Literature DB >> 9425890

Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

L C Layman, D P Cohen, M Jin, J Xie, Z Li, R H Reindollar, S Bolbolan, D P Bick, R R Sherins, L W Duck, L C Musgrove, J C Sellers, J D Neill.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9425890     DOI： 10.1038/ng0198-14

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  51 in total

Review 1.  GnRH signaling, the gonadotrope and endocrine control of fertility.

Authors:  Stuart P Bliss; Amy M Navratil; Jianjun Xie; Mark S Roberson
Journal:  Front Neuroendocrinol       Date:  2010-05-06       Impact factor: 8.606

2.  Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.

Authors:  Hilana M Lewkowitz-Shpuntoff; Virginia A Hughes; Lacey Plummer; Margaret G Au; Richard L Doty; Stephanie B Seminara; Yee-Ming Chan; Nelly Pitteloud; William F Crowley; Ravikumar Balasubramanian
Journal:  J Clin Endocrinol Metab       Date:  2011-11-09       Impact factor: 5.958

3.  An ancient founder mutation in PROKR2 impairs human reproduction.

Authors:  Magdalena Avbelj Stefanija; Marc Jeanpierre; Gerasimos P Sykiotis; Jacques Young; Richard Quinton; Ana Paula Abreu; Lacey Plummer; Margaret G Au; Ravikumar Balasubramanian; Andrew A Dwyer; Jose C Florez; Timothy Cheetham; Simon H Pearce; Radhika Purushothaman; Albert Schinzel; Michel Pugeat; Elka E Jacobson-Dickman; Svetlana Ten; Ana Claudia Latronico; James F Gusella; Catherine Dode; William F Crowley; Nelly Pitteloud
Journal:  Hum Mol Genet       Date:  2012-07-05       Impact factor: 6.150

4.  GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Authors:  Yee-Ming Chan; Sarabeth Broder-Fingert; Sophia Paraschos; Risto Lapatto; Margaret Au; Virginia Hughes; Suzy D C Bianco; Le Min; Lacey Plummer; Felecia Cerrato; Adelaide De Guillebon; I-Hsuan Wu; Fazal Wahab; Andrew Dwyer; Susan Kirsch; Richard Quinton; Timothy Cheetham; Metin Ozata; Svetlana Ten; Jean-Pierre Chanoine; Nelly Pitteloud; Kathryn A Martin; Raphael Schiffmann; Hetty J Van der Kamp; Shahla Nader; Janet E Hall; Ursula B Kaiser; Stephanie B Seminara
Journal:  J Clin Endocrinol Metab       Date:  2011-08-31       Impact factor: 5.958

Review 5.  G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Authors:  Sekoni D Noel; Ursula B Kaiser
Journal:  Mol Cell Endocrinol       Date:  2011-06-29       Impact factor: 4.102

Review 6.  Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature.

Authors:  Shashank Shekhar
Journal:  BMJ Case Rep       Date:  2012-12-10

7.  Clinical genetic testing for Kallmann syndrome.

Authors:  Lawrence C Layman
Journal:  J Clin Endocrinol Metab       Date:  2013-05       Impact factor: 5.958

Review 8.  The genetic basis of female reproductive disorders: etiology and clinical testing.

Authors:  Lawrence C Layman
Journal:  Mol Cell Endocrinol       Date:  2013-03-14       Impact factor: 4.102

Review 9.  The biology of infertility: research advances and clinical challenges.

Authors:  Martin M Matzuk; Dolores J Lamb
Journal:  Nat Med       Date:  2008-11-06       Impact factor: 53.440

Review 10.  Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

Authors:  M I Stamou; K H Cox; William F Crowley
Journal:  Endocr Rev       Date:  2016-02       Impact factor: 19.871
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.