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Results: 1 to 20 of 93

1.

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Francou B, Bouligand J, Voican A, Amazit L, Trabado S, Fagart J, Meduri G, Brailly-Tabard S, Chanson P, Lecomte P, Guiochon-Mantel A, Young J.

PLoS One. 2011;6(10):e25614. doi: 10.1371/journal.pone.0025614. Epub 2011 Oct 21.

PMID:
22031817
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB.

J Clin Endocrinol Metab. 2010 Jun;95(6):2857-67. doi: 10.1210/jc.2009-2320. Epub 2010 Mar 23.

PMID:
20332248
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. doi: 10.1210/jc.2009-2600. Epub 2010 Mar 1.

PMID:
20194706
[PubMed - indexed for MEDLINE]
4.

[Congenital hypogonadotropic hypogonadism and Kallmann syndrome in males].

Ghervan C, Young J.

Presse Med. 2014 Feb;43(2):152-61. doi: 10.1016/j.lpm.2013.12.008. Epub 2014 Jan 20. Review. French.

PMID:
24456696
[PubMed - indexed for MEDLINE]
5.

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.

Brioude F, Bouligand J, Francou B, Fagart J, Roussel R, Viengchareun S, Combettes L, Brailly-Tabard S, Lombès M, Young J, Guiochon-Mantel A.

PLoS One. 2013;8(1):e53896. doi: 10.1371/journal.pone.0053896. Epub 2013 Jan 18.

PMID:
23349759
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism.

Laitinen EM, Tommiska J, Virtanen HE, Oehlandt H, Koivu R, Vaaralahti K, Toppari J, Raivio T.

Mol Cell Endocrinol. 2011 Jul 20;341(1-2):35-8. doi: 10.1016/j.mce.2011.05.015. Epub 2011 Jun 1.

PMID:
21664240
[PubMed - indexed for MEDLINE]
7.

Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.

Fukami M, Maruyama T, Dateki S, Sato N, Yoshimura Y, Ogata T.

Horm Res Paediatr. 2010;73(6):477-81. doi: 10.1159/000313373. Epub 2010 Apr 15.

PMID:
20395662
[PubMed - indexed for MEDLINE]
8.

[Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism].

Tusset C, Trarbach EB, Silveira LF, Beneduzzi D, Montenegro L, Latronico AC.

Arq Bras Endocrinol Metabol. 2011 Nov;55(8):501-11. Review. Portuguese.

PMID:
22218430
[PubMed - indexed for MEDLINE]
Free Article
9.

Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.

Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J.

Ann Endocrinol (Paris). 2010 May;71(3):158-62. doi: 10.1016/j.ando.2010.02.024. Epub 2010 Apr 3. Review.

PMID:
20363464
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
22766261
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
22724017
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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

Tusset C, Noel SD, Trarbach EB, Silveira LF, Jorge AA, Brito VN, Cukier P, Seminara SB, Mendonça BB, Kaiser UB, Latronico AC.

Arq Bras Endocrinol Metabol. 2012 Dec;56(9):646-52.

PMID:
23329188
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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. doi: 10.1210/jc.2008-0958. Epub 2008 Aug 5.

PMID:
18682503
[PubMed - indexed for MEDLINE]
14.

Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genes.

Beate K, Joseph N, Nicolas de R, Wolfram K.

Int J Endocrinol. 2012;2012:147893. doi: 10.1155/2012/147893. Epub 2011 Dec 21.

PMID:
22229029
[PubMed]
Free PMC Article
15.

Genetics of congenital hypogonadotropic hypogonadism in Denmark.

Tommiska J, Känsäkoski J, Christiansen P, Jørgensen N, Lawaetz JG, Juul A, Raivio T.

Eur J Med Genet. 2014 Jul;57(7):345-8. doi: 10.1016/j.ejmg.2014.04.002. Epub 2014 Apr 13.

PMID:
24732674
[PubMed - in process]
16.

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.

Brioude F, Bouligand J, Trabado S, Francou B, Salenave S, Kamenicky P, Brailly-Tabard S, Chanson P, Guiochon-Mantel A, Young J.

Eur J Endocrinol. 2010 May;162(5):835-51. doi: 10.1530/EJE-10-0083. Epub 2010 Mar 5. Review.

PMID:
20207726
[PubMed - indexed for MEDLINE]
Free Article
17.

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Quaynor SD, Kim HG, Cappello EM, Williams T, Chorich LP, Bick DP, Sherins RJ, Layman LC.

Fertil Steril. 2011 Dec;96(6):1424-1430.e6. doi: 10.1016/j.fertnstert.2011.09.046. Epub 2011 Oct 28.

PMID:
22035731
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.

Bianco SD, Kaiser UB.

Nat Rev Endocrinol. 2009 Oct;5(10):569-76. doi: 10.1038/nrendo.2009.177. Epub 2009 Aug 25. Review.

PMID:
19707180
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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 Jul 25;8(7):e69616. doi: 10.1371/journal.pone.0069616. Print 2013.

PMID:
23936060
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genetics basis for GnRH-dependent pubertal disorders in humans.

Silveira LF, Trarbach EB, Latronico AC.

Mol Cell Endocrinol. 2010 Aug 5;324(1-2):30-8. doi: 10.1016/j.mce.2010.02.023. Epub 2010 Feb 25. Review.

PMID:
20188792
[PubMed - indexed for MEDLINE]

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