Delineation of a region responsible for panhypopituitarism in 20p11.2
Author:
Affiliation:
1. Service de Génétique Médicale; Hôpital de l'Archet II, CHU Nice; Nice Cedex 3; France
2. Service de Pédiatrie; Hôpital de l'Archet II, CHU Nice; Nice Cedex 3; France
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35921/fullpdf
Reference50 articles.
1. Identification of known and novel pancreas genes expressed downstream of Nkx2.2 during development;Anderson;BMC Dev Biol,2009
2. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome;Basel-Vanagaite;Am J Hum Genet,2009
3. Pituitary somatostatin receptor signalling;Ben-Shlomo;Trends Endocrinol Metabolism,2010
4. The CST3 B haplotype is associated with fronto temporal lobar degeneration;Benussi;Europ J Neurol,2010
5. Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signalling;Briscoe;Nature,1999
Cited by 16 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. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements;European Journal of Human Genetics;2024-04-11
2. Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion;Case Reports in Endocrinology;2023-06-26
3. Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review;Journal of Neuroendocrinology;2022-12-10
4. Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management;Journal of Pediatric Endocrinology and Metabolism;2021-09-21
5. Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects;The Journal of Clinical Endocrinology & Metabolism;2021-05-17
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