Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

Author:

Costa-Barbosa Flavia Amanda1,Balasubramanian Ravikumar1,Keefe Kimberly W.1,Shaw Natalie D.1,Al-Tassan Nada2,Plummer Lacey1,Dwyer Andrew A.3,Buck Cassandra L.1,Choi Jin-Ho1,Seminara Stephanie B.1,Quinton Richard4,Monies Dorota2,Meyer Brian2,Hall Janet E.1,Pitteloud Nelly3,Crowley William F.1

Affiliation:

1. Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of Medicine (F.A.C.-B., R.B., K.W.K., N.D.S., L.P., C.L.B., J.-H.C., S.B.S., J.E.H., W.F.C.), Massachusetts General Hospital, Boston, Massachusetts 02114;

2. Department of Genetics (N.A.-T., D.M., B.M.), King Faisal Speciality Hospital and Research Centre, Riyadh 11211, Saudi Arabia;

3. Endocrine, Diabetes, and Metabolism Service (A.A.D., N.P.), Centre Hospitalier, Universitaire Vaudois, 1011 Lausanne, Switzerland;

4. Royal Victoria Infirmary (R.Q.), Newcastle-upon Tyne NE1 4LP, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference45 articles.

1. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations;Seminara;Endocr Rev,1998

2. Induction of puberty in men by long-term pulsatile administration of low-dose gonadotropin-releasing hormone;Hoffman;N Engl J Med,1982

3. The migration of luteinizing hormone-releasing hormone (LHRH) neurons from the medial olfactory placode into the medial basal forebrain;Schwanzel-Fukuda;Experientia,1990

4. Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons;Balasubramanian;Neuroendocrinology,2010

5. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome;Kim;Am J Hum Genet,2008

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