Wiley
SCOPUS (1977-2002)
0148-7299
1096-8628
Cơ quản chủ quản: N/A
Phân tích ảnh hưởng
Các bài báo tiêu biểu
Prader‐Willi syndrome: Current understanding of cause and diagnosis
Tập 35 Số 3 - Trang 319-332 - 1990
AbstractPrader‐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 cause of human
obesity. DNA abnormal...
Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1
Tập 54 Số 1 - Trang 36-43 - 1994
AbstractTo 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 schizoaffective disorder as affected, a
random...
Deletions and microdeletions of 22q11.2 in velo‐cardio‐facial syndrome
Tập 44 Số 2 - Trang 261-268 - 1992
AbstractVelo‐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 these 2 conditions share a
common pat...
Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring
Tập 59 Số 4 - Trang 536-545 - 1995
AbstractWe 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 of births in
California. Telephone...
Genetic study of nonsyndromic coronal craniosynostosis
Tập 55 Số 4 - Trang 500-504 - 1995
AbstractFrom 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 180 pedigrees. The
male:female rati...
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations
Tập 7 Số 1 - Trang 47-74 - 1980
AbstractWe 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, congential heart defect, and
intra...
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals
Tập 50 Số 3 - Trang 282-290 - 1994
AbstractOne 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 recent English survey
by Evans et al. ...
Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes
Tập 60 Số 3 - Trang 252-260 - 1995
AbstractUsing 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 studies of our
sample identified regio...
Genomic screen and follow‐up analysis for autistic disorder
Tập 114 Số 1 - Trang 99-105 - 2002
AbstractAutistic 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 susceptibility loci. In stage on...
Incorporating language phenotypes strengthens evidence of linkage to autism
Tập 105 Số 6 - Trang 539-547 - 2001
AbstractWe 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 of two prior
reports of linkage ...