Wiley
0148-7299
1096-8628
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Các bài báo tiêu biểu
Prader‐Willi syndrome: Current understanding of cause and diagnosisAbstract Prader‐Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, short stature, small hands and feet, mental deficiency, a characteristic face, and an interstitial deletion of the proximal long arm of chromosome 15 in about one‐half of the patients. The incidence is estimated to be about 1 in 25,000, and PWS is the most common syndromal cau... ... hiện toàn bộ
Tập 35 Số 3 - Trang 319-332 - 1990
Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1Abstract To identify genes responsible for the susceptibility for schizophrenia, and to test the hypothesis that schizophrenia is etiologically heterogeneous, we have studied 39 multiplex families from a systematic sample of schizophrenic patients. Using a complex autosomal dominant model, which considers only those with a diagnosis of schizophrenia or schizoaffecti... ... hiện toàn bộ
Tập 54 Số 1 - Trang 36-43 - 1994
Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndromeAbstract Velo‐cardio‐facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T‐cell deficiency suggesting that thes... ... hiện toàn bộ
Tập 44 Số 2 - Trang 261-268 - 1992
Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspringAbstract We investigated whether a woman's periconceptional use of a multivitamin containing folic acid was associated with a reduced risk for delivering offspring with a conotruncal heart defect or a limb deficiency. Data were derived from a population‐based case‐control study of fetuses and liveborn infants with conotruncal or limb defects among a 1987–88 cohort o... ... hiện toàn bộ
Tập 59 Số 4 - Trang 536-545 - 1995
Genetic study of nonsyndromic coronal craniosynostosisAbstract From a series of 1265 individuals with different craniosynostoses hospitalized between 1976 and 1993, 260 probands with nonsyndromic unilateral (181) or bilateral (79) coronal synostosis were analysed. The prevalence of craniosynostoses was estimated as 1 in 2100 children. In the group of coronal synostosis, family history was obtained on 192 probands in 18... ... hiện toàn bộ
Tập 55 Số 4 - Trang 500-504 - 1995
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerationsAbstract We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, c... ... hiện toàn bộ
Tập 7 Số 1 - Trang 47-74 - 1980
Nevoid basal cell carcinoma syndrome: Review of 118 affected individualsAbstract One hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. In aiming to ascertain all the affected families in Australia, we have examined the largest series to date. Relative frequencies of associated complications are presented and compared with those of the recen... ... hiện toàn bộ
Tập 50 Số 3 - Trang 282-290 - 1994
Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genesAbstract Using a systematically ascertained sample of 57 families, each having 2 or more members with a consensus diagnosis of schizophrenia (DSM‐III‐R criteria), we have carried out linkage studies of 520 loci, covering approximately 70% of the genome for susceptibility loci for schizophrenia. A two‐stage strategy based on lod score thresholds from simulation studi... ... hiện toàn bộ
Tập 60 Số 3 - Trang 252-260 - 1995
Genomic screen and follow‐up analysis for autistic disorderAbstract Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its underlying etiology. We have completed a genomic screen and follow‐up analysis to identify potential AutD... ... hiện toàn bộ
Tập 114 Số 1 - Trang 99-105 - 2002
Incorporating language phenotypes strengthens evidence of linkage to autismAbstract We investigated the effect of incorporating information about proband and parental structural language phenotypes into linkage analyses in the two regions for which we found the highest signals in our first‐stage affected sibling pair genome screen: chromosomes 13q and 7q. We were particularly interested in following up on our chromosome 7q finding in light... ... hiện toàn bộ
Tập 105 Số 6 - Trang 539-547 - 2001