Literature DB >> 21292259

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

Kirsi Vaaralahti1, Karoliina Wehkalampi, Johanna Tommiska, Eeva-Maria Laitinen, Leo Dunkel, Taneli Raivio.   

Abstract

Variation in FGFR1, GNRHR, TAC3, and TACR3 was evaluated in 146 Finnish subjects with constitutional delay of growth and puberty. Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not likely to underlie common constitutional delay of growth and puberty.
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Substances:

Year:  2011        PMID: 21292259     DOI: 10.1016/j.fertnstert.2010.12.059

Source DB:  PubMed          Journal:  Fertil Steril        ISSN: 0015-0282            Impact factor:   7.329


  18 in total

Review 1.  Genetics of pubertal delay.

Authors:  Tansit Saengkaew; Sasha R Howard
Journal:  Clin Endocrinol (Oxf)       Date:  2021-10-13       Impact factor: 3.523

Review 2.  Review of human genetic and clinical studies directly relevant to GnRH signalling.

Authors:  Stephanie B Seminara; A Kemal Topaloglu
Journal:  J Neuroendocrinol       Date:  2021-12-31       Impact factor: 3.870

3.  Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.

Authors:  Cintia Tusset; Sekoni D Noel; Ericka B Trarbach; Letícia F G Silveira; Alexander A L Jorge; Vinicius N Brito; Priscila Cukier; Stephanie B Seminara; Berenice B de Mendonça; Ursula B Kaiser; Ana Claudia Latronico
Journal:  Arq Bras Endocrinol Metabol       Date:  2012-12

4.  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

Review 5.  Genetics of pubertal timing.

Authors:  Jia Zhu; Temitope O Kusa; Yee-Ming Chan
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

6.  A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

Authors:  Jia Zhu; Ruth E-Y Choa; Michael H Guo; Lacey Plummer; Cassandra Buck; Mark R Palmert; Joel N Hirschhorn; Stephanie B Seminara; Yee-Ming Chan
Journal:  J Clin Endocrinol Metab       Date:  2015-01-30       Impact factor: 5.958

7.  Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

Authors:  Eeva-Maria Laitinen; Johanna Tommiska; Timo Sane; Kirsi Vaaralahti; Jorma Toppari; Taneli Raivio
Journal:  PLoS One       Date:  2012-06-19       Impact factor: 3.240

8.  Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.

Authors:  Diana L Cousminer; Jaakko T Leinonen; Antti-Pekka Sarin; Himanshu Chheda; Ida Surakka; Karoliina Wehkalampi; Pekka Ellonen; Samuli Ripatti; Leo Dunkel; Aarno Palotie; Elisabeth Widén
Journal:  PLoS One       Date:  2015-06-01       Impact factor: 3.240

9.  Reversal of idiopathic hypogonadotropic hypogonadism: a cohort study in Chinese patients.

Authors:  Jiang-Feng Mao; Hong-Li Xu; Jin Duan; Rong-Rong Chen; Li Li; Bin Li; Min Nie; Le Min; Hong-Bing Zhang; Xue-Yan Wu
Journal:  Asian J Androl       Date:  2015 May-Jun       Impact factor: 3.285

10.  Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty.

Authors:  Byung Ho Kang; So Youn Kim; Mun Suk Park; Kyung Lim Yoon; Kye Shik Shim
Journal:  Ann Pediatr Endocrinol Metab       Date:  2013-06-30
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.