American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SCOPUS (1980-1981,1984-1985,1987-1989,1991-1996,1999-2025)SCIE-ISI
1552-4876
1552-4868
Mỹ
Cơ quản chủ quản: Wiley-Liss Inc. , WILEY
Lĩnh vực:
Genetics (clinical)Genetics
Các bài báo tiêu biểu
The 2017 international classification of the Ehlers–Danlos syndromes
Tập 175 Số 1 - Trang 8-26 - 2017
The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous
group of heritable connective tissue disorders (HCTDs) characterized by joint
hypermobility, skin hyperextensibility, and tissue fragility. Over the past two
decades, the Villefranche Nosology, which delineated six subtypes, has been
widely used as the standard for clinical diagnosis of EDS. For most of these
subtypes...
Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
Tập 137C Số 1 - Trang 53-71 - 2005
AbstractOvergrowth syndromes (OGS) comprise a heterogeneous group of disorders
in which the main characteristic is that either weight, height, or head
circumference is 2–3 standard deviations (SD) above the mean for sex and age. A
striking feature of OGS is the risk of neoplasms. Here, the relative frequency
of specific tumors in each OGS, topographic location, and age of appearance is
determined ...
Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
Tập 142C Số 2 - Trang 95-103 - 2006
AbstractIsovaleric acidemia (IVA) is an autosomal recessive inborn error of
leucine metabolism caused by a deficiency of the mitochondrial enzyme
isovaleryl‐CoA dehydrogenase (IVD) resulting in the accumulation of derivatives
of isovaleryl‐CoA. It was the first organic acidemia recognized in humans and
can cause significant morbidity and mortality. Early diagnosis and treatment
with a protein rest...
SWI/SNF chromatin remodeling complexes and cancer
Tập 166 Số 3 - Trang 350-366 - 2014
The identification of mutations and deletions in the SMARCB1 locus in chromosome
band 22q11.2 in pediatric rhabdoid tumors provided the first evidence for the
involvement of the SWI/SNF chromatin remodeling complex in cancer. Over the last
15 years, alterations in more than 20 members of the complex have been reported
in a variety of human tumors. These include germline mutations and copy number
a...
Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome
Tập 142C Số 3 - Trang 158-172 - 2006
AbstractThe term dual‐diagnosis refers to a person with mental retardation and a
psychiatric disorder. Most children with Down syndrome (DS) do not have a
psychiatric or neurobehavioral disorder. Current prevalence estimates of
neurobehavioral and psychiatric co‐morbidity in children with DS range from 18%
to 38%. We have found it useful to distinguish conditions with a pre‐pubertal
onset from tho...
Diagnostic evaluation of developmental delay/mental retardation: An overview
Tập 117C Số 1 - Trang 3-14 - 2003
AbstractMental retardation (MR) is one of the few clinically important disorders
for which the etiopathogenesis is still poorly understood. It is a condition of
great concern for public health and society. MR is currently defined as a
significant impairment of cognitive and adaptive functions, with onset before
age 18 years. It may become evident during infancy or early childhood as
developmental ...
The genetics of obsessive compulsive disorder: A review of the evidence
Tập 148C Số 2 - Trang 133-139 - 2008
AbstractObsessive compulsive disorder (OCD) is a common psychiatric disorder
that can have disabling effects on both adults and children. Twin, family,
segregation, and linkage studies have demonstrated that OCD is familial, that
the familiality is due in part to genetic factors and there are regions of the
genome which very likely harbor susceptibility loci for OCD. Over 60 candidate
gene studies...
Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC)
Tập 163 Số 3 - Trang 144-156 - 2013
AbstractVentricular trabeculation and compaction are two of the many essential
steps for generating a functionally competent ventricular wall. A significant
reduction in trabeculation is usually associated with ventricular compact zone
deficiencies (hypoplastic wall), which commonly leads to embryonic heart failure
and early embryonic lethality. In contrast, hypertrabeculation and lack of
ventricu...
Monitoring prenatal alcohol exposure
Tập 127C Số 1 - Trang 3-9 - 2004
AbstractAlcohol use during pregnancy is a leading, preventable cause of birth
defects and developmental disabilities in the United States, with fetal alcohol
syndrome (FAS) being one of the most severe outcomes. Current survey statistics
find that approximately one in eight pregnant women (500,000 per year) report
alcohol use, with approximately 80,000 reporting binge drinking. While annual
rates ...
Phenotypic Spectrum of Simpson–G olabi–B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
Tập 163 Số 2 - Trang 92-105 - 2013
AbstractSimpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple
congenital abnormality/intellectual disability syndrome characterized by pre‐
and post‐natal overgrowth, distinctive craniofacial features, macrocephaly,
variable congenital malformations, organomegaly, increased risk of tumor and
mild/moderate intellectual deficiency. In 1996, Glypican 3 (GPC3) was identified
as the major g...