Brizape/tmvar_split_0404 · Datasets at Hugging Face

id stringlengths 8 8	tokens list	ner_tags list	texts stringlengths 0 2.64k
20806042	[ "PURPOSE:", "To", "identify", "the", "underlying", "genetic", "defect", "in", "a", "four-generation", "family", "of", "Chinese", "origin", "with", "autosomal", "dominant", "congenital", "cataract-microcornea", "syndrome", "(CCMC).", "METHODS:", "All", "individuals", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from per...
20806042	[]	[]
21159032	[ "Alpha2B-adrenergic", "receptor", "insertion/deletion", "polymorphism", "in", "women", "with", "spontaneous", "recurrent", "abortions." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Alpha2B-adrenergic receptor insertion/deletion polymorphism in women with spontaneous recurrent abortions.
21159032	[ "AIM:", "The", "aim", "of", "our", "study", "was", "to", "investigate", "the", "relationship", "between", "the", "alpha2B-adrenoreceptor", "insertion/deletion", "(I/D)", "polymorphism", "and", "recurrent", "spontaneous", "abortions", "(RSA).", "METHODS:", "Genotyping", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	AIM: The aim of our study was to investigate the relationship between the alpha2B-adrenoreceptor insertion/deletion (I/D) polymorphism and recurrent spontaneous abortions (RSA). METHODS: Genotyping was performed in 48 women with a history of at least three consecutive spontaneous abortions and 96 women with at least tw...
21159032	[]	[]
20949073	[ "Alternative", "splicing", "at", "a", "NAGNAG", "acceptor", "site", "as", "a", "novel", "phenotype", "modifier." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
20949073	[ "Approximately", "30%", "of", "alleles", "causing", "genetic", "disorders", "generate", "premature", "termination", "codons", "(PTCs),", "which", "are", "usually", "associated", "with", "severe", "phenotypes.", "However,", "bypassing", "the", "deleterious", "stop", "c...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to result in insertion or d...
20949073	[]	[]
20651814	[ "Lack", "of", "association", "between", "ADRA2B-4825", "gene", "insertion/deletion", "polymorphism", "and", "migraine", "in", "Chinese", "Han", "population." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Lack of association between ADRA2B-4825 gene insertion/deletion polymorphism and migraine in Chinese Han population.
20651814	[ "OBJECTIVE:", "The", "present", "study", "aimed", "to", "estimate", "the", "association", "between", "susceptibility", "to", "migraine", "and", "the", "12-nucleotide", "insertion/deletion", "(indel)", "polymorphism", "in", "promoter", "region", "of", "alpha(2B)-adrenerg...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	OBJECTIVE: The present study aimed to estimate the association between susceptibility to migraine and the 12-nucleotide insertion/deletion (indel) polymorphism in promoter region of alpha(2B)-adrenergic receptor gene (ADRA2B). METHODS: A case-control study was carried out in Chinese Han population, including 368 cases ...
20651814	[]	[]
20534762	[ "Two", "novel", "mutations", "of", "the", "TSH-beta", "subunit", "gene", "underlying", "congenital", "central", "hypothyroidism", "undetectable", "in", "neonatal", "TSH", "screening." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
20534762	[ "CONTEXT:", "Patients", "with", "TSH-beta", "subunit", "defects", "and", "congenital", "hypothyroidism", "are", "missed", "by", "TSH-based", "neonatal", "screening.", "OBJECTIVE:", "Our", "objective", "was", "to", "report", "the", "molecular", "consequences", "of", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	CONTEXT: Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening. OBJECTIVE: Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital...
20534762	[]	[]
20529581	[ "A", "novel", "point", "mutation", "in", "CD18", "causing", "leukocyte", "adhesion", "deficiency", "in", "a", "Chinese", "patient." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.
20529581	[ "BACKGROUND:", "Leukocyte", "adhesion", "deficiency", "type", "1", "(LAD-1)", "is", "a", "rare,", "autosomal", "recessive", "inherited", "immunodeficiency", "disease", "characterized", "by", "recurrent", "severe", "bacterial", "infection,", "impaired", "pus", "formation...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to mig...
20529581	[]	[]
20523265	[ "Association", "study", "of", "complement", "factor", "H,", "C2,", "CFB,", "and", "C3", "and", "age-related", "macular", "degeneration", "in", "a", "Han", "Chinese", "population." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.
20523265	[ "PURPOSE:", "Genes", "in", "the", "complement", "pathway,", "including", "complement", "factor", "H", "(CFH),", "C2/BF,", "and", "C3,", "have", "been", "reported", "to", "be", "associated", "with", "age-related", "macular", "degeneration", "(AMD).", "Genetic", "va...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: Genes in the complement pathway, including complement factor H (CFH), C2/BF, and C3, have been reported to be associated with age-related macular degeneration (AMD). Genetic variants, single-nucleotide polymorphisms (SNPs), in these genes were geno-typed for a case-control association study in a mainland Han C...
20523265	[]	[]
20352162	[ "4G/5G", "polymorphism", "and", "haplotypes", "of", "SERPINE1", "in", "atherosclerotic", "diseases", "of", "coronary", "arteries." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	4G/5G polymorphism and haplotypes of SERPINE1 in atherosclerotic diseases of coronary arteries.
20352162	[ "We", "assessed", "the", "association", "between", "common", "variation", "at", "the", "SERPINE1", "(PAI1)", "locus", "and", "myocardial", "infarction", "(MI).", "Haplotype-tagging", "polymorphisms,", "including", "the", "4G/5G", "deletion/insertion", "polymorphism", "a...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We assessed the association between common variation at the SERPINE1 (PAI1) locus and myocardial infarction (MI). Haplotype-tagging polymorphisms, including the 4G/5G deletion/insertion polymorphism and seven single nucleotide polymorphisms, were analysed in a German sample containing 3,657 cases with MI and 1,211 cont...
20352162	[]	[]
20202300	[ "Recent", "nosocomial", "transmission", "and", "genotypes", "of", "multidrug-resistant", "Mycobacterium", "tuberculosis." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Recent nosocomial transmission and genotypes of multidrug-resistant Mycobacterium tuberculosis.
20202300	[ "SETTING:", "Multidrug-resistant", "tuberculosis", "(MDR-TB)", "is", "a", "serious", "health", "problem", "in", "Eastern", "European", "countries,", "including", "Latvia.", "OBJECTIVE:", "To", "investigate", "the", "proportion", "of", "tuberculosis,", "including", "MDR-...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	SETTING: Multidrug-resistant tuberculosis (MDR-TB) is a serious health problem in Eastern European countries, including Latvia. OBJECTIVE: To investigate the proportion of tuberculosis, including MDR-TB cases, attributable to recent transmission and risk factors associated with clustering. DESIGN: Retrospective nested ...
20202300	[]	[]
20126413	[ "U87MG", "decoded:", "the", "genomic", "sequence", "of", "a", "cytogenetically", "aberrant", "human", "cancer", "cell", "line." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.
20126413	[ "U87MG", "is", "a", "commonly", "studied", "grade", "IV", "glioma", "cell", "line", "that", "has", "been", "analyzed", "in", "at", "least", "1,700", "publications", "over", "four", "decades.", "In", "order", "to", "comprehensively", "characterize", "the", "gen...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	U87MG is a commonly studied grade IV glioma cell line that has been analyzed in at least 1,700 publications over four decades. In order to comprehensively characterize the genome of this cell line and to serve as a model of broad cancer genome sequencing, we have generated greater than 30x genomic sequence coverage usi...
20126413	[]	[]
20113448	[ "Development", "and", "validation", "of", "a", "SYBR", "Green", "I-based", "real-time", "polymerase", "chain", "reaction", "method", "for", "detection", "of", "haptoglobin", "gene", "deletion", "in", "clinical", "materials." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Development and validation of a SYBR Green I-based real-time polymerase chain reaction method for detection of haptoglobin gene deletion in clinical materials.
20113448	[ "BACKGROUND:", "Anhaptoglobinemic", "patients", "run", "the", "risk", "of", "severe", "anaphylactic", "transfusion", "reaction", "because", "they", "produce", "serum", "haptoglobin", "(Hp)", "antibodies.", "Being", "homozygous", "for", "the", "Hp", "gene", "deletion",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Anhaptoglobinemic patients run the risk of severe anaphylactic transfusion reaction because they produce serum haptoglobin (Hp) antibodies. Being homozygous for the Hp gene deletion (HP(del)) is the only known cause of congenital anhaptoglobinemia, and clinical diagnosis of HP(del) before transfusion is imp...
20113448	[]	[]
20017074	[ "Investigation", "of", "SERPINE1", "genetic", "polymorphism", "in", "Macedonian", "patients", "with", "occlusive", "artery", "disease", "and", "deep", "vein", "thrombosis." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Investigation of SERPINE1 genetic polymorphism in Macedonian patients with occlusive artery disease and deep vein thrombosis.
20017074	[ "BACKGROUND:", "Raised", "SERPINE1", "plasma", "levels", "are", "related", "to", "a", "1-bp", "guanine", "deletion/insertion", "(4G5G)", "polymorphism", "in", "the", "promoter", "of", "the", "SERPINE1", "(plasminogen", "activator", "inhibitor", "1", "-", "PAI1)", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Raised SERPINE1 plasma levels are related to a 1-bp guanine deletion/insertion (4G5G) polymorphism in the promoter of the SERPINE1 (plasminogen activator inhibitor 1 - PAI1) gene. Evidence suggested that the plasma levels of SERPINE1 modulate the risk of coronary artery disease; furthermore, that the 4G5G p...
20017074	[]	[]
20005218	[ "A", "potential", "regulatory", "single", "nucleotide", "polymorphism", "in", "the", "promoter", "of", "the", "Klotho", "gene", "may", "be", "associated", "with", "essential", "hypertension", "in", "the", "Chinese", "Han", "population." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population.
20005218	[ "BACKGROUND:", "Mice", "with", "defects", "in", "the", "Klotho", "gene", "exhibit", "multiple", "aging", "phenotypes", "including", "arteriosclerosis.", "We", "hypothesised", "that", "the", "G-395A", " ", "polymorphism", "in", "the", "promoter", "region", "of", "t...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Mice with defects in the Klotho gene exhibit multiple aging phenotypes including arteriosclerosis. We hypothesised that the G-395A polymorphism in the promoter region of the human Klotho gene may contribute to the prevalence of Essential Hypertension (EH). METHODS: We investigate whether the G-395A poly...
20005218	[]	[]
19897031	[ "An", "intronic", "polymorphism", "of", "IRF4", "gene", "influences", "gene", "transcription", "in", "vitro", "and", "shows", "a", "risk", "association", "with", "childhood", "acute", "lymphoblastic", "leukemia", "in", "males." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males.
19897031	[ "The", "interferon", "regulatory", "factor", "(IRF)", "family", "of", "DNA-binding", "proteins", "regulates", "expression", "of", "interferon-inducible", "genes", "with", "roles", "in", "the", "immune", "response", "and", "carcinogenesis.", "IRF4", "is", "involved", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	The interferon regulatory factor (IRF) family of DNA-binding proteins regulates expression of interferon-inducible genes with roles in the immune response and carcinogenesis. IRF4 is involved in the differentiation of B and T cells and is overexpressed in B-cell malignancies as a result of c-REL (NF-kappaB) hyperactiva...
19897031	[]	[]
19766614	[ "A", "novel", "insertion", "mutation", "in", "the", "SEDL", "gene", "results", "in", "X-linked", "spondyloepiphyseal", "dysplasia", "tarda", "in", "a", "large", "Chinese", "pedigree." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
19766614	[ "BACKGROUND:", "Spondyloepiphyseal", "dysplasia", "tarda", "(SEDT)", "is", "an", "X-chromosome", "linked", "primary", "skeletal", "dysplasia", "characterized", "by", "a", "disproportionate", "short-trunked", "short", "stature,", "dysplasia", "of", "the", "large", "joint...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature, dysplasia of the large joints and flattened thoracic and lumber vertebral bodies. The objective of this study is to describe a large Chinese SEDT fa...
19766614	[]	[]
19730022	[ "Congestive", "heart", "failure", "with", "rhabdomyolysis", "and", "acute", "renal", "failure", "in", "a", "manifesting", "female", "carrier", "of", "Duchenne", "muscular", "dystrophy", "with", "duplication", "of", "dystrophin", "gene." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene.
19730022	[ "We", "report", "a", "69-year-old", "woman", "who", "presented", "with", "dyspnea,", "orthopnea,", "and", "acute", "renal", "failure.", "She", "also", "had", "proximal", "muscle", "weakness", "suggestive", "of", "muscle", "disease.", "Her", "symptoms", "were", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We report a 69-year-old woman who presented with dyspnea, orthopnea, and acute renal failure. She also had proximal muscle weakness suggestive of muscle disease. Her symptoms were alleviated by induced dieresis, although there was high-serum creatine kinase. Investigations for any possible etiologies of rhabdomyolysis ...
19730022	[]	[]
19681861	[ "Forty-two", "novel", "COL7A1", "mutations", "and", "the", "role", "of", "a", "frequent", "single", "nucleotide", "polymorphism", "in", "the", "MMP1", "promoter", "in", "modulation", "of", "disease", "severity", "in", "a", "large", "European", "dystrophic", "epi...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
19681861	[ "BACKGROUND:", "Dystrophic", "epidermolysis", "bullosa", "(DEB)", "is", "a", "severe", "genetic", "skin", "blistering", "disorder", "caused", "by", "mutations", "in", "the", "gene", "COL7A1,", "encoding", "collagen", "VII.", "Recently,", "the", "MMP1", "promoter", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1, encoding collagen VII. Recently, the MMP1 promoter single nucleotide polymorphism (SNP) rs1799750 , designated as 1G 2G, was shown to be involved in modulation of disease severity in p...
19681861	[]	[]
19559455	[ "A", "combination", "of", "defective", "DNA", "and", "protective", "host", "factors", "are", "found", "in", "a", "set", "of", "HIV-1", "ancestral", "LTNPs." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A combination of defective DNA and protective host factors are found in a set of HIV-1 ancestral LTNPs.
19559455	[ "We", "studied", "viral", "evolution", "in", "three", "HIV-1", "ancestral", "patients", "from", "a", "group", "of", "LTNPs;", "although", "some", "minor", "sequences", "showing", "viral", "evolution", "were", "detected", "in", "all", "patients,", "the", "extreme...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We studied viral evolution in three HIV-1 ancestral patients from a group of LTNPs; although some minor sequences showing viral evolution were detected in all patients, the extremely low viral evolution of their viruses was shown by the phylogenetic analysis of the env sequences. Complete nucleotide sequencing of viral...
19559455	[]	[]
19542096	[ "Mutation", "of", "SYNE-1,", "encoding", "an", "essential", "component", "of", "the", "nuclear", "lamina,", "is", "responsible", "for", "autosomal", "recessive", "arthrogryposis." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.
19542096	[ "Arthrogryposis", "multiplex", "congenita", "(AMC)", "is", "a", "group", "of", "disorders", "characterized", "by", "congenital", "joint", "contractures", "caused", "by", "reduced", "fetal", "movements.", "AMC", "has", "an", "incidence", "of", "1", "in", "3000", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital joint contractures caused by reduced fetal movements. AMC has an incidence of 1 in 3000 newborns and is genetically heterogeneous. We describe an autosomal recessive form of myogenic AMC in a large consanguineous family. The di...
19542096	[]	[]
19477219	[ "Identified", "hidden", "genomic", "changes", "in", "mantle", "cell", "lymphoma", "using", "high-resolution", "single", "nucleotide", "polymorphism", "genomic", "array." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Identified hidden genomic changes in mantle cell lymphoma using high-resolution single nucleotide polymorphism genomic array.
19477219	[ "OBJECTIVE:", "Mantle", "cell", "lymphoma", "(MCL)", "is", "a", "lymphoma", "characterized", "by", "aberrant", "activation", "of", "CCND1/cyclin", "D1", "followed", "by", "sequential", "genetic", "abnormalities.", "Genomic", "abnormalities", "in", "MCL", "have", "be...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	OBJECTIVE: Mantle cell lymphoma (MCL) is a lymphoma characterized by aberrant activation of CCND1/cyclin D1 followed by sequential genetic abnormalities. Genomic abnormalities in MCL have been extensively examined by classical cytogenetics and microarray-based comparative genomic hybridization techniques, pointing out ...
19477219	[]	[]
19444361	[ "COL3A1", "2209G>A", " ", "is", "a", "predictor", "of", "pelvic", "organ", "prolapse." ]	[ 0, 1, 0, 0, 0, 0, 0, 0, 0, 0 ]	COL3A1 2209G>A is a predictor of pelvic organ prolapse.
19444361	[ "INTRODUCTION", "AND", "HYPOTHESIS:", "A", "familial", "tendency", "has", "been", "demonstrated", "in", "the", "etiology", "of", "pelvic", "organ", "prolapse", "(POP),", "but", "the", "specific", "genetic", "defects", "have", "not", "been", "identified.", "Type", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	INTRODUCTION AND HYPOTHESIS: A familial tendency has been demonstrated in the etiology of pelvic organ prolapse (POP), but the specific genetic defects have not been identified. Type III collagen is an important factor in the repair of connective tissue, and gene polymorphisms may impair the tensile strength. We hypoth...
19444361	[]	[]
19429807	[ "A", "novel", "ATP7A", "gross", "deletion", "mutation", "in", "a", "Korean", "patient", "with", "Menkes", "disease." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.
19429807	[ "Menkes", "disease", "(MD,", "MIM", "309400)", "is", "a", "fatal", "X-linked", "recessive", "disorder", "that", "is", "caused", "by", "mutations", "in", "the", "gene", "encoding", "ATP7A,", "a", "copper-transporting,", "P-type", "ATPase.", "Patients", "with", "M...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Menkes disease (MD, MIM 309400) is a fatal X-linked recessive disorder that is caused by mutations in the gene encoding ATP7A, a copper-transporting, P-type ATPase. Patients with MD are characterized by progressive hypotonia, seizures, failure to thrive, and death in early childhood. Two Korean patients were diagnosed ...
19429807	[]	[]
19394258	[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
19394258	[ "Deoxyguanosine", "kinase", "(dGK)", "deficiency", "is", "a", "frequent", "cause", "of", "mitochondrial", "DNA", "depletion", "associated", "with", "a", "hepatocerebral", "phenotype.", "In", "this", "study,", "we", "describe", "a", "new", "splice", "site", "mutati...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clinical, radiologic, and genetic features of these DGUOK patients. This new DGUOK homozygous mutation ( c...
19394258	[]	[]
19365571	[ "Macular", "corneal", "dystrophy", "in", "a", "Chinese", "family", "related", "with", "novel", "mutations", "of", "CHST6." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.
19365571	[ "PURPOSE:", "To", "identify", "mutations", "in", "the", "carbohydrate", "sulfotransferase", "gene", "(CHST6)", "for", "a", "Chinese", "family", "with", "macular", "corneal", "dystrophy", "(MCD)", "and", "to", "investigate", "the", "histopathological", "changes", "in...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. METHODS: A corneal button of the proband was obtained by penetrating keratoplasty. The half button and ultra...
19365571	[]	[]
19298002	[ "Genetic", "polymorphism", "in", "chemokine", "CCL22", "and", "susceptibility", "to", "Helicobacter", "pylori", "infection-related", "gastric", "carcinoma." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Genetic polymorphism in chemokine CCL22 and susceptibility to Helicobacter pylori infection-related gastric carcinoma.
19298002	[ "BACKGROUND:", "Gastric", "carcinoma", "is", "widely", "considered", "to", "be", "related", "to", "Helicobacter", "pylori", "infection,", "and", "the", "chemokine", "(C-C", "motif)", "ligand", "22", "(CCL22)", "plays", "an", "important", "role", "in", "suppressing...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Gastric carcinoma is widely considered to be related to Helicobacter pylori infection, and the chemokine (C-C motif) ligand 22 (CCL22) plays an important role in suppressing immune responses against H. pylori and tumor cells. In this study, the authors examined the association between single nucleotide poly...
19298002	[]	[]
19132389	[ "Impact", "of", "pepsinogen", "C", "polymorphism", "on", "individual", "susceptibility", "to", "gastric", "cancer", "and", "its", "precancerous", "conditions", "in", "a", "Northeast", "Chinese", "population." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Impact of pepsinogen C polymorphism on individual susceptibility to gastric cancer and its precancerous conditions in a Northeast Chinese population.
19132389	[ "PURPOSE:", "Human", "pepsinogen", "C", "(PGC)", "is", "an", "aspartic", "protease", "produced", "specifically", "by", "the", "gastric", "mucosa,", "and", "is", "considered", "as", "a", "mature", "marker", "of", "gastric", "epithelium.", "This", "study", "examin...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: Human pepsinogen C (PGC) is an aspartic protease produced specifically by the gastric mucosa, and is considered as a mature marker of gastric epithelium. This study examined the contributions of PGC polymorphisms and the Helicobacter pylori (H. pylori) infection to the risk of gastric cancer (GC), and its prec...
19132389	[]	[]
19129715	[ "Three", "novel", "IGFALS", "gene", "mutations", "resulting", "in", "total", "ALS", "and", "severe", "circulating", "IGF-I/IGFBP-3", "deficiency", "in", "children", "of", "different", "ethnic", "origins." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
19129715	[ "BACKGROUND/AIMS:", "To", "date,", "four", "mutations", "in", "the", "IGFALS", "gene", "have", "been", "reported.", "We", "now", "describe", "two", "children", "of", "different", "ethnic", "background", "with", "total", "acid-labile", "subunit", "(ALS)", "and", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND/AIMS: To date, four mutations in the IGFALS gene have been reported. We now describe two children of different ethnic background with total acid-labile subunit (ALS) and severe circulating IGF-I/IGFBP-3 deficiencies resulting from three novel mutations in the IGFALS gene. PATIENTS/METHODS: Serum and DNA of p...
19129715	[]	[]
19110214	[ "A", "recessive", "skeletal", "dysplasia,", "SEMD", "aggrecan", "type,", "results", "from", "a", "missense", "mutation", "affecting", "the", "C-type", "lectin", "domain", "of", "aggrecan." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
19110214	[ "Analysis", "of", "a", "nuclear", "family", "with", "three", "affected", "offspring", "identified", "an", "autosomal-recessive", "form", "of", "spondyloepimetaphyseal", "dysplasia", "characterized", "by", "severe", "short", "stature", "and", "a", "unique", "constellat...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of the affected individu...
19110214	[]	[]
19101703	[ "Study", "of", "a", "Taiwanese", "family", "with", "oculopharyngeal", "muscular", "dystrophy." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Study of a Taiwanese family with oculopharyngeal muscular dystrophy.
19101703	[ "BACKGROUND:", "Oculopharyngeal", "muscular", "dystrophy", "(OPMD)", "is", "a", "late", "onset", "autosomal", "dominant", "muscle", "disorder.", "OPMD", "is", "caused", "by", "a", "short", "trinucleotide", "repeat", "expansion", "encoding", "an", "expanded", "polyal...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. OPMD is caused by a short trinucleotide repeat expansion encoding an expanded polyalanine tract in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. We identified and characterized a PABPN1 mutation in a T...
19101703	[]	[]
19082493	[ "Combination", "of", "polymorphisms", "within", "5'", "and", "3'", "untranslated", "regions", "of", "thymidylate", "synthase", "gene", "modulates", "survival", "in", "5", "fluorouracil-treated", "colorectal", "cancer", "patients." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Combination of polymorphisms within 5' and 3' untranslated regions of thymidylate synthase gene modulates survival in 5 fluorouracil-treated colorectal cancer patients.
19082493	[ "In", "the", "present", "study", "we", "explored", "the", "effect", "of", "three", "polymorphisms", "of", "the", "TS", "gene", "on", "overall", "and", "progression-", "free", "survival", "of", "colorectal", "cancer", "(CRC)", "patients", "subjected", "to", "5F...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	In the present study we explored the effect of three polymorphisms of the TS gene on overall and progression- free survival of colorectal cancer (CRC) patients subjected to 5FU chemotherapy. A 28 bp variable number of tandem repeats (VNTR), a G/C single nucleotide polymorphism (SNP), and a deletion of 6 bp at positio...
19082493	[]	[]
19047089	[ "Genome-wide", "loss", "of", "heterozygosity", "and", "uniparental", "disomy", "in", "BRCA1/2-associated", "ovarian", "carcinomas." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Genome-wide loss of heterozygosity and uniparental disomy in BRCA1/2-associated ovarian carcinomas.
19047089	[ "PURPOSE:", "The", "importance", "of", "the", "BRCA", "gene", "products", "in", "maintaining", "genomic", "stability", "led", "us", "to", "hypothesize", "that", "BRCA-associated", "and", "sporadic", "ovarian", "cancers", "would", "have", "distinctive", "genetic", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: The importance of the BRCA gene products in maintaining genomic stability led us to hypothesize that BRCA-associated and sporadic ovarian cancers would have distinctive genetic profiles despite similarities in histologic appearance. EXPERIMENTAL DESIGN: A whole-genome copy number analysis of fresh, frozen, pap...
19047089	[]	[]
19037252	[ "Mutations", "in", "phospholipase", "C", "epsilon", "1", "are", "not", "sufficient", "to", "cause", "diffuse", "mesangial", "sclerosis." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
19037252	[ "Diffuse", "mesangial", "sclerosis", "occurs", "as", "an", "isolated", "abnormality", "or", "as", "a", "part", "of", "a", "syndrome.", "Recently,", "mutations", "in", "phospholipase", "C", "epsilon", "1", "(PLCE1)", "were", "found", "to", "cause", "a", "nonsyn...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three children from one consanguineous kindred of Pakistani origin with diffus...
19037252	[]	[]
19012332	[ "Somatic", "TP53", "mutation", "mosaicism", "in", "a", "patient", "with", "Li-Fraumeni", "syndrome." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome.
19012332	[ "We", "present", "a", "girl", "who", "developed", "adrenocortical", "adenoma", "at", "the", "age", "of", "1", "year", "and", "osteosarcoma", "at", "the", "age", "of", "5", "years.", "There", "was", "no", "history", "of", "cancer", "in", "her", "parents", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0...	We present a girl who developed adrenocortical adenoma at the age of 1 year and osteosarcoma at the age of 5 years. There was no history of cancer in her parents and their relatives. However, both tumors were typical for the Li-Fraumeni syndrome (LFS), and the patient met criteria for germline TP53 mutation testing. A ...
19012332	[]	[]
18838613	[ "A", "comprehensive", "analysis", "of", "the", "CDKN2A", "gene", "in", "childhood", "acute", "lymphoblastic", "leukemia", "reveals", "genomic", "deletion,", "copy", "number", "neutral", "loss", "of", "heterozygosity,", "and", "association", "with", "specific", "cyto...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups.
18838613	[ "Inactivation", "of", "the", "tumor", "suppressor", "gene,", "CDKN2A,", "can", "occur", "by", "deletion,", "methylation,", "or", "mutation.", "We", "assessed", "the", "principal", "mode", "of", "inactivation", "in", "childhood", "acute", "lymphoblastic", "leukemia",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Inactivation of the tumor suppressor gene, CDKN2A, can occur by deletion, methylation, or mutation. We assessed the principal mode of inactivation in childhood acute lymphoblastic leukemia (ALL) and frequency in biologically relevant subgroups. Mutation or methylation was rare, whereas genomic deletion occurred in 21% ...

20806042

[ "PURPOSE:", "To", "identify", "the", "underlying", "genetic", "defect", "in", "a", "four-generation", "family", "of", "Chinese", "origin", "with", "autosomal", "dominant", "congenital", "cataract-microcornea", "syndrome", "(CCMC).", "METHODS:", "All", "individuals", "...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from per...

20806042

[]

21159032

[ "Alpha2B-adrenergic", "receptor", "insertion/deletion", "polymorphism", "in", "women", "with", "spontaneous", "recurrent", "abortions." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Alpha2B-adrenergic receptor insertion/deletion polymorphism in women with spontaneous recurrent abortions.

21159032

[ "AIM:", "The", "aim", "of", "our", "study", "was", "to", "investigate", "the", "relationship", "between", "the", "alpha2B-adrenoreceptor", "insertion/deletion", "(I/D)", "polymorphism", "and", "recurrent", "spontaneous", "abortions", "(RSA).", "METHODS:", "Genotyping", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

AIM: The aim of our study was to investigate the relationship between the alpha2B-adrenoreceptor insertion/deletion (I/D) polymorphism and recurrent spontaneous abortions (RSA). METHODS: Genotyping was performed in 48 women with a history of at least three consecutive spontaneous abortions and 96 women with at least tw...

21159032

[]

20949073

[ "Alternative", "splicing", "at", "a", "NAGNAG", "acceptor", "site", "as", "a", "novel", "phenotype", "modifier." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

20949073

[ "Approximately", "30%", "of", "alleles", "causing", "genetic", "disorders", "generate", "premature", "termination", "codons", "(PTCs),", "which", "are", "usually", "associated", "with", "severe", "phenotypes.", "However,", "bypassing", "the", "deleterious", "stop", "c...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to result in insertion or d...

20949073

[]

20651814

[ "Lack", "of", "association", "between", "ADRA2B-4825", "gene", "insertion/deletion", "polymorphism", "and", "migraine", "in", "Chinese", "Han", "population." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Lack of association between ADRA2B-4825 gene insertion/deletion polymorphism and migraine in Chinese Han population.

20651814

[ "OBJECTIVE:", "The", "present", "study", "aimed", "to", "estimate", "the", "association", "between", "susceptibility", "to", "migraine", "and", "the", "12-nucleotide", "insertion/deletion", "(indel)", "polymorphism", "in", "promoter", "region", "of", "alpha(2B)-adrenerg...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

OBJECTIVE: The present study aimed to estimate the association between susceptibility to migraine and the 12-nucleotide insertion/deletion (indel) polymorphism in promoter region of alpha(2B)-adrenergic receptor gene (ADRA2B). METHODS: A case-control study was carried out in Chinese Han population, including 368 cases ...

20651814

[]

20534762

[ "Two", "novel", "mutations", "of", "the", "TSH-beta", "subunit", "gene", "underlying", "congenital", "central", "hypothyroidism", "undetectable", "in", "neonatal", "TSH", "screening." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.

20534762

[ "CONTEXT:", "Patients", "with", "TSH-beta", "subunit", "defects", "and", "congenital", "hypothyroidism", "are", "missed", "by", "TSH-based", "neonatal", "screening.", "OBJECTIVE:", "Our", "objective", "was", "to", "report", "the", "molecular", "consequences", "of", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

CONTEXT: Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening. OBJECTIVE: Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital...

20534762

[]

20529581

[ "A", "novel", "point", "mutation", "in", "CD18", "causing", "leukocyte", "adhesion", "deficiency", "in", "a", "Chinese", "patient." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

20529581

[ "BACKGROUND:", "Leukocyte", "adhesion", "deficiency", "type", "1", "(LAD-1)", "is", "a", "rare,", "autosomal", "recessive", "inherited", "immunodeficiency", "disease", "characterized", "by", "recurrent", "severe", "bacterial", "infection,", "impaired", "pus", "formation...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to mig...

20529581

[]

20523265

[ "Association", "study", "of", "complement", "factor", "H,", "C2,", "CFB,", "and", "C3", "and", "age-related", "macular", "degeneration", "in", "a", "Han", "Chinese", "population." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.

20523265

[ "PURPOSE:", "Genes", "in", "the", "complement", "pathway,", "including", "complement", "factor", "H", "(CFH),", "C2/BF,", "and", "C3,", "have", "been", "reported", "to", "be", "associated", "with", "age-related", "macular", "degeneration", "(AMD).", "Genetic", "va...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: Genes in the complement pathway, including complement factor H (CFH), C2/BF, and C3, have been reported to be associated with age-related macular degeneration (AMD). Genetic variants, single-nucleotide polymorphisms (SNPs), in these genes were geno-typed for a case-control association study in a mainland Han C...

20523265

[]

20352162

[ "4G/5G", "polymorphism", "and", "haplotypes", "of", "SERPINE1", "in", "atherosclerotic", "diseases", "of", "coronary", "arteries." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

4G/5G polymorphism and haplotypes of SERPINE1 in atherosclerotic diseases of coronary arteries.

20352162

[ "We", "assessed", "the", "association", "between", "common", "variation", "at", "the", "SERPINE1", "(PAI1)", "locus", "and", "myocardial", "infarction", "(MI).", "Haplotype-tagging", "polymorphisms,", "including", "the", "4G/5G", "deletion/insertion", "polymorphism", "a...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We assessed the association between common variation at the SERPINE1 (PAI1) locus and myocardial infarction (MI). Haplotype-tagging polymorphisms, including the 4G/5G deletion/insertion polymorphism and seven single nucleotide polymorphisms, were analysed in a German sample containing 3,657 cases with MI and 1,211 cont...

20352162

[]

20202300

[ "Recent", "nosocomial", "transmission", "and", "genotypes", "of", "multidrug-resistant", "Mycobacterium", "tuberculosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Recent nosocomial transmission and genotypes of multidrug-resistant Mycobacterium tuberculosis.

20202300

[ "SETTING:", "Multidrug-resistant", "tuberculosis", "(MDR-TB)", "is", "a", "serious", "health", "problem", "in", "Eastern", "European", "countries,", "including", "Latvia.", "OBJECTIVE:", "To", "investigate", "the", "proportion", "of", "tuberculosis,", "including", "MDR-...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

SETTING: Multidrug-resistant tuberculosis (MDR-TB) is a serious health problem in Eastern European countries, including Latvia. OBJECTIVE: To investigate the proportion of tuberculosis, including MDR-TB cases, attributable to recent transmission and risk factors associated with clustering. DESIGN: Retrospective nested ...

20202300

[]

20126413

[ "U87MG", "decoded:", "the", "genomic", "sequence", "of", "a", "cytogenetically", "aberrant", "human", "cancer", "cell", "line." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

20126413

[ "U87MG", "is", "a", "commonly", "studied", "grade", "IV", "glioma", "cell", "line", "that", "has", "been", "analyzed", "in", "at", "least", "1,700", "publications", "over", "four", "decades.", "In", "order", "to", "comprehensively", "characterize", "the", "gen...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

U87MG is a commonly studied grade IV glioma cell line that has been analyzed in at least 1,700 publications over four decades. In order to comprehensively characterize the genome of this cell line and to serve as a model of broad cancer genome sequencing, we have generated greater than 30x genomic sequence coverage usi...

20126413

[]

20113448

[ "Development", "and", "validation", "of", "a", "SYBR", "Green", "I-based", "real-time", "polymerase", "chain", "reaction", "method", "for", "detection", "of", "haptoglobin", "gene", "deletion", "in", "clinical", "materials." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Development and validation of a SYBR Green I-based real-time polymerase chain reaction method for detection of haptoglobin gene deletion in clinical materials.

20113448

[ "BACKGROUND:", "Anhaptoglobinemic", "patients", "run", "the", "risk", "of", "severe", "anaphylactic", "transfusion", "reaction", "because", "they", "produce", "serum", "haptoglobin", "(Hp)", "antibodies.", "Being", "homozygous", "for", "the", "Hp", "gene", "deletion",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Anhaptoglobinemic patients run the risk of severe anaphylactic transfusion reaction because they produce serum haptoglobin (Hp) antibodies. Being homozygous for the Hp gene deletion (HP(del)) is the only known cause of congenital anhaptoglobinemia, and clinical diagnosis of HP(del) before transfusion is imp...

20113448

[]

20017074

[ "Investigation", "of", "SERPINE1", "genetic", "polymorphism", "in", "Macedonian", "patients", "with", "occlusive", "artery", "disease", "and", "deep", "vein", "thrombosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Investigation of SERPINE1 genetic polymorphism in Macedonian patients with occlusive artery disease and deep vein thrombosis.

20017074

[ "BACKGROUND:", "Raised", "SERPINE1", "plasma", "levels", "are", "related", "to", "a", "1-bp", "guanine", "deletion/insertion", "(4G5G)", "polymorphism", "in", "the", "promoter", "of", "the", "SERPINE1", "(plasminogen", "activator", "inhibitor", "1", "-", "PAI1)", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Raised SERPINE1 plasma levels are related to a 1-bp guanine deletion/insertion (4G5G) polymorphism in the promoter of the SERPINE1 (plasminogen activator inhibitor 1 - PAI1) gene. Evidence suggested that the plasma levels of SERPINE1 modulate the risk of coronary artery disease; furthermore, that the 4G5G p...

20017074

[]

20005218

[ "A", "potential", "regulatory", "single", "nucleotide", "polymorphism", "in", "the", "promoter", "of", "the", "Klotho", "gene", "may", "be", "associated", "with", "essential", "hypertension", "in", "the", "Chinese", "Han", "population." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population.

20005218

[ "BACKGROUND:", "Mice", "with", "defects", "in", "the", "Klotho", "gene", "exhibit", "multiple", "aging", "phenotypes", "including", "arteriosclerosis.", "We", "hypothesised", "that", "the", "G-395A", " ", "polymorphism", "in", "the", "promoter", "region", "of", "t...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Mice with defects in the Klotho gene exhibit multiple aging phenotypes including arteriosclerosis. We hypothesised that the G-395A polymorphism in the promoter region of the human Klotho gene may contribute to the prevalence of Essential Hypertension (EH). METHODS: We investigate whether the G-395A poly...

20005218

[]

19897031

[ "An", "intronic", "polymorphism", "of", "IRF4", "gene", "influences", "gene", "transcription", "in", "vitro", "and", "shows", "a", "risk", "association", "with", "childhood", "acute", "lymphoblastic", "leukemia", "in", "males." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

An intronic polymorphism of IRF4 gene influences gene transcription in vitro and shows a risk association with childhood acute lymphoblastic leukemia in males.

19897031

[ "The", "interferon", "regulatory", "factor", "(IRF)", "family", "of", "DNA-binding", "proteins", "regulates", "expression", "of", "interferon-inducible", "genes", "with", "roles", "in", "the", "immune", "response", "and", "carcinogenesis.", "IRF4", "is", "involved", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

The interferon regulatory factor (IRF) family of DNA-binding proteins regulates expression of interferon-inducible genes with roles in the immune response and carcinogenesis. IRF4 is involved in the differentiation of B and T cells and is overexpressed in B-cell malignancies as a result of c-REL (NF-kappaB) hyperactiva...

19897031

[]

19766614

[ "A", "novel", "insertion", "mutation", "in", "the", "SEDL", "gene", "results", "in", "X-linked", "spondyloepiphyseal", "dysplasia", "tarda", "in", "a", "large", "Chinese", "pedigree." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.

19766614

[ "BACKGROUND:", "Spondyloepiphyseal", "dysplasia", "tarda", "(SEDT)", "is", "an", "X-chromosome", "linked", "primary", "skeletal", "dysplasia", "characterized", "by", "a", "disproportionate", "short-trunked", "short", "stature,", "dysplasia", "of", "the", "large", "joint...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature, dysplasia of the large joints and flattened thoracic and lumber vertebral bodies. The objective of this study is to describe a large Chinese SEDT fa...

19766614

[]

19730022

[ "Congestive", "heart", "failure", "with", "rhabdomyolysis", "and", "acute", "renal", "failure", "in", "a", "manifesting", "female", "carrier", "of", "Duchenne", "muscular", "dystrophy", "with", "duplication", "of", "dystrophin", "gene." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene.

19730022

[ "We", "report", "a", "69-year-old", "woman", "who", "presented", "with", "dyspnea,", "orthopnea,", "and", "acute", "renal", "failure.", "She", "also", "had", "proximal", "muscle", "weakness", "suggestive", "of", "muscle", "disease.", "Her", "symptoms", "were", "...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We report a 69-year-old woman who presented with dyspnea, orthopnea, and acute renal failure. She also had proximal muscle weakness suggestive of muscle disease. Her symptoms were alleviated by induced dieresis, although there was high-serum creatine kinase. Investigations for any possible etiologies of rhabdomyolysis ...

19730022

[]

19681861

[ "Forty-two", "novel", "COL7A1", "mutations", "and", "the", "role", "of", "a", "frequent", "single", "nucleotide", "polymorphism", "in", "the", "MMP1", "promoter", "in", "modulation", "of", "disease", "severity", "in", "a", "large", "European", "dystrophic", "epi...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.

19681861

[ "BACKGROUND:", "Dystrophic", "epidermolysis", "bullosa", "(DEB)", "is", "a", "severe", "genetic", "skin", "blistering", "disorder", "caused", "by", "mutations", "in", "the", "gene", "COL7A1,", "encoding", "collagen", "VII.", "Recently,", "the", "MMP1", "promoter", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 5, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a severe genetic skin blistering disorder caused by mutations in the gene COL7A1, encoding collagen VII. Recently, the MMP1 promoter single nucleotide polymorphism (SNP) rs1799750 , designated as 1G 2G, was shown to be involved in modulation of disease severity in p...

19681861

[]

19559455

[ "A", "combination", "of", "defective", "DNA", "and", "protective", "host", "factors", "are", "found", "in", "a", "set", "of", "HIV-1", "ancestral", "LTNPs." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A combination of defective DNA and protective host factors are found in a set of HIV-1 ancestral LTNPs.

19559455

[ "We", "studied", "viral", "evolution", "in", "three", "HIV-1", "ancestral", "patients", "from", "a", "group", "of", "LTNPs;", "although", "some", "minor", "sequences", "showing", "viral", "evolution", "were", "detected", "in", "all", "patients,", "the", "extreme...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We studied viral evolution in three HIV-1 ancestral patients from a group of LTNPs; although some minor sequences showing viral evolution were detected in all patients, the extremely low viral evolution of their viruses was shown by the phylogenetic analysis of the env sequences. Complete nucleotide sequencing of viral...

19559455

[]

19542096

[ "Mutation", "of", "SYNE-1,", "encoding", "an", "essential", "component", "of", "the", "nuclear", "lamina,", "is", "responsible", "for", "autosomal", "recessive", "arthrogryposis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

19542096

[ "Arthrogryposis", "multiplex", "congenita", "(AMC)", "is", "a", "group", "of", "disorders", "characterized", "by", "congenital", "joint", "contractures", "caused", "by", "reduced", "fetal", "movements.", "AMC", "has", "an", "incidence", "of", "1", "in", "3000", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital joint contractures caused by reduced fetal movements. AMC has an incidence of 1 in 3000 newborns and is genetically heterogeneous. We describe an autosomal recessive form of myogenic AMC in a large consanguineous family. The di...

19542096

[]

19477219

[ "Identified", "hidden", "genomic", "changes", "in", "mantle", "cell", "lymphoma", "using", "high-resolution", "single", "nucleotide", "polymorphism", "genomic", "array." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Identified hidden genomic changes in mantle cell lymphoma using high-resolution single nucleotide polymorphism genomic array.

19477219

[ "OBJECTIVE:", "Mantle", "cell", "lymphoma", "(MCL)", "is", "a", "lymphoma", "characterized", "by", "aberrant", "activation", "of", "CCND1/cyclin", "D1", "followed", "by", "sequential", "genetic", "abnormalities.", "Genomic", "abnormalities", "in", "MCL", "have", "be...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

OBJECTIVE: Mantle cell lymphoma (MCL) is a lymphoma characterized by aberrant activation of CCND1/cyclin D1 followed by sequential genetic abnormalities. Genomic abnormalities in MCL have been extensively examined by classical cytogenetics and microarray-based comparative genomic hybridization techniques, pointing out ...

19477219

[]

19444361

[ "COL3A1", "2209G>A", " ", "is", "a", "predictor", "of", "pelvic", "organ", "prolapse." ]

[ 0, 1, 0, 0, 0, 0, 0, 0, 0, 0 ]

COL3A1 2209G>A is a predictor of pelvic organ prolapse.

19444361

[ "INTRODUCTION", "AND", "HYPOTHESIS:", "A", "familial", "tendency", "has", "been", "demonstrated", "in", "the", "etiology", "of", "pelvic", "organ", "prolapse", "(POP),", "but", "the", "specific", "genetic", "defects", "have", "not", "been", "identified.", "Type", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

INTRODUCTION AND HYPOTHESIS: A familial tendency has been demonstrated in the etiology of pelvic organ prolapse (POP), but the specific genetic defects have not been identified. Type III collagen is an important factor in the repair of connective tissue, and gene polymorphisms may impair the tensile strength. We hypoth...

19444361

[]

19429807

[ "A", "novel", "ATP7A", "gross", "deletion", "mutation", "in", "a", "Korean", "patient", "with", "Menkes", "disease." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.

19429807

[ "Menkes", "disease", "(MD,", "MIM", "309400)", "is", "a", "fatal", "X-linked", "recessive", "disorder", "that", "is", "caused", "by", "mutations", "in", "the", "gene", "encoding", "ATP7A,", "a", "copper-transporting,", "P-type", "ATPase.", "Patients", "with", "M...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Menkes disease (MD, MIM 309400) is a fatal X-linked recessive disorder that is caused by mutations in the gene encoding ATP7A, a copper-transporting, P-type ATPase. Patients with MD are characterized by progressive hypotonia, seizures, failure to thrive, and death in early childhood. Two Korean patients were diagnosed ...

19429807

[]

19394258

[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

19394258

[ "Deoxyguanosine", "kinase", "(dGK)", "deficiency", "is", "a", "frequent", "cause", "of", "mitochondrial", "DNA", "depletion", "associated", "with", "a", "hepatocerebral", "phenotype.", "In", "this", "study,", "we", "describe", "a", "new", "splice", "site", "mutati...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clinical, radiologic, and genetic features of these DGUOK patients. This new DGUOK homozygous mutation ( c...

19394258

[]

19365571

[ "Macular", "corneal", "dystrophy", "in", "a", "Chinese", "family", "related", "with", "novel", "mutations", "of", "CHST6." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6.

19365571

[ "PURPOSE:", "To", "identify", "mutations", "in", "the", "carbohydrate", "sulfotransferase", "gene", "(CHST6)", "for", "a", "Chinese", "family", "with", "macular", "corneal", "dystrophy", "(MCD)", "and", "to", "investigate", "the", "histopathological", "changes", "in...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. METHODS: A corneal button of the proband was obtained by penetrating keratoplasty. The half button and ultra...

19365571

[]

19298002

[ "Genetic", "polymorphism", "in", "chemokine", "CCL22", "and", "susceptibility", "to", "Helicobacter", "pylori", "infection-related", "gastric", "carcinoma." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Genetic polymorphism in chemokine CCL22 and susceptibility to Helicobacter pylori infection-related gastric carcinoma.

19298002

[ "BACKGROUND:", "Gastric", "carcinoma", "is", "widely", "considered", "to", "be", "related", "to", "Helicobacter", "pylori", "infection,", "and", "the", "chemokine", "(C-C", "motif)", "ligand", "22", "(CCL22)", "plays", "an", "important", "role", "in", "suppressing...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Gastric carcinoma is widely considered to be related to Helicobacter pylori infection, and the chemokine (C-C motif) ligand 22 (CCL22) plays an important role in suppressing immune responses against H. pylori and tumor cells. In this study, the authors examined the association between single nucleotide poly...

19298002

[]

19132389

[ "Impact", "of", "pepsinogen", "C", "polymorphism", "on", "individual", "susceptibility", "to", "gastric", "cancer", "and", "its", "precancerous", "conditions", "in", "a", "Northeast", "Chinese", "population." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Impact of pepsinogen C polymorphism on individual susceptibility to gastric cancer and its precancerous conditions in a Northeast Chinese population.

19132389

[ "PURPOSE:", "Human", "pepsinogen", "C", "(PGC)", "is", "an", "aspartic", "protease", "produced", "specifically", "by", "the", "gastric", "mucosa,", "and", "is", "considered", "as", "a", "mature", "marker", "of", "gastric", "epithelium.", "This", "study", "examin...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: Human pepsinogen C (PGC) is an aspartic protease produced specifically by the gastric mucosa, and is considered as a mature marker of gastric epithelium. This study examined the contributions of PGC polymorphisms and the Helicobacter pylori (H. pylori) infection to the risk of gastric cancer (GC), and its prec...

19132389

[]

19129715

[ "Three", "novel", "IGFALS", "gene", "mutations", "resulting", "in", "total", "ALS", "and", "severe", "circulating", "IGF-I/IGFBP-3", "deficiency", "in", "children", "of", "different", "ethnic", "origins." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.

19129715

[ "BACKGROUND/AIMS:", "To", "date,", "four", "mutations", "in", "the", "IGFALS", "gene", "have", "been", "reported.", "We", "now", "describe", "two", "children", "of", "different", "ethnic", "background", "with", "total", "acid-labile", "subunit", "(ALS)", "and", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND/AIMS: To date, four mutations in the IGFALS gene have been reported. We now describe two children of different ethnic background with total acid-labile subunit (ALS) and severe circulating IGF-I/IGFBP-3 deficiencies resulting from three novel mutations in the IGFALS gene. PATIENTS/METHODS: Serum and DNA of p...

19129715

[]

19110214

[ "A", "recessive", "skeletal", "dysplasia,", "SEMD", "aggrecan", "type,", "results", "from", "a", "missense", "mutation", "affecting", "the", "C-type", "lectin", "domain", "of", "aggrecan." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

19110214

[ "Analysis", "of", "a", "nuclear", "family", "with", "three", "affected", "offspring", "identified", "an", "autosomal-recessive", "form", "of", "spondyloepimetaphyseal", "dysplasia", "characterized", "by", "severe", "short", "stature", "and", "a", "unique", "constellat...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Analysis of a nuclear family with three affected offspring identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings. Homozygosity for a haplotype that was identical by descent between two of the affected individu...

19110214

[]

19101703

[ "Study", "of", "a", "Taiwanese", "family", "with", "oculopharyngeal", "muscular", "dystrophy." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.

19101703

[ "BACKGROUND:", "Oculopharyngeal", "muscular", "dystrophy", "(OPMD)", "is", "a", "late", "onset", "autosomal", "dominant", "muscle", "disorder.", "OPMD", "is", "caused", "by", "a", "short", "trinucleotide", "repeat", "expansion", "encoding", "an", "expanded", "polyal...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. OPMD is caused by a short trinucleotide repeat expansion encoding an expanded polyalanine tract in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. We identified and characterized a PABPN1 mutation in a T...

19101703

[]

19082493

[ "Combination", "of", "polymorphisms", "within", "5'", "and", "3'", "untranslated", "regions", "of", "thymidylate", "synthase", "gene", "modulates", "survival", "in", "5", "fluorouracil-treated", "colorectal", "cancer", "patients." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Combination of polymorphisms within 5' and 3' untranslated regions of thymidylate synthase gene modulates survival in 5 fluorouracil-treated colorectal cancer patients.

19082493

[ "In", "the", "present", "study", "we", "explored", "the", "effect", "of", "three", "polymorphisms", "of", "the", "TS", "gene", "on", "overall", "and", "progression-", "free", "survival", "of", "colorectal", "cancer", "(CRC)", "patients", "subjected", "to", "5F...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

In the present study we explored the effect of three polymorphisms of the TS gene on overall and progression- free survival of colorectal cancer (CRC) patients subjected to 5FU chemotherapy. A 28 bp variable number of tandem repeats (VNTR), a G/C single nucleotide polymorphism (SNP), and a deletion of 6 bp at positio...

19082493

[]

19047089

[ "Genome-wide", "loss", "of", "heterozygosity", "and", "uniparental", "disomy", "in", "BRCA1/2-associated", "ovarian", "carcinomas." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Genome-wide loss of heterozygosity and uniparental disomy in BRCA1/2-associated ovarian carcinomas.

19047089

[ "PURPOSE:", "The", "importance", "of", "the", "BRCA", "gene", "products", "in", "maintaining", "genomic", "stability", "led", "us", "to", "hypothesize", "that", "BRCA-associated", "and", "sporadic", "ovarian", "cancers", "would", "have", "distinctive", "genetic", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: The importance of the BRCA gene products in maintaining genomic stability led us to hypothesize that BRCA-associated and sporadic ovarian cancers would have distinctive genetic profiles despite similarities in histologic appearance. EXPERIMENTAL DESIGN: A whole-genome copy number analysis of fresh, frozen, pap...

19047089

[]

19037252

[ "Mutations", "in", "phospholipase", "C", "epsilon", "1", "are", "not", "sufficient", "to", "cause", "diffuse", "mesangial", "sclerosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

19037252

[ "Diffuse", "mesangial", "sclerosis", "occurs", "as", "an", "isolated", "abnormality", "or", "as", "a", "part", "of", "a", "syndrome.", "Recently,", "mutations", "in", "phospholipase", "C", "epsilon", "1", "(PLCE1)", "were", "found", "to", "cause", "a", "nonsyn...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three children from one consanguineous kindred of Pakistani origin with diffus...

19037252

[]

19012332

[ "Somatic", "TP53", "mutation", "mosaicism", "in", "a", "patient", "with", "Li-Fraumeni", "syndrome." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

Somatic TP53 mutation mosaicism in a patient with Li-Fraumeni syndrome.

19012332

[ "We", "present", "a", "girl", "who", "developed", "adrenocortical", "adenoma", "at", "the", "age", "of", "1", "year", "and", "osteosarcoma", "at", "the", "age", "of", "5", "years.", "There", "was", "no", "history", "of", "cancer", "in", "her", "parents", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0...

We present a girl who developed adrenocortical adenoma at the age of 1 year and osteosarcoma at the age of 5 years. There was no history of cancer in her parents and their relatives. However, both tumors were typical for the Li-Fraumeni syndrome (LFS), and the patient met criteria for germline TP53 mutation testing. A ...

19012332

[]

18838613

[ "A", "comprehensive", "analysis", "of", "the", "CDKN2A", "gene", "in", "childhood", "acute", "lymphoblastic", "leukemia", "reveals", "genomic", "deletion,", "copy", "number", "neutral", "loss", "of", "heterozygosity,", "and", "association", "with", "specific", "cyto...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups.

18838613

[ "Inactivation", "of", "the", "tumor", "suppressor", "gene,", "CDKN2A,", "can", "occur", "by", "deletion,", "methylation,", "or", "mutation.", "We", "assessed", "the", "principal", "mode", "of", "inactivation", "in", "childhood", "acute", "lymphoblastic", "leukemia",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Inactivation of the tumor suppressor gene, CDKN2A, can occur by deletion, methylation, or mutation. We assessed the principal mode of inactivation in childhood acute lymphoblastic leukemia (ALL) and frequency in biologically relevant subgroups. Mutation or methylation was rare, whereas genomic deletion occurred in 21% ...