408 related articles for article (PubMed ID: 11397871)
21. R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism.
Maione L; Albarel F; Bouchard P; Gallant M; Flanagan CA; Bobe R; Cohen-Tannoudji J; Pivonello R; Colao A; Brue T; Millar RP; Lombes M; Young J; Guiochon-Mantel A; Bouligand J
PLoS One; 2013; 8(7):e69616. PubMed ID: 23936060
[TBL] [Abstract][Full Text] [Related]
22. Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout".
Silveira LF; Stewart PM; Thomas M; Clark DA; Bouloux PM; MacColl GS
J Clin Endocrinol Metab; 2002 Jun; 87(6):2973-7. PubMed ID: 12050282
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 16322390
[TBL] [Abstract][Full Text] [Related]
24. [Normosmic idiopathic hypogonadotropic hypogonadism with GnRH receptor mutation(review)].
Tamaya T
Nihon Rinsho; 2002 Feb; 60(2):319-24. PubMed ID: 11857920
[TBL] [Abstract][Full Text] [Related]
25. Hypogonadotropic hypogonadism due to GnRH receptor mutation in a sibling.
Fichna P; Fichna M; Zurawek M; Nowak J
Endokrynol Pol; 2011; 62(3):264-7. PubMed ID: 21717411
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 16868131
[TBL] [Abstract][Full Text] [Related]
27. Molecular genetic analysis of normosmic hypogonadotropic hypogonadism in a Turkish population: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene.
Topaloglu AK; Lu ZL; Farooqi IS; Mungan NO; Yuksel B; O'Rahilly S; Millar RP
Neuroendocrinology; 2006; 84(5):301-8. PubMed ID: 17179725
[TBL] [Abstract][Full Text] [Related]
28. A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
Söderlund D; Canto P; de la Chesnaye E; Ulloa-Aguirre A; Méndez JP
Clin Endocrinol (Oxf); 2001 Apr; 54(4):493-8. PubMed ID: 11318785
[TBL] [Abstract][Full Text] [Related]
29. Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function.
Bédécarrats GY; Linher KD; Janovick JA; Beranova M; Kada F; Seminara SB; Michael Conn P; Kaiser UB
Mol Cell Endocrinol; 2003 Jul; 205(1-2):51-64. PubMed ID: 12890567
[TBL] [Abstract][Full Text] [Related]
30. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
Abreu AP; Trarbach EB; de Castro M; Frade Costa EM; Versiani B; Matias Baptista MT; Garmes HM; Mendonca BB; Latronico AC
J Clin Endocrinol Metab; 2008 Oct; 93(10):4113-8. PubMed ID: 18682503
[TBL] [Abstract][Full Text] [Related]
31. Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure.
Stewart MD; Deng JM; Stewart CA; Mullen RD; Wang Y; Lopez S; Serna MK; Huang CC; Janovick JA; Pask AJ; Schwartz RJ; Conn PM; Behringer RR
Mol Endocrinol; 2012 Nov; 26(11):1847-56. PubMed ID: 22918878
[TBL] [Abstract][Full Text] [Related]
32. Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
Karges B; Karges W; Mine M; Ludwig L; Kühne R; Milgrom E; de Roux N
J Clin Endocrinol Metab; 2003 Apr; 88(4):1873-9. PubMed ID: 12679486
[TBL] [Abstract][Full Text] [Related]
33. Inherited disorders of GnRH and gonadotropin receptors.
de Roux N; Milgrom E
Mol Cell Endocrinol; 2001 Jun; 179(1-2):83-7. PubMed ID: 11420132
[TBL] [Abstract][Full Text] [Related]
34. A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.
Pask AJ; Kanasaki H; Kaiser UB; Conn PM; Janovick JA; Stockton DW; Hess DL; Justice MJ; Behringer RR
Mol Endocrinol; 2005 Apr; 19(4):972-81. PubMed ID: 15625238
[TBL] [Abstract][Full Text] [Related]
35. The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
Pitteloud N; Boepple PA; DeCruz S; Valkenburgh SB; Crowley WF; Hayes FJ
J Clin Endocrinol Metab; 2001 Jun; 86(6):2470-5. PubMed ID: 11397842
[TBL] [Abstract][Full Text] [Related]
36. Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function.
Bédécarrats GY; Kaiser UB
Semin Reprod Med; 2007 Sep; 25(5):368-78. PubMed ID: 17710733
[TBL] [Abstract][Full Text] [Related]
37. GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency.
de Roux N
Best Pract Res Clin Endocrinol Metab; 2006 Dec; 20(4):515-28. PubMed ID: 17161329
[TBL] [Abstract][Full Text] [Related]
38. TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.
Young J; Bouligand J; Francou B; Raffin-Sanson ML; Gaillez S; Jeanpierre M; Grynberg M; Kamenicky P; Chanson P; Brailly-Tabard S; Guiochon-Mantel A
J Clin Endocrinol Metab; 2010 May; 95(5):2287-95. PubMed ID: 20194706
[TBL] [Abstract][Full Text] [Related]
39. In vitro coexpression and pharmacological rescue of mutant gonadotropin-releasing hormone receptors causing hypogonadotropic hypogonadism in humans expressing compound heterozygous alleles.
Leaños-Miranda A; Ulloa-Aguirre A; Janovick JA; Conn PM
J Clin Endocrinol Metab; 2005 May; 90(5):3001-8. PubMed ID: 15728205
[TBL] [Abstract][Full Text] [Related]
40. Inherited disorders of the gonadotropin hormones.
Jameson JL
Mol Cell Endocrinol; 1996 Dec; 125(1-2):143-9. PubMed ID: 9027352
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
