Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis

Published:2001 Issue:2 Volume:102 Page:146-148
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Valdes-Flores M.,Kofman-Alfaro S.H.,Jimenez-Vaca A.L.,Cuevas-Covarrubias S.A.

Publisher

Wiley

Subject

Genetics(clinical)

Reference23 articles.

1. Characterization of Point Mutations in Patients with X-linked Ichthyosis

2. Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

3. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification

4. Detection of Carriers for X-linked Ichthyosis by Southern Blot Analysis and Identification of One Family with a De Novo Mutation

Cited by 18 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. Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency;Molecular and Cellular Endocrinology;2016-12

2. Molecular Cytogenetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2015-11-23

3. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis;Journal of Dermatological Science;2015-09

4. Disorders of keratinization;McKee's Pathology of the Skin;2012

5. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses;Harper's Textbook of Pediatric Dermatology;2011-05-24

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