American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SCOPUS (1977-1996,1999-2023)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 syndromesThe 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...
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Risk of tumorigenesis in overgrowth syndromes: A comprehensive reviewAbstract Overgrowth 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... ... hiện toàn bộ
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Embryonic cardiac chamber maturation: Trabeculation, conduction, and cardiomyocyte proliferationAbstract Congenital heart diseases are some of the most common human birth defects. Though some congenital heart defects can be surgically corrected, treatment options for other congenital heart diseases are very limited. In many congenital heart diseases, genetic defects lead to impaired embryonic heart development or growth. One of the key ...
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Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneityAbstract Isovaleric 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 ... ... hiện toàn bộ
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SWI/SNF chromatin remodeling complexes and cancerThe 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...
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Neurobehavioral disorders in children, adolescents, and young adults with Down syndromeAbstract The 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 w... ... hiện toàn bộ
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Diagnostic evaluation of developmental delay/mental retardation: An overviewAbstract Mental 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 ... ... hiện toàn bộ
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The genetics of obsessive compulsive disorder: A review of the evidenceAbstract Obsessive 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 OC... ... hiện toàn bộ
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Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC)Abstract Ventricular 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 lethal...
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Monitoring prenatal alcohol exposureAbstract Alcohol 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 bi... ... hiện toàn bộ
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