Wiley
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* Dữ liệu chỉ mang tính chất tham khảo
Sắp xếp:
Familial influence on age of onset among siblings with Huntington disease*Abstract In order to provide data relevant to a search for modifying genes for age of onset in Huntington disease, we examined the relationship between CAG number and age of onset in a total of 370 individuals from 165 siblingships, in two cohorts of siblings with Huntington disease: an American group of 144 individuals from 64 siblingships, and a Canadian populatio... ... hiện toàn bộ
Wiley - Tập 105 Số 5 - Trang 399-403 - 2001
Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)Abstract In a Portuguese‐American family with hereditary amyloid neuropathy (familial amyloidotic polyneuropathy), onset was in the seventh decade in all affected relatives. Another unusual characteristic was their origin from the Portuguese island of Madeira. In spite of this, the mutant transthyretin (TTRMet30 ) (the ... ... hiện toàn bộ
Wiley - Tập 27 Số 2 - Trang 345-357 - 1987
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomaliesAbstract Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of dysmorphology and mental retardation. To determine whether the clinical cytogenetics laboratory should screen routinely for these aberrations, we have tested 250 patients with idiopathic mental retardation/developmental delay, either isolated (53) or associated with dys... ... hiện toàn bộ
Wiley - Tập 107 Số 4 - Trang 285-293 - 2002
Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndromeAbstract In a series of 25 Japanese patients with Rubinstein‐Taybi syndrome, we screened, by high‐resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high‐resolution banding...
Wiley - Tập 53 Số 4 - Trang 352-354 - 1994
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
Wiley - Tập 54 Số 1 - Trang 36-43 - 1994
Congenital androgen insensitivity due to a qualitatively abnormal androgen receptorAbstract Complete or incomplete androgen insensitivity (AI) not associated with deficient specific 5α‐dihydrotestosterone (DHT)‐receptor activity in cultured genital skin fibroblasts may result from a qualitative receptor abnormality or a postreceptor defect in target cell sensitivity to DHT. We have studied a sporadic patient with complete AI whose mean receptor ca... ... hiện toàn bộ
Wiley - Tập 10 Số 1 - Trang 91-99 - 1981
Formation of mineralized nodules by bone derived cells in vitro: A model of bone formation?Abstract The identification of the factors which regulate the proliferation and differentiation of cells of the osteoblast lineage remains one of the major challenges in the field of bone cell biology. Although considerable progress has been made in the isolation and culture of cells of the osteoblast lineage from both animal and, more recently, human bone, uncertai... ... hiện toàn bộ
Wiley - Tập 45 Số 2 - Trang 163-178 - 1993
A comparison of three affected‐sib‐pair scoring methods to detect HLA‐linked disease susceptibility genesAbstract Two widely used affected‐sib‐pair scoring procedures (the Green and Woodrow [1977] procedure, and the method of forming all possible affected‐sib‐pairs) are compared with a new method for their relative efficiency in detecting the presence of an HLA‐linked disease susceptibility gene. Their relative performance is investigated by extensive computer simulati... ... hiện toàn bộ
Wiley - Tập 18 Số 1 - Trang 135-146 - 1984
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
Wiley - Tập 55 Số 4 - Trang 500-504 - 1995
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: A clinicopathologic study
Wiley - Tập 28 Số S3 - Trang 191-207 - 1987
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