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Items: 1 to 20 of 89

1.

Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism.

Beneduzzi D, Trarbach EB, Latronico AC, Mendonca BB, Silveira LF.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):540-4.

2.

Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism.

Fathi AK, Hu S, Fu X, Huang S, Liang Y, Ning Q, Luo X.

J Pediatr Endocrinol Metab. 2012;25(7-8):659-68.

PMID:
23155690
3.

The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism.

Bhagavath B, Ozata M, Ozdemir IC, Bolu E, Bick DP, Sherins RJ, Layman LC.

Fertil Steril. 2005 Oct;84(4):951-7.

PMID:
16213849
4.

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.

Beranova M, Oliveira LM, Bédécarrats GY, Schipani E, Vallejo M, Ammini AC, Quintos JB, Hall JE, Martin KA, Hayes FJ, Pitteloud N, Kaiser UB, Crowley WF Jr, Seminara SB.

J Clin Endocrinol Metab. 2001 Apr;86(4):1580-8.

PMID:
11297587
5.

Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism.

Lanfranco F, Gromoll J, von Eckardstein S, Herding EM, Nieschlag E, Simoni M.

Eur J Endocrinol. 2005 Dec;153(6):845-52.

6.

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.

Gürbüz F, Kotan LD, Mengen E, Şıklar Z, Berberoğlu M, Dökmetaş S, Kılıçlı MF, Güven A, Kirel B, Saka N, Poyrazoğlu Ş, Cesur Y, Doğan M, Özen S, Özbek MN, Demirbilek H, Kekil MB, Temiz F, Önenli Mungan N, Yüksel B, Topaloğlu AK.

J Clin Res Pediatr Endocrinol. 2012 Sep;4(3):121-6. doi: 10.4274/jcrpe.725. Epub 2012 Jul 5.

7.

[Normosmic idiopathic hypogonadotropic hypogonadism with GnRH receptor mutation(review)].

Tamaya T.

Nihon Rinsho. 2002 Feb;60(2):319-24. Review. Japanese.

PMID:
11857920
8.

Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction.

Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC.

J Clin Endocrinol Metab. 2001 Jun;86(6):2680-6.

PMID:
11397871
9.

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.

Cerrato F, Shagoury J, Kralickova M, Dwyer A, Falardeau J, Ozata M, Van Vliet G, Bouloux P, Hall JE, Hayes FJ, Pitteloud N, Martin KA, Welt C, Seminara SB.

Eur J Endocrinol. 2006 Nov;155 Suppl 1:S3-S10.

10.
11.

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

Beneduzzi D, Trarbach EB, Min L, Jorge AA, Garmes HM, Renk AC, Fichna M, Fichna P, Arantes KA, Costa EM, Zhang A, Adeola O, Wen J, Carroll RS, Mendonça BB, Kaiser UB, Latronico AC, Silveira LF.

Fertil Steril. 2014 Sep;102(3):838-846.e2. doi: 10.1016/j.fertnstert.2014.05.044. Epub 2014 Jul 10.

12.

Two novel GnRHR gene mutations in two siblings with hypogonadotropic hypogonadism.

Antelli A, Baldazzi L, Balsamo A, Pirazzoli P, Nicoletti A, Gennari M, Cicognani A.

Eur J Endocrinol. 2006 Aug;155(2):201-5.

14.

Genotype and phenotype of patients with gonadotropin-releasing hormone receptor mutations.

Kim HG, Pedersen-White J, Bhagavath B, Layman LC.

Front Horm Res. 2010;39:94-110. doi: 10.1159/000312696. Epub 2010 Apr 8. Review.

15.

The gonadotropin-releasing hormone (GnRH)-1 gene, the GnRH receptor gene, and their promoters in patients with idiopathic hypogonadotropic hypogonadism with or without resistance to GnRH action.

Vagenakis GA, Sgourou A, Papachatzopoulou A, Kourounis G, Papavassiliou AG, Georgopoulos NA.

Fertil Steril. 2005 Dec;84(6):1762-5.

PMID:
16359986
16.

Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.

Tello JA, Newton CL, Bouligand J, Guiochon-Mantel A, Millar RP, Young J.

PLoS One. 2012;7(6):e38456. doi: 10.1371/journal.pone.0038456. Epub 2012 Jun 5.

17.

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

Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T.

PLoS One. 2012;7(6):e39450. doi: 10.1371/journal.pone.0039450. Epub 2012 Jun 19.

18.

Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals.

Layman LC, McDonough PG, Cohen DP, Maddox M, Tho SP, Reindollar RH.

Fertil Steril. 2001 Jun;75(6):1148-55.

PMID:
11384641
19.

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.

Bo-Abbas Y, Acierno JS Jr, Shagoury JK, Crowley WF Jr, Seminara SB.

J Clin Endocrinol Metab. 2003 Jun;88(6):2730-7.

PMID:
12788881
20.

Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.

Méndez JP, Zenteno JC, Coronel A, Soriano-Ursúa MA, Valencia-Villalvazo EY, Soderlund D, Coral-Vázquez RM, Canto P.

Endocr Res. 2015;40(3):166-71. doi: 10.3109/07435800.2014.982327. Epub 2014 Dec 22.

PMID:
25531638
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