Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome

Published:2004-12-08 Issue:3 Volume:13 Page:278-282
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Petit François M,Gajdos Vincent,Parisot Frédéric,Capel Liliane,Aboura Azzedine,Lachaux Alain,Tachdjian Gérard,Poüs Christian,Labrune Philippe

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201342.pdf

Reference27 articles.

1. Engel E : A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980; 6: 137–143.

2. Engel E, DeLozier-Blanchet CD : Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection. Am J Med Genet 1991; 40: 432–439.

3. Kotzot D : Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999; 82: 265–274.

4. Hansen WF, Bernard LE, Langlois S et al: Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 1997; 17: 443–450.

5. Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA : Maternal uniparental heterodisomy for chromosome 2: detection through ‘atypical’ maternal AFP/hCG levels, with an update on previous case. Prenat Diagn 2001; 21: 813–817.

Cited by 34 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. Novel LOXL3 -associated stickler syndrome-like phenotype: a case report;Ophthalmic Genetics;2024-07-03

2. Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142: A Case Report and Review of the UPD2 Literature;Global Medical Genetics;2024-01

3. Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I;Journal of Clinical Laboratory Analysis;2022-05-09

4. Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler–Najjar syndrome type I and long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency;American Journal of Medical Genetics Part A;2022-02-24

5. Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis;Genetic Disorders and the Fetus;2021-04-20

同舟云学术

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