Earliest ultrasound findings and description of splicing mutations in Meckel–Gruber syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Earliest ultrasound findings and description of splicing mutations in Meckel–Gruber syndrome

Published:2012-06-15 Issue:4 Volume:286 Page:917-921
ISSN:0932-0067
Container-title:Archives of Gynecology and Obstetrics
language:en
Short-container-title:Arch Gynecol Obstet

Author:

Eckmann-Scholz Christel,Jonat Walter,Zerres Klaus,Ortiz-Brüchle Nadine

Publisher

Springer Science and Business Media LLC

Subject

Obstetrics and Gynecology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00404-012-2411-6.pdf

Reference18 articles.

1. Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S et al (2007) Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 81(1):170–179

2. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S et al (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80(1):186–194

3. Braithwaite JM, Economides DL (1995) First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low-risk case. Prenat Diagn 15(12):1168–1170

4. Celentano C, Prefumo F, Liberati M, Gallo G, Di Nisio Q, Rotmensch S (2006) Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI. J Assist Reprod Genet 23(6):281–283

5. Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, Didier F et al (2006) Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study. Ultrasound Obstet Gynecol 28(7):911–917

Cited by 11 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. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance;Fetal and Pediatric Pathology;2021-11-25

2. Prenatal Diagnosis of Neural Tube Defects;Genetic Disorders and the Fetus;2021-04-20

3. Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome;Journal of Cellular and Molecular Medicine;2019-12-15

4. Síndrome de Meckel-Gruber en un lactante menor con sobrevida prolongada. Reporte de Caso;Acta Pediátrica de México;2018-01-18

5. Meckel Gruber syndrome: A case report with review of literature;Electronic Journal of General Medicine;2017-12-12

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