Expanding the Phenotype and Genotype of Female GnRH Deficiency-Reference-Cited by-同舟云学术

Expanding the Phenotype and Genotype of Female GnRH Deficiency

Published:2011-03-01 Issue:3 Volume:96 Page:E566-E576
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Shaw Natalie D.¹²,Seminara Stephanie B.¹,Welt Corrine K.¹,Au Margaret G.¹,Plummer Lacey¹,Hughes Virginia A.¹,Dwyer Andrew A.¹,Martin Kathryn A.¹,Quinton Richard³,Mericq Veronica⁴,Merino Paulina M.⁵,Gusella James F.⁶,Crowley William F.¹,Pitteloud Nelly¹,Hall Janet E.¹

Affiliation:

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

2. Division of Endocrinology (N.D.S.), Children's Hospital Boston, Boston, Massachusetts 02115;

3. Institute of Human Genetics (R.Q.), University of Newcastle-upon-Tyne, Newcastle NE2 4HH, United Kingdom;

4. Institute of Maternal and Child Research (V.M.) Faculty of Medicine, University of Chile, Santiago, Chile

5. Department of Pediatrics (P.M.M.), Faculty of Medicine, University of Chile, Santiago, Chile

6. Center for Human Genetic Research, Massachusetts General Hospital and Department of Genetics (J.F.G.), Harvard Medical School, Boston, Massachusetts 02114;

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/96/3/E566/9070025/jcemE566.pdf

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4. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.;Sato;J Clin Endocrinol Metab,2004

5. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).;Albuisson;Hum Mutat,2005

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