Literature DB >> 22788855

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

Johanna Tommiska, Niels Jørgensen, Peter Christiansen, Anders Juul, Taneli Raivio.   

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Year:  2013        PMID： 22788855     DOI： 10.1111/j.1365-2265.2012.04493.x

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  5 in total

Review 1.  Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment.

Authors:  Ulrich Boehm; Pierre-Marc Bouloux; Mehul T Dattani; Nicolas de Roux; Catherine Dodé; Leo Dunkel; Andrew A Dwyer; Paolo Giacobini; Jean-Pierre Hardelin; Anders Juul; Mohamad Maghnie; Nelly Pitteloud; Vincent Prevot; Taneli Raivio; Manuel Tena-Sempere; Richard Quinton; Jacques Young
Journal:  Nat Rev Endocrinol       Date:  2015-07-21       Impact factor: 43.330

2.  Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Authors:  Valerie F Sidhoum; Yee-Ming Chan; Margaret F Lippincott; Ravikumar Balasubramanian; Richard Quinton; Lacey Plummer; Andrew Dwyer; Nelly Pitteloud; Frances J Hayes; Janet E Hall; Kathryn A Martin; Paul A Boepple; Stephanie B Seminara
Journal:  J Clin Endocrinol Metab       Date:  2013-01-01       Impact factor: 5.958

3.  Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

Authors:  Daiane Beneduzzi; Ericka B Trarbach; Le Min; Alexander A L Jorge; Heraldo M Garmes; Alessandra Covallero Renk; Marta Fichna; Piotr Fichna; Karina A Arantes; Elaine M F Costa; Anna Zhang; Oluwaseun Adeola; Junping Wen; Rona S Carroll; Berenice B Mendonça; Ursula B Kaiser; Ana Claudia Latronico; Letícia F G Silveira
Journal:  Fertil Steril       Date:  2014-07-10       Impact factor: 7.329

4.  Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort.

Authors:  Andrew Dwyer; Taneli Raivio
Journal:  Asian J Androl       Date:  2015 May-Jun       Impact factor: 3.285

5.  GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.

Authors:  Johanna Hietamäki; Matti Hero; Elina Holopainen; Johanna Känsäkoski; Kirsi Vaaralahti; Anna-Pauliina Iivonen; Päivi J Miettinen; Taneli Raivio
Journal:  PLoS One       Date:  2017-11-28       Impact factor: 3.240
  5 in total

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