bluuebunny/crossref_metadata_2025_split huggingface dataset:
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
Authors: Brunetti‐Pierri Nicola , Lachman Ralph , Lee Kwanghyuk , Leal Suzanne M. , Piccolo Pasquale , Van Den Veyver Ignatia B. , Bacino Carlos A. 
Published: June 2010

AbstractTerminal osseous dysplasia with pigmentary defects (TODPD) is an X‐linked dominant syndrome with distal limb anomalies and pigmentary skin defects. We have previously described this syndrome in several females from a large, four‐generation pedigree. The presentation in the affected patients included multiple anomalies, hypertelorism, iris colobomas, punched‐out pigmentary abnormalities over the face and scalp, brachydactyly, and digital fibromatosis. The phenotype was highly variable thus suggesting that X‐inactivation plays an important role in the expression of the disease. Following our initial description of this condition there have been reports of more cases supporting the initial phenotypic description of this disease. We report on the follow‐up of this family at about 10 years from the first evaluation. A detailed clinical follow‐up and a review of the skeletal surveys suggests that although the most striking features involves the hands and feet, the skeletal involvement is more generalized and affects many other areas. Our previous linkage analysis has demonstrated mapping to Xq27.3‐Xq28. Using a 6,056 SNP array, we have further refined the critical region within the Xq28 region. We have also excluded two candidate genes (FLNA and FAM58A) mapping in the critical region. The identification of the gene responsible for this rare condition will shed light on the molecular pathways leading to the various congenital anomalies of TODPD and will allow a more accurate genetic counseling to the affected individuals. © 2010 Wiley‐Liss, Inc.
Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson–McMillin syndrome?
Authors: Zechi‐Ceide Roseli Maria , Guion‐Almeida Maria Leine , Jehee Fernanda Sarquis , Rocha Katia , Passos‐Bueno Maria Rita Santos 
Published: June 2010

AbstractWe describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson–McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson–McMillin syndrome. © 2010 Wiley‐Liss, Inc.
Epidemiology of congenital idiopathic talipes equinovarus in Iowa, 1997–2005
Authors: Kancherla Vijaya , Romitti Paul A. , Caspers Kristin M. , Puzhankara Soman , Morcuende Jose A. 
Published: June 2010

AbstractCongenital idiopathic talipes equinovarus (ITEV), also known as clubfoot, is a well‐recognized foot deformity. To date, prevalence estimates and descriptive data reported for ITEV have varied due to differences in study methodology. Using population‐based surveillance data collected by the Iowa Registry for Congenital and Inherited Disorders, we examined isolated ITEV births delivered from 1997 through 2005 and compared to live births in Iowa during the same time period. An overall prevalence was calculated for live, singleton full‐term births only. Prevalence odds ratios (POR)s and 95% confidence intervals (CI)s were examined for selected infant and parental characteristics. The prevalence of isolated ITEV was 11.4 per 10,000 live, singleton full‐term births (95% CI = 10.3, 12.6), with no significant variation in prevalence during the study period. Increased PORs were found for males (POR 1.8; 95% CI = 1.5, 2.3) and maternal smoking during pregnancy (POR = 1.5, 95% CI = 1.2, 1.9); low birth weight (<2,500 g) showed an increase among females (POR = 3.2, 95% CI = 1.5, 6.9) but not males (POR = 0.9, 95% CI = 0.3, 2.8). Elevated, but non‐significant, PORs were found for season of birth, maternal education, and trimester prenatal care was initiated; decreased PORs were found for fetal presentation, maternal race/ethnicity, parity, area of residence, and parental age at delivery. Our study of a well‐defined, homogenous sample suggested that prevalence of isolated ITEV in Iowa was similar to that reported in other population‐based studies and provided support for some, but not all, previously reported associations with infant and parental characteristics. More detailed, longitudinal studies of isolated ITEV are recommended. © 2010 Wiley‐Liss, Inc.
Follow‐up association studies of chromosome region 9q and nonsyndromic cleft lip/palate
Authors: Letra Ariadne , Menezes Renato , Govil Manika , Fonseca Renata F. , McHenry Toby , Granjeiro José M. , Castilla Eduardo E. , Orioli Iêda M. , Marazita Mary L. , Vieira Alexandre R. 
Published: June 2010

AbstractCleft lip/palate comprises a large fraction of all human birth defects, and is notable for its significant lifelong morbidity and complex etiology. Several studies have shown that genetic factors appear to play a significant role in the etiology of cleft lip/palate. Human chromosomal region 9q21 has been suggested in previous reports to contain putative cleft loci. Moreover, a specific region (9q22.3–34.1) was suggested to present a ∼45% probability of harboring a cleft susceptibility gene. Fine mapping of 50 SNPs across the 9q22.3–34.11 region was performed to test for association with cleft lip/palate in families from United States, Spain, Turkey, Guatemala, and China. We performed family‐based analyses and found evidence of association of cleft lip/palate withSTOM(rs306796) in Guatemalan families (P = 0.004) and in all multiplex families pooled together (P = 0.002). This same SNP also showed borderline association in the US families (P = 0.04). Under a nominal value of 0.05, other SNPs also showed association with cleft lip/palate and cleft subgroups. SNPs inSTOMandPTCHgenes and nearbyFOXE1were further associated with cleft phenotypes in Guatemalan and Chinese families. Gene prioritization analysis revealedPTCHandSTOMranking among the top fourteen candidates for cleft lip/palate among 339 genes present in the region. Our results support the hypothesis that the 9q22.32–34.1 region harbors cleft susceptibility genes. Additional studies with other populations should focus on these loci to further investigate the participation of these genes in human clefting. © 2010 Wiley‐Liss, Inc.
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1
Authors: Nimmo Graeme , Monsonego Sarah , Descartes Maria , Franklin Judith , Steinberg Steven , Braverman Nancy 
Published: June 2010

AbstractRhizomelic chondrodysplasia punctata (RCDP) is an autosomal‐recessive disorder resulting from mutations in one of three peroxisomal genes essential for ether lipid biosynthesis, PEX7 (RCDP1), GNPAT (RCDP2), and AGPS (RCDP3). Affected patients have characteristic features including shortening of the proximal long bones, epiphyseal stippling, bilateral cataracts, growth and developmental delays. Whereas the majority of patients have RCDP type 1, around 5% have RCDP type 2 or 3. We identified a patient with RCDP type 2 and an apparent homozygous deletion, c.1428delC, after full sequencing of his GNPAT genes. The father was heterozygous for this mutation, while sequencing of the maternal GNPAT genes revealed only wild‐type sequence. Southern analyses performed on parental gDNA did not show evidence of a maternal gene deletion. Amplification and fragment analysis of dinucleotide repeat markers spanning chromosome 1 in the patient and both parents revealed paternal uniparental inheritance. We discuss the potential mechanisms causing uniparental disomy (UPD) in this patient and review the literature on chromosome 1 UPD. The absence of non‐RCDP clinical features in this patient was consistent with previous literature supporting the absence of imprinted genes on chromosome 1. This first description of RCDP caused by UPD dramatically changes the parental recurrence risk, highlighting the value of obtaining parental genotypes when the proband has a putative homozygous mutation by sequence analysis. © 2010 Wiley‐Liss, Inc.
Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate
Authors: Salahshourifar Iman , Halim Ahmad Sukari , Sulaiman Wan Azman Wan , Zilfalil Bin Alwi 
Published: June 2010

AbstractWe describe a chromosome 6 uniparental disomy (UPD6) in a boy, discovered during a screening for the genetic cause of cleft lip and palate. In the medical literature, almost all documented cases of UPD6 are paternal in origin, and only four were maternal. We present here a report of complete maternal chromosome 6 uniparental heterodisomy. Haplotype analysis was performed using highly polymorphic short tandem repeat (STR) markers that span both arms of chromosome 6. Analysis of these markers revealed the presence of two maternal alleles but no paternal allele, indicating an instance of maternal uniparental heterodisomy. Chromosome analysis of peripheral blood lymphocytes confirmed a normal male karyotype. Advanced maternal age at the time of the infant's birth and heterodisomy of markers around the centromere favors a meiosis‐I error. No specific phenotype has been reported for maternal UPD6. Therefore, the cleft lip and palate in the present case probably occurred due to other risk factors. This report provides further evidence that maternal UPD6 has no specific clinical consequences and adds to the collective knowledge of this rare chromosomal finding. © 2010 Wiley‐Liss, Inc.
Acute necrotizing encephalopathy during novel influenza A (H1N1) virus infection
Authors: Mariotti Paolo , Iorio Raffaele , Frisullo Giovanni , Plantone Domenico , Colantonio Raffaella , Tartaglione Tommaso , Batocchi Anna Paola , Valentini Piero 
Published: June 2010

AbstractA novel swine‐origin influenza A (H1N1) virus was recently identified in Mexico. Some cases of infection with neurological complications have been reported to date. We report a case of acute necrotizing encephalopathy associated with the novel H1N1 virus in a 2‐year‐old European girl who suddenly developed fever, seizures, and altered mental status. Brain and spinal cord magnetic resonance imaging showed bilateral symmetrical lesions of the insulae, thalami, geniculate bodies, and pons tegmentum suggestive of an acute necrotizing encephalopathy. An involvement of meninges and spinal cord was observed configuring an acute necrotizing meningoencephalomyelitis. ANN NEUROL 2010;68:111–114
Analysis of Cardiac Development in the Turtle Emys orbicularis (Testudines: Emidydae) using 3‐D Computer Modeling from Histological Sections
Authors: Bertens Laura M.F. , Richardson M.K. , Verbeek F.J. 
Published: June 2010

AbstractSurface representation of the heart and great vessels of developmental stage 10 of the European pond turtle, Emys orbicularis. See Bertens, et al., on page 1101, in this issue.
ChemInform Abstract: Structural Study of the Rare‐Earth Transition‐Metal Intermetallic Compound Nd3Ni29Si4B10.
Authors: ZHANG H. , WU E. , CAMPBELL S. J. , KENNEDY S. J. , LI H.‐S. , STUDER A. J. , BULCOCK S. R. , RAE A. D. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Neutron Diffraction Studies of Zr‐Containing Intermetallic Hydrides with Ordered Hydrogen Sublattice. Part 2. Orthorhombic Zr3FeD6.7 with Filled Re3B‐Type Structure.
Authors: YARTYS V. A. , FJELLVAAG H. , HAUBACK B. C. , RIABOV A. B. , SOERBY M. H. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Crystal Structure Determination of AlVMoO7 from X‐Ray Powder Diffraction Data.
Authors: KNORR K. , JAKUBUS P. , DABROWSKA G. , KURZAWA M. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Counterion Effects in Pd Polyselenides: Evolution from Molecular to Three‐Dimensional Framework Structures.
Authors: KIM K.‐W. , KANATZIDIS M. G. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Preparation and Properties of Li—Co—O Compounds.
Authors: ANTOLINI E. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: From ZnO Colloids to Nanocrystalline Highly Conductive Films.
Authors: HILGENDORFF M. , SPANHEL L. , ROTHENHAEUSLER CH. , MUELLER G. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Difluoro[2.2]paracyclophanes. Characterization by 1H, 13C and 19F NMR.
Authors: HUANG X. , QU F. , MARAT K. , JANZEN A. F. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Benzocyclynes Adhere to Hueckel′s Rule by the Ring Current Criterion in Experiment (1H NMR) and Theory (NICS)
Authors: MATZGER A. J. , VOLLHARDT K. P. C. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Conformational Analysis of Heterocyclic Analogues of 5,6,11,12‐Tetrahydrodibenzo[a,e]cyclooctene (I): 6,7,14,15‐Tetrahydrobisbenzimidazo[1,2‐a:1′,2′‐e][1,5]diazocine (II) and 6,7,13,14‐Tetrahydrobispyrido[1,2‐a:1′,2′‐e]diazocinediium Dibromide (III).
Authors: CLARAMUNT R. M. , LAVANDERA J. L. , SANZ D. , ELGUERO J. , JIMENO M. L. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: 2,3,4,5‐Tetrahydrocyclohepta[b]pyrido [2,1‐a]benzimidazole‐7‐carbonitrile.
Authors: ELGEMEIE G. E. H. , FATHY N. M. , HOPF H. , DIX I. , JONES P. G. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: 2′,4′‐Dihydroxy‐2‐[3‐(4‐methylphenyl)isoxazol‐5‐yl]acetophenone.
Authors: KUMAR N. , ROY S. , PARMAR V. S. , ERRINGTON W. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: sp‐9‐[o‐(β‐Chloro‐α,α‐dimethylethyl)phenyl]fluorene: An Unanticipated Exclusive Product from the Reaction of sp‐9‐(o‐tert‐Butylphenyl)‐9‐fluorenol with Thionyl Chloride.
Authors: ROBINSON P. D. , HOU Y. , MEYERS C. Y. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Enolization Enthalpies for Aliphatic Carbonyl and Thiocarbonyl Compounds.
Authors: ZHANG X.‐M. , MALICK D. , PETERSSON G. A. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: A New Mechanism for the First Carbon—Carbon Bond Formation in the MTG Process: A Theoretical Study
Authors: TAJIMA N. , TSUNEDA T. , TOYAMA F. , HIRAO K. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Macrocyclic Polyethers as Enolate Activators in Base‐Catalyzed Phase‐Transfer Reactions
Authors: GOBBI A. , LANDINI D. , MAIA A. , PETRICCI S. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Bifunctional Catalysts for Catalytic Asymmetric Sulfur Ylide Epoxidation of Carbonyl Compounds.
Authors: AGGARWAL V. K. , BELL L. , COOGAN M. P. , JUBAULT P. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Enantioselective Trimethylsilylcyanation of Aldehydes Catalyzed by Chiral Lanthanoid Alkoxides.
Authors: QIAN C. , ZHU C. , HUANG T. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: New Chiral o‐(Phosphinoamido)phenyl Sulfoxide Ligands in Palladium‐Catalyzed Asymmetric Allylic Alkylations.
Authors: HIROI K. , SUZUKI Y. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Asymmetric Synthesis of Axially Chiral 1‐(2′‐Methyl‐3′‐indenyl)naphthalenes via Prototropic Rearrangements of Stable Rotamers of 1‐(2′‐Methyl‐1′‐indenyl)naphthalenes.
Authors: BAKER R. W. , REEK J. N. H. , WALLACE B. J. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Highly Selective Allylation of Alkyl Methyl Ketones in the Presence of Chiral 2‐Amino Alcohol Derivatives.
Authors: TIETZE L. F. , WEGNER C. , WULFF C. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Homochiral (R)‐ and (S)‐1‐Heteroaryl‐ and 1‐Aryl‐2‐propanols via Microbial Redox.
Authors: FOGAGNOLO M. , GIOVANNINI P. P. , GUERRINI A. , MEDICI A. , PEDRINI P. , COLOMBI N. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Reactions of HOBt, HOOBt, HOSu with Dichloroalkane Solvents.
Authors: JI J. , ZHANG D. , YE Y. , XING Q. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Diels—Alder Reactions of Push‐Pull Olefins. Part 1. Reactions of Dicyanovinyl Acylates with Cyclopentadiene, 1,3‐Cyclohexadiene, and Anthracene.
Authors: DEES M. , OTTO H.‐H. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Some Cycloaddition Reactions of 5,8‐Dimethoxynaphtho[2,3‐c]furan‐4,9‐dione.
Authors: PIGGOTT M. J. , WEGE D. 
Published: June 2010

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 100 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.