Complete Hypogonadotropic Hypogonadism Associated with a Novel Inactivating Mutation of the Gonadotropin-Releasing Hormone Receptor

Releasing Hormone ◽

Inactivating Mutation

Partial Hypogonadotropic Hypogonadism Associated with the Leu266Arg and Gln106Arg Mutation of the Gonadotropin-Releasing Hormone Receptor

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem.2009.22.2.181 ◽

2009 ◽

Vol 22 (2) ◽

Cited By ~ 3

Author(s):

J.B. Quintos ◽

S. Krotz ◽

M.G. Vogiatzi ◽

M. Kralickova ◽

M.I. New

Keyword(s):

Hormone Receptor ◽

Releasing Hormone ◽

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism

Clinical Endocrinology ◽

10.1111/j.1365-2265.2012.04493.x ◽

2013 ◽

Vol 78 (2) ◽

pp. 316-317 ◽

Cited By ~ 16

Author(s):

Johanna Tommiska ◽

Niels Jørgensen ◽

Peter Christiansen ◽

Anders Juul ◽

Taneli Raivio

Keyword(s):

Hormone Receptor ◽

Late Onset ◽

Releasing Hormone ◽

Late Onset Hypogonadism ◽

Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism

Fertility and Sterility ◽

10.1016/s0015-0282(97)00400-7 ◽

1997 ◽

Vol 68 (6) ◽

pp. 1079-1085 ◽

Cited By ~ 14

Author(s):

Lawrence C Layman ◽

Douglas B Peak ◽

Jun Xie ◽

Sae H Sohn ◽

Richard H Reindollar ◽

...

Keyword(s):

Mutation Analysis ◽

Hormone Receptor ◽

Receptor Gene ◽

Idiopathic Hypogonadotropic Hypogonadism ◽

Releasing Hormone ◽

Hormone Receptor Gene

A New Compound Heterozygous Mutation of the Gonadotropin-Releasing Hormone Receptor (L314X, Q106R) in a Woman with Complete Hypogonadotropic Hypogonadism: Chronic Estrogen Administration Amplifies the Gonadotropin Defect

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.85.9.3002 ◽

2000 ◽

Vol 85 (9) ◽

pp. 3002-3008 ◽

Cited By ~ 21

Author(s):

M.-L. Kottler

Keyword(s):

Hormone Receptor ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Releasing Hormone ◽

Estrogen Administration

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene

Fertility and Sterility ◽

10.1016/s0015-0282(02)04667-8 ◽

2003 ◽

Vol 79 (2) ◽

pp. 442-444 ◽

Cited By ~ 20

Author(s):

Sławomir Wołczynski ◽

Piotr Laudanski ◽

Katarzyna Jarzabek ◽

Herve Mittre ◽

Jean-Pierre Lagarde ◽

...

Keyword(s):

Hormone Receptor ◽

Receptor Gene ◽

Releasing Hormone ◽

Hormone Receptor Gene

Two Novel Mutations in the Gonadotropin-Releasing Hormone Receptor Gene in Brazilian Patients with Hypogonadotropic Hypogonadism and Normal Olfaction

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.86.6.2680 ◽

2001 ◽

Vol 86 (6) ◽

pp. 2680-2686 ◽

Cited By ~ 25

Author(s):

E. M. F. Costa

Keyword(s):

Hormone Receptor ◽

Receptor Gene ◽

Novel Mutations ◽

Releasing Hormone ◽

Hormone Receptor Gene

The Fertile Eunuch Variant of Idiopathic Hypogonadotropic Hypogonadism: Spontaneous Reversal Associated with a Homozygous Mutation in the Gonadotropin-Releasing Hormone Receptor

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.86.6.2470 ◽

2001 ◽

Vol 86 (6) ◽

pp. 2470-2475 ◽

Cited By ~ 30

Author(s):

N. Pitteloud

Keyword(s):

Hormone Receptor ◽

Homozygous Mutation ◽

Idiopathic Hypogonadotropic Hypogonadism ◽

Releasing Hormone ◽

Spontaneous Reversal ◽

A novel mutation in gonadotropin releasing hormone receptor causing delay in puberty in a sporadic case of isolated hypogonadotropic hypogonadism

Endocrine Abstracts ◽

10.1530/endoabs.32.p852 ◽

2013 ◽

Author(s):

Misbah Riaz ◽

Qaiser Mansoor ◽

Maleeha Akram ◽

Madiha Shahbaz ◽

Shaista Aslam ◽

...

Keyword(s):

Hormone Receptor ◽

Novel Mutation ◽

Sporadic Case ◽

Releasing Hormone ◽

Receptor-Misrouting: An Unexpectedly Prevalent and Rescuable Etiology in Gonadotropin-Releasing Hormone Receptor-Mediated Hypogonadotropic Hypogonadism

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2002-020961 ◽

2002 ◽

Vol 87 (10) ◽

pp. 4825-4828 ◽

Cited By ~ 78

Author(s):

Alfredo Leaños-Miranda ◽

Jo Ann Janovick ◽

P. Michael Conn

Keyword(s):

Hormone Receptor ◽

Releasing Hormone ◽

Mutation Ala171Thr Stabilizes the Gonadotropin-Releasing Hormone Receptor in Its Inactive Conformation, Causing Familial Hypogonadotropic Hypogonadism

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2002-020005 ◽

2003 ◽

Vol 88 (4) ◽

pp. 1873-1879 ◽

Cited By ~ 32

Author(s):

Beate Karges ◽

Wolfram Karges ◽

Manuele Mine ◽

Leopold Ludwig ◽

Ronald Kühne ◽

...

Keyword(s):

Hormone Receptor ◽

Inactive Conformation ◽

Releasing Hormone ◽