American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
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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 ...
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 163 Số 3 - Trang 157-168 - 2013
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
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 117C Số 1 - Trang 3-14 - 2003
Advances in autism neuroimaging research for the clinician and geneticistAbstract This review focuses on recent advances in the in vivo study of the whole brain in idiopathic autism. The brain is abnormally large in some but not all children with autism during post‐natal development. Age‐related changes in brain volume in autism are complex and appear to be abnormal from infancy into adulthood. Diffuse differences in total and regional g... ... hiện toàn bộ
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 142C Số 1 - Trang 33-39 - 2006
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...
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 163 Số 3 - Trang 144-156 - 2013
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
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 148C Số 2 - Trang 133-139 - 2008
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?Abstract Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N ‐acetyl‐α‐D ‐glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic features are relat... ... hiện toàn bộ
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 145C Số 3 - Trang 293-301 - 2007
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
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 127C Số 1 - Trang 3-9 - 2004
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
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 142C Số 3 - Trang 158-172 - 2006
Current dilemmas in Down syndrome clinical care: Celiac disease, thyroid disorders, and atlanto‐axial instabilityAbstract This study will discuss our current understanding of celiac disease (CD), thyroid disorders, and atlanto‐axial instability, three important areas of medical management in individuals with Down syndrome (DS). In this study, we highlight our current knowledge, as well as what we need to study in order to gather the necessary data to refine the empirically bas... ... hiện toàn bộ
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 142C Số 3 - Trang 141-148 - 2006
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...
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 175 Số 1 - Trang 8-26 - 2017
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