American Journal of Medical Genetics, Part A
SCOPUS (1996-1999,2001,2003-2023)SCIE-ISI
1552-4833
1552-4825
Mỹ
Cơ quản chủ quản: Wiley-Liss Inc. , WILEY
Lĩnh vực:
Genetics (clinical)Genetics
Các bài báo tiêu biểu
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessmentAbstract Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in t...
Tập 164 Số 6 - Trang 1470-1481 - 2014
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1 , RNASEH2A , RNASEH2B , RNASEH2C , SAMHD1 , ADAR or IFIH1 . We report on 374 patients fr...
Tập 167 Số 2 - Trang 296-312 - 2015
The hedgehog signaling networkAbstract In the hedgehog signaling network, mutations result in various phenotypes, including, among others, holoprosencephaly, nevoid basal cell carcinoma syndrome, Pallister‐Hall syndrome, Greig cephalopolysyndactyly, Rubinstein‐Taybi syndrome, isolated basal cell carcinoma, and medulloblastoma. Active Hedgehog ligand is double lipid modified with a C‐terminal cho... ... hiện toàn bộ
Tập 123A Số 1 - Trang 5-28 - 2003
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United StatesThe present and future live birth prevalence of Down syndrome (DS) is of practical importance for planning services and prioritizing research to support people living with the condition. Live birth prevalence is influenced by changes in prenatal screening technologies and policies. To predict the future impact of these changes, a model for estimating the live births...
Tập 167 Số 4 - Trang 756-767 - 2015
Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literatureAbstract Mycophenolate mofetil (MMF) (CellCept®) is an immunosuppressant drug that is teratogenic in rats and rabbits. Reports of malformations in 13 offspring of women exposed to MMF in pregnancy raise concern that MMF is also a human teratogen. We report an additional child with malformations following prenatal exposure to MMF and review the other 13 reports. We i... ... hiện toàn bộ
Tập 149A Số 6 - Trang 1241-1248 - 2009
Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information ServicesAbstract After maternal exposure to mycophenolate in pregnancy a high number of fetal losses and a specific pattern of birth defects consisting of microtia, cleft lip, and other anomalies have been reported. However, so far, prospective data on pregnancy outcome allowing quantitative risk assessment are missing. We report on 57 prospectively ascertained pregnancies ... ... hiện toàn bộ
Tập 158A Số 3 - Trang 588-596 - 2012
Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004Abstract Previous studies on the incidence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences o... ... hiện toàn bộ
Tập 149A Số 5 - Trang 960-964 - 2009
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and GreeceAbstract Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative m... ... hiện toàn bộ
Tập 155 Số 1 - Trang 58-68 - 2011
Down syndrome and comorbid autism‐spectrum disorder: Characterization using the aberrant behavior checklistAbstract To report on the cognitive and behavioral attributes of 61 children with Down syndrome (DS) and autistic‐spectrum disorder (ASD) according to DSM‐IV criteria; to determine the utility of the aberrant behavior checklist (ABC) to characterize these subjects for research purposes; and to test the hypothesis that subjects with DS + ASD could be distinguished fr... ... hiện toàn bộ
Tập 134A Số 4 - Trang 373-380 - 2005
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontismAbstract Amelogenesis imperfecta hypoplastic‐hypomaturation with taurodontism (AIHHT) is an autosomal dominant (AD) trait associated with enamel defects and enlarged pulp chambers. In this study, we mapped an AIHHT family to human chromosome 17 q21‐q22 (lod score 3.3) and identify a two basepair deletion (CT) at nucleotide 560 in DLX3 asso... ... hiện toàn bộ
Tập 133A Số 2 - Trang 138-141 - 2005