Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene-Reference-Cited by-同舟云学术

Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene

Published:2014-04 Issue:2 Volume:13 Page:280-285
ISSN:1109-3099
Container-title:Hormones
language:en
Short-container-title:Hormones

Author:

Entrala-Bernal Carmen,Montes-Castillo Cristina,Alvarez-Cubero Maria Jesus,Gutiérrez-Alcántara Carmen,Fernandez-Rosado Francisco,Martinez-Espín Esther,Sánchez-Malo Carolina,Santiago-Fernández Piedad

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/article/10.1007/BF03401342/fulltext.html

Reference25 articles.

1. Trarbach EB, Baptista MTM, Garnies HM, Hackel C, 2005 Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients. J Endocrinol 187: 361–368.

2. Quaynor SD, Kim HG, Cappello EM, et al, 2011 The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertil Steril 96: 1424–1430.

3. https://doi.org/ghr.nlm.nih.gov/condition/kallmann-syndrome .

4. Laitinen E, Vaaralahti K, Tommiska J, et al, 2011 Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. 6: doi: 10.1186/1750-1172-6-41.

5. Yu HT, Lee CL, Huang HY, Soong YK, 2012 Successful pregnancy in a woman with Kallmann’s syndrome using human menopausal gonadotropin followed by low-dose human chorionic gonadotropin in the mid-to-late follicular phase. Taiwan J Obstet Gynecol 51: 300–302.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Azoospermia: Etiology, Diagnosis and Management;Journal of Endocrinology and Reproduction;2024-08-26

2. Application of auxological methods, including dental age estimation, in the assessment of delayed puberty in girls in gynecological practice;Ginekologia Polska;2019-11-28

3. Sex chromosomes-linked single-gene disorders involved in human infertility;European Journal of Medical Genetics;2019-09

4. Genetics of Male Infertility;Current Urology Reports;2016-08-09