A new locus for Seckel syndrome on chromosome 18p11.31-q11.2-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2

Published:2001-10 Issue:10 Volume:9 Page:753-757
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Børglum Anders D,Balslev Thomas,Haagerup Annette,Birkebæk Niels,Binderup Helle,Kruse Torben A,Hertz Jens Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200701.pdf

Reference15 articles.

1. Seckel HPG . Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions Springfield, IL: Charles C Thomas 1960

2. Majewski F, Goecke T . Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome Am J Med Genet 1982 12: 7–21

3. Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M . Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1- q24 Am J Hum Genet 2000 67: 498–503

4. Kjær I, Hansen N, Becktor KB, Birkebæk N, Balslev T . Craniofacial morphology, dentition and skeletal maturity in four siblings with Seckel syndrome Cleft Palate 2001 in press

5. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL . Comprehensive human genetic maps: individual and sex-specific variation in recombination Am J Hum Genet 1998 63: 861–869

Cited by 52 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 Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy;Global Medical Genetics;2024-01

2. Expanding the phenotype of Seckel syndrome associated with biallelic loss‐of‐function variants in CEP63;American Journal of Medical Genetics Part A;2023-04-05

3. Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models;Journal of Human Genetics;2023-03-03

4. Central nervous system vasculopathy and Seckel syndrome: case illustration and systematic review;Child's Nervous System;2021-08-03

5. Protecting the Aging Genome;Trends in Cell Biology;2020-02

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