American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

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Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 142C Số 2 - Trang 95-103 - 2006
Jerry Vockley, Regina Ensenauer
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... hiện toàn bộ
Advances in autism neuroimaging research for the clinician and geneticist
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 142C Số 1 - Trang 33-39 - 2006
Janet E. Lainhart
AbstractThis 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 gray and white matter volumes are ... hiện toàn bộ
The genetics of obsessive compulsive disorder: A review of the evidence
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 148C Số 2 - Trang 133-139 - 2008
David L. Pauls
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... hiện toàn bộ
SWI/SNF chromatin remodeling complexes and cancer
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 166 Số 3 - Trang 350-366 - 2014
Jaclyn A. Biegel, Tracy Busse, Bernard E. Weissman
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... hiện toàn bộ
Monitoring prenatal alcohol exposure
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 127C Số 1 - Trang 3-9 - 2004
R. Louise Floyd, Jasjeet S. Sidhu
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 ... hiện toàn bộ
Molecular mechanism of ventricular trabeculation/compaction and the pathogenesis of the left ventricular noncompaction cardiomyopathy (LVNC)
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 163 Số 3 - Trang 144-156 - 2013
Wei Zhang, Hanying Chen, Xiuxia Qu, Ching-Pin Chang, Weinian Shou
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... hiện toàn bộ
Diagnostic evaluation of developmental delay/mental retardation: An overview
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 117C Số 1 - Trang 3-14 - 2003
Agatino Battaglia, John C. Carey
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 ... hiện toàn bộ
The 2017 international classification of the Ehlers–Danlos syndromes
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 175 Số 1 - Trang 8-26 - 2017
Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Bo Berglund, James H. Black, Lara Bloom, Jessica Bowen, Naveena Singh, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Glenda Sobey, Tim Van Damme, Patricia Van der Niepen, Caroline van Mourik, Nigel Wheeldon, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle
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... hiện toàn bộ
Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 163 Số 2 - Trang 92-105 - 2013
Edouard Cottereau, Isabelle Mortemousque, Marie‐Pierre Moizard, Lydie Bürglen, Didier Lacombe, Brigitte Gilbert‐Dussardier, Sabine Sigaudy, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Jeanne Amiel, R. C. Robertson, Fabiana Ramos, Éric Bieth, Sylvie Odent, Bénédicte Demeer, M Mathieu, Dominique Gaillard, Lionel Van Maldergem, Geneviève Baujat, Isabelle Maystadt, Delphine Héron, Alain Verloès, Nicole Philip, MARIE‐FRANÇOISE FROUTÉ, Lucile Pinson, Patricia Blanchet, Pierre Sarda, Marjolaine Willems, Adeline Jacquinet, Ilham Ratbi, Jenneke van den Ende, Maciej Lis, Alice Goldenberg, Dominique Bonneau, Sylvie Rossignol, Annick Toutain
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... hiện toàn bộ
Molecular Mechanisms of Childhood Overgrowth
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics - Tập 163 Số 2 - Trang 71-75 - 2013
Katrina Tatton–Brown, Rosanna Weksberg
AbstractThis issue of the Seminar Series C is dedicated to the molecular mechanisms of childhood overgrowth and celebrates the last decade of unprecedented gene discovery. Constitutional gene disorders, somatic gene disorders and imprinting dysregulation are each considered. The constitutional overgrowth genes discussed include NSD1, EZH2, GPC3, DIS3L2, and PTEN whilst the somatic overgrowth genes... hiện toàn bộ
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