Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33489/fullpdf
Reference38 articles.
1. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1;Abecasis;Am J Hum Genet,2004
2. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata;Bams-Mengerink;Neurology,2006
3. “Compensatory” uniparental disomy of chromosome 21 in two cases;Bartsch;J Med Genet,1994
4. Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3;Benko;Neurology,2008
5. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome;Braverman;Nat Genet,1999
Cited by 24 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in theGNPATgene;2024-06-16
2. Plasmalogens inhibit neuroinflammation and promote cognitive function;Brain Research Bulletin;2023-01
3. The Regulation of Growth in Developing, Homeostatic, and Regenerating Tetrapod Limbs: A Minireview;Frontiers in Cell and Developmental Biology;2022-01-03
4. Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome;Frontiers in Pediatrics;2021-03-19
5. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2020-04
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3