bluuebunny/crossref_metadata_2025_split huggingface dataset:
Charcot‐Marie‐Tooth neuropathy type 1A mutation: Apparent crossovers with D17S122 are due to a duplication
Authors: Nicholson Garth A. , Kennerson Marina L. , Keats Bronya J. B. , Mesterovic Nikola , Churcher Wayne , Barker David , Ross David A. 
Published: June 2005

AbstractA locus for the slow conducting form of Charcot‐Marie‐Tooth neuropathy (CMT1A) was localised to the proximal short arm of chromosome 17, in band p11.2, distal to D17S58. Linkage studies of CMT1A in 3 large Australian families with the marker loci D17S58, D17S71, and D17S57 suggested the order, pter–CMT1A–D17S71–D17S58–centromere–D17S57. However, the estimate of the recombination fraction between CMT1A and D17S122, also assigned to p11.2, was incompatible with known map distances. The impasse was resolved when the D17S122 genotypes were revised to take into account a dosage effect due to a duplication. After correction of the genotypes, the maximum lod score between CMT1A and D17S122 increased from 0.53 at a recombination fraction of 0.3 to 34.28 at zero recombination. This result emphasizes that genotypes for markers in the p12–p11.2 region should be examined very carefully as ignoring the duplication changes the linkage results dramatically. The fact that no crossovers were found between CMT1A and D17S122 suggests that the duplication may cause the disease phenotype. © Wiley‐Liss, Inc.
Phenotypic evidence for a common pathogenesis in X‐linked deafness pedigrees and in Xq13–q21 deletion related deafness
Authors: Reardon W. , Roberts S. , Phelps P. D. , Thomas N. S. , Beck L. , Issac R. , Hughes H. E. 
Published: June 2005

AbstractA structural cochlear abnormality has been observed by high resolution CT scanning in some families where X‐linked deafness is segregating. We now present evidence that the same abnormality is present in a deaf patient who has a deletion within Xq21. This observation provides phenotypic evidence that the genotypic basis of deafness is the same in both patient groups. It is also likely that the peri‐lymphatic fluid “gusher” abnormality may be common to both. © Wiley‐Liss, Inc.
Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase a activity
Authors: Molzer Brunhilde , Sundt‐Heller Regine , Kainz‐Korschinsky Marina , Zobel Marta 
Published: June 2005

AbstractSulfatide excretion in urine and arylsulfatase A (ASA) activity in leukocytes were determined in 10 homozygotes of metachromatic leukodystrophy (MLD), 7 obligate and 5 facultative MLD heterozygotes, 6 low ASA subjects (not related to MLD homozygotes), and in 9 controls. As compared to controls (sulfatides: 0–2 nmol/mg lipid; ASA: 101–287 nmol p‐nitro‐catechol/mg protein/hr), MLD homozygotes displayed highly increased sulfatide excretions (27–280 nmol) and low residual ASA activities (0–13 nmol). Of 12 MLD heterozygotes (ASA: 18–87 nmol) 10 showed increased sulfatides (3–24 nmol). All heterozygotes with ASA activity <60 nmol (n = 8) had elevated sulfatide excretions (4–24 nmol). Thus, reduction of ASA activity below 40% of the mean value of controls seems to be the critical threshold for elevated sulfatide excretion in MLD heterozygotes. The low ASA subjects (ASA in the heterozygote range) excreted sulfatides in the control range, even those with ASA activities <60 nmoles (n = 3; including a definite homozygote for ASA‐pseudodeficiency; ASA: 25 nmol). Statistical evaluation of sulfatide excretion and ASA activity in all subjects (n = 37) revealed a significant inverse relation (Spearman rank correlation; R = 0.8278, P< 0.001). The finding of elevated sulfatide excretion in certain MLD heterozygotes might point to increase of sulfatides also in the nervous system. © Wiley‐Liss, Inc.
Prader‐Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13
Authors: Heleneörstavik Karen , Tangsrud Svein Erik , Kiil Ragnhild , Hansteen Inger‐Lise , Steen‐Johnsen Jon , Cassidy Suzanne B. , Martony Anna , Anvret Maria , Tommerup Niels , Bröndum‐Nielsen Karen 
Published: June 2005

AbstractWe report on a 12‐year‐old boy and his 7‐year‐old sister with the Prader‐Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed an increasing appetite. Both sibs have almond‐shaped eyes, triangular mouth, hypogonadism, retarded growth, and mental retardation. An older brother suffered from severe hypotonia and died at 7 days of age. The children have normal chromosomes by high‐resolution technique and have inherited the same chromosomes 15 short arm polymorphisms from their parents. The family was informative for one of four DNA markers specific for the 15q11q13 region. No deletion was found using this marker. The parents were healthy and unrelated. Autosomal recessive inheritance or a paternally inherited submicroscopic deletion are possible explanations for the sib occurrence in this family. © Wiley‐Liss, Inc.
Histidinuria: Defective transport of histidine
Authors: Nyhan William L. , Hilton Saskia 
Published: June 2005

AbstractA‐7‐year‐old boy was found to have histidinuria without histidinemia. Low concentrations of histidine in plasma were consistent with impaired intestinal and renal tubular absorption of histidine. The patient was developmentally delayed and had some minor anomalies. Only 4 other patients in 3 families have been reported. Each had abnormality of the central nervous system. All were male. © 1992 Wiley‐Liss, Inc.
Infant with del(3) (p25‐pter): Karyotype‐phenotype correlation and review of previously reported cases
Authors: Nienhaus H. , Mau U. , Zang K. D. 
Published: June 2005

AbstractWe describe a boy with monosomy for the distal part of the short arm of chromosome 3. He had a congenital heart defect, tetramelic hexadactyly, and typical craniofacial anomalies. Comparison with previously reported cases confirms that the phenotype consists of an identifiable pattern of malformation.
Twin studies of alzheimer disease: II. Some predictions under a genetic model
Authors: Breitner John C. S. , Murphy Edmond A. 
Published: June 2005

AbstractThe twin method for investigating genetic and environmental causes of disease has been applied mostly in early‐onset illnesses. Analysis of late‐onset disorders requires reexamination of common assumptions about the relation between genetic causes and the degree of concordance expected. This paper considers Alzheimer disease (AD) as an example of a late‐onset disorder with putative genetic factors. For argument it employs the strong hypothesis that AD is an autosomal dominant trait with age‐dependent expression, as described by a previously published parametric model. That model encompasses 2 principal variants of disease: a rare form with onset in middle life, and a more common late‐onset type which is nonetheless eventually fully penetrant. The present work then specifies the probability that, when a given member of a twin pair (the proband) is affected, an identical or fraternal cotwin also shows the disease. Such probability is expressed as a function of the age at onset of the proband and the current age of the pair. Even under strong working assumptions regarding genetic influence, the expected proportion of identical cotwins actually affected with AD will not exceed 40% until the subjects are about 80 years old. Therefore, except in very old subjects, modest twin concordance is a feeble argument against genetic causes, or in favor of exclusively environmental ones. In this sense the interpretation of results of twin studies in AD and other late‐onset disorders differs substantially from studies of diseases with early onset. © 1992 Wiley‐Liss, Inc.
Dietary folate and nonneural midline birth defects: No evidence of an association from a case‐control study in western australia
Authors: Bower Carol , Stanley Fiona J. 
Published: June 2005

AbstractIn a population‐based case‐control study of dietary folate and neural tube defects, information was collected by interview and self‐administered questionnaires from the mothers of cases with only neural tube defects, from the mothers of matched control infants with defects other than neural tube defects, and from the mothers of matched liveborn infants with no birth defects. The association of midline birth defects (excluding neural tube defects) with dietary folate intake in the first 6 weeks of pregnancy was assessed by restricting the analysis to the 59 mothers of infants with midline defects in the first control group and comparing them with their matched control infants in the second control group. The crude and adjusted odds ratios for dietary folate and for folic acid supplementation were close to one, and all confidence intervals embraced unity. These data do not provide evidence of an association between midline birth defects (excluding neural tube defects) and either dietary folate or folic acid supplementation. © 1992 Wiley‐Liss, Inc.
Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33‐qter
Authors: Menko F. H. , Madan K. , Baart J. A. , Beukenhorst H. L. 
Published: June 2005

AbstractWe have investigated a patient with the Robin sequence and a unilateral deficiency of the left forearm. She was found to have a terminal deletion of the long arm of chromosome 4, del(4)(q33). The clinical manifestations of this patient differ from those of 7 previously described patients with a deletion of the same segment. © 1992 Wiley‐Liss, Inc.
Late diagnosis of phenylketonuria in a bedouin mother
Authors: Usha R. , Uma R. , Farag T. I. , Girish Y. , Al‐Ghanim M. M. A. , Al‐Najdi K. , Al‐Awadi S. A. , El‐Badramany M. H. 
Published: June 2005

AbstractWe report on the first case of phenylketonuria in a Bedouin woman with 3 children having the phenylketonuria embryofetopathy. Herein, we discuss briefly hazards of late diagnosis of maternal phenylketonuria. © 1992 Wiley‐Liss, Inc.
Choanal atresia: Evidence for autosomal recessive inheritance
Authors: Gershoni‐Baruch Ruth 
Published: June 2005

AbstractThree individuals with choanal atresia were born in an inbred kindred. This report shows that nonsyndromal choanal atresia can be transmitted as an autosomal recessive trait. © 1992 Wiley‐Liss, Inc.
Acro‐fronto‐facio‐nasal dysostosis: Report of a new brazilian family
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , Pagnan Nina A. B. 
Published: June 2005

AbstractWe report on a Brazilian woman with severe mental retardation, facial and skeletal anomalies characterized by hypertelorism, eye anomalies, broad notched nasal tip, cleft lip, highly arched palate, camptobrachysyndactyly of fingers and toes, and anomalies of the feet. A similarly affected brother died at age one year. The clinical picture strongly suggest the diagnosis of the autosomal recessive acro‐fronto‐facio‐nasal dysostosis syndrome (AFFND). Clinical and genetic aspects are discussed. © 1992 Wiley‐Liss, Inc.
Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia
Authors: Lerone M. , Soliani M. , Corea D. , Romeo G. , Martucciello G. , Silengo M. C. 
Published: June 2005

AbstractFour unrelated cases of congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects were reported by McCredie and Reid in 1978 (J Pediatr 92:762–765). As contiguous segments of the cervical neural crest are involved in the development of diaphragm and arms, the authors suggested that an early injury to the cervical neural crest might be the common underlying pathogenesis. We describe here a further example of this malformation complex: a newborn with a left posterolateral diaphragmatic hernia associated with ipsilateral thumb hypoplasia. © 1992 Wiley‐Liss, Inc.
Quantitation of craniofacial anomalies in utero: Fetal Alcohol and Crouzon Syndromes and Thanatophoric Dysplasia
Authors: Escobar Luis F. , Bixler David , Padilla Lillie M. 
Published: June 2005

AbstractThe study of fetal growth and development by ultrasound has been greatly facilitated in the past few years by the availability of anthropometric standards for the fetal body. Thus, the obstetrician is able to discern between normal and grossly abnormal, and even to quantitate certain fine fetal structures such as the face. This paper presents results obtained from a group of 5 patients referred to the Medical Center from private practices in Indianapolis, Indiana. Prenatal cephalometric analyses by ultrasound suggested the presence of craniofacial anomalies in all 5 cases. However, such defects were not detectable by routine ultrasonographic examination. A clinical examination after birth of each of these 5 patients suggested the following diagnoses: Fetal Alcohol Syndrome (FAS) in 2 individuals, Fetal Alcohol Effects (FAE) in one individual, Crouzon Syndrome (CS) in one patient, and Thanatophoric Dyslpasia (TD) in one patient. In order to compare the craniofacial measurement values for each patient to normal standards, we developed Z‐Score profiles and Pattern Variability Indexes (PVI) as described by Garn et al. [1984, 1985]. The values presented here support the idea that even mildly abnormal fetal craniofacial patterns are detectable by this relatively new application of ultrasound. At the present time, no conclusions can be made regarding the diagnostic accuracy of these patterns and profiles. However, the potential value of fetal cephalometry for documenting craniofacial dysmorphology is clearly indicated. © 1993 Wiley‐Liss, Inc.
Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus
Authors: Ogata Tsutomu , Goodfellow Peter , Petit Christine , Maroteaux Pierre , Matsuo Nobutake 
Published: June 2005

AbstractThis is a follow‐up report on a male patient with a 46, Y, r(X) karyotype. Although he had no clinico‐radiological features of X‐linked recessive chondrodysplasia punctata (CDPX1), molecular studies revealed an Xp terminal deletion involving the putative region for the CDPX1 locus (PABX‐DXS31). We suspect that the absence of CDPX1 may be attributable to the nature of the disease and the extreme short stature of the patient (mean – 5.6 S.D.). © 1993 Wiley‐Liss, Inc.
Regulation of expression of the type I collagen genes
Authors: Slack James L. , Liska Deann J. , Bornstein Paul 
Published: June 2005

AbstractThe identification and functional analysis of DNA‐protein interactions in the intronic and 5′ flanking regions of the type I collagen genes has begun to define a series of cis‐elements and trans‐acting factors which regulate transcription of these genes. Studies such as these will eventually be expected to elucidate the mechanisms responsible for coordinate transcription of the α1 and α2 genes, a question which remains central to the field of collagen research. Although it is relatively straightforward to define sites of DNA‐protein binding, interpretation of the functional importance of such interactions can be extremely complex. Furthermore, while mutation or deletion of a particular binding site may alter the functional activity of a construct transfected into cultured cells, there is no guarantee that a similar change will have the same effect in vivo, where the entire gene locus is present in its native chromosomal context. Nevertheless, these kinds of in vitro studies offer the best current approach to defining and isolating transcription factors that control expression of the α1 and α2 genes. Ultimately, it will be necessary to test the activity of such factors (and their respective cis‐elements) in defined systems in vivo.
Heritable dentin defects: Nosology, pathology, and treatment
Authors: Ranta Helena , Lukinmaa Pirjo‐Liisa , Waltimo Janna 
Published: June 2005

AbstractHeritable dentin defects have been divided into 2 main categories: dentinogenesis imperfecta (DI) and dentin dysplasia (DD). Recent studies have shown that they share many features in common. Of the connective tissue diseases, only osteogenesis imperfecta (OI) has been linked to these disorders. So far, no definitive relation between the type of OI and the dental involvement can be established. Familial occurrence of DI with OI cannot be comprehensively explained by mutations in type I collagen genes. No information about the gene defects in DD is available. At the ultrastructural level, the organization of the normally cross‐striated collagen fibers in the dentin matrix varies markedly in patients affected by DI.
Psychosocial aspects of osteogenesis imperfecta: An update
Authors: Cole David E. C. 
Published: June 2005

AbstractOsteogenesis imperfecta (OI) is an inherited disorder in which affected individuals are stigmatized by virtue of physical differences from their peers. The extent to which these differences alter life style depend on the severity of the disorder, its natural history, the extent to which it affects social integration, the effect on physical appearance, and the presence of other affected family members. Some of these factors may adversely influence the ability of affected individuals to effectively adjust to their social and work environment and recognition of these factors may aid individuals and helpers in easing the path to a constructive life.
Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families
Authors: Mottes Monica , Sangalli Antonella , Pignatti Pier Franco 
Published: June 2005

AbstractThe allele frequencies of 2 new polymorphic markers of collagen type I proalpha 1 (COL1A1) and proalpha 2 (COL1A2) genes were determined in a random sample of chromosomes by polymerase chain reaction. The minor allele frequencies were 0.27 for COL1A1/+88Mn1I, and 0.39 for COL1A2/1446 PvuII RFLPs, respectively. These 2 polymorphisms increased the combined (PIC) values we previously determined in the Italian population with Southern blotting procedures, from 0.71 at the COL1A1 locus to 0.81, and from 0.71 at the COL1A2 locus to 0.88, respectively. With a combination of these markers, we have carried out the segregation analysis of 4 new families in which osteogenesis imperfecta (OI) segregated as a dominant trait. The disease segregated with COL1A1 in 2 OI type I families, and with COL1A2 in one OI type IV family. In one OI type I family the concordant locus was uncertain. This analysis was extended to the 7 dominant OI families we previously reported: in 3 out of 11 pedigrees either locus still could not be excluded, indicating the need for more genetic markers.COL1A1 and COL1A2 haplotype frequencies were compared in normal and OI chromosomes: no preferential association of the disease with a given haplotype was detected. The correlation between affected locus and clinical aspects is discussed.
Collagen fibrils of osteoid in osteogenesis imperfecta: Morphometrical analysis of the fibril diameter
Authors: Stöss H. , Freisinger P. 
Published: June 2005

AbstractComprehensive electron‐microscopic studies showed that the structure of the collagen fibrils in the osteoid is not uniform. In 82 cases of osteogenesis imperfecta (OI), the diameter of the collagen fibrils was determined mor‐phometrically under standardized magnification. The morphometric investigations of collagen fibrils of the osteoid in OI show clear differences in the four subtypes and in comparison with the control group.
Spondylo‐meta‐epiphyseal dysplasia (SMED), short limb‐hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology
Authors: Borochowitz Zvi , Langer Leonard O. , Gruber Helen E. , Lachman Ralph , Katznelson Mariassa Bat‐Miriam , Rimoin David L. 
Published: June 2005

AbstractWe report on a “new” severe short‐limb bone dysplasia which can be labeled descriptively a spondylo‐meta‐epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family.Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied.Consanguinity is present in 1 family. In addition to the described patient, 2 other short‐limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable. © 1993 Wiley‐Liss, Inc.
Chorionic villus sampling followed by amniocentesis in the same pregnancy
Authors: Donnenfeld Alan E. , Librizzi Ronald J. , Dunn Linda K. , Craparo Frank , Godmilow Lynn , Weiner Stuart 
Published: June 2005

AbstractIn our consecutive series of 2,574 chorionic villus sampling (CVS) patients, 146 women (5.7%) underwent a subsequent amniocentesis in the same pregnancy for the indications of absent or insufficient villi (3.3%), elevated maternal serum alpha‐fetoprotein (0.93%), CVS mosaicism (0.89%), culture failure (0.23%), specimen contamination (0.15%), and CVS aneuploidy (0.12%). Patients presenting for a CVS should be informed of the possible need for a subsequent amniocentesis in the same pregnancy. There is a need for individual prenatal diagnosis programs to analyze their own data and provide genetic counseling information which pertains specifically to their institution. © 1993 Wiley‐Liss, Inc.
Genetic counselling in Noonan syndrome
Authors: Sharland Michael , Morgan Maureen , Smith Gill , Burch Michael , Patton Michael A. 
Published: June 2005

AbstractA clinical and echocardiographic study is presented of 117 families with Noonan syndrome. The 117 families contained 144 individuals with typical Noonan syndrome. The age range of these individuals was from one week to 45 years (mean 12.0 years). One parent was definitely affected with Noonan syndrome in only 14% of the 117 families (mother 11%, father 3%). In a further 31% of families, one parent had possible signs of Noonan syndrome, based on facial appearance only. Within the apparently sporadic group of probands there was no evidence of increased parental age. Echocardiography demonstrated no cases of subclinical cardiac disease in all first degree relatives examined, and clinical examination alone missed no case of cardiac disease. Segregation analysis of affected pedigrees confirmed autosomal dominant inheritance. If both parents had only possible or no signs of Noonan syndrome, subsequent to the birth of the first child with Noonan syndrome in a family, an empiric recurrence risk of 5% was obtained. © 1993 Wiley‐Liss, Inc.
Dysspondylochondromatosis
Authors: Freisinger P. , Finidori G. , Maroteaux P. 
Published: June 2005

AbstractWe report on 3 unrelated patients with an unusual form of neonatal dwarfism with unequal limb length. Radiographs show multiple enchondromatosis of the tubular and the flat bones and severe segmentation abnormalities of the vertebral column. These observations differ from the hitherto described forms of multiple enchondromatosis with growth disorders of the spine, spondyloenchondroplasia, and others. Therefore we propose to delineate this disorder as a new entity. © 1993 Wiley‐Liss, Inc.
Otopalatodigital syndrome type II associated with omphalocele: Report of three cases
Authors: Young Katherine , Barth Christine K. , Moore Cynthia , Weaver David D. 
Published: June 2005

AbstractWe present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not co‐incidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects. © 1993 Wiley‐Liss, Inc.