309 related articles for article (PubMed ID: 12727945)
1. X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.
Massin N; Pêcheux C; Eloit C; Bensimon JL; Galey J; Kuttenn F; Hardelin JP; Dodé C; Touraine P
J Clin Endocrinol Metab; 2003 May; 88(5):2003-8. PubMed ID: 12727945
[TBL] [Abstract][Full Text] [Related]
2. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.
Quinton R; Duke VM; Robertson A; Kirk JM; Matfin G; de Zoysa PA; Azcona C; MacColl GS; Jacobs HS; Conway GS; Besser M; Stanhope RG; Bouloux PM
Clin Endocrinol (Oxf); 2001 Aug; 55(2):163-74. PubMed ID: 11531922
[TBL] [Abstract][Full Text] [Related]
3. A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome.
Jansen C; Hendriks-Stegeman BI; Jansen M
Horm Res; 2000; 53(4):207-12. PubMed ID: 11044805
[TBL] [Abstract][Full Text] [Related]
4. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Oliveira LM; Seminara SB; Beranova M; Hayes FJ; Valkenburgh SB; Schipani E; Costa EM; Latronico AC; Crowley WF; Vallejo M
J Clin Endocrinol Metab; 2001 Apr; 86(4):1532-8. PubMed ID: 11297579
[TBL] [Abstract][Full Text] [Related]
5. Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism.
Versiani BR; Trarbach E; Koenigkam-Santos M; Dos Santos AC; Elias LL; Moreira AC; Latronico AC; de Castro M
Clin Endocrinol (Oxf); 2007 Feb; 66(2):173-9. PubMed ID: 17223984
[TBL] [Abstract][Full Text] [Related]
6. A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
Maya-Nuñez G; Zenteno JC; Ulloa-Aguirre A; Kofman-Alfaro S; Mendez JP
J Clin Endocrinol Metab; 1998 May; 83(5):1650-3. PubMed ID: 9589672
[TBL] [Abstract][Full Text] [Related]
7. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N; Katsumata N; Kagami M; Hasegawa T; Hori N; Kawakita S; Minowada S; Shimotsuka A; Shishiba Y; Yokozawa M; Yasuda T; Nagasaki K; Hasegawa D; Hasegawa Y; Tachibana K; Naiki Y; Horikawa R; Tanaka T; Ogata T
J Clin Endocrinol Metab; 2004 Mar; 89(3):1079-88. PubMed ID: 15001591
[TBL] [Abstract][Full Text] [Related]
8. A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.
Nagata K; Yamamoto T; Chikumi H; Ikeda T; Yamamoto H; Hashimoto K; Yoneda K; Nanba E; Ninomiya H; Ishitobi K
J Hum Genet; 2000; 45(4):237-40. PubMed ID: 10944855
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients.
Trarbach EB; Baptista MT; Garmes HM; Hackel C
J Endocrinol; 2005 Dec; 187(3):361-8. PubMed ID: 16423815
[TBL] [Abstract][Full Text] [Related]
10. Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene.
O'Neill MJ; Tridjaja B; Smith MJ; Bell KM; Warne GL; Sinclair AH
Hum Mutat; 1998; 11(4):340-2. PubMed ID: 9554756
[TBL] [Abstract][Full Text] [Related]
11. Discovery of a large deletion of KAL1 in 2 deaf brothers.
Marlin S; Chantot-Bastaraud S; David A; Loundon N; Jonard L; Portnoï MF; Bonnet C; Louha M; Gherbi S; Garabedian EN; Couderc R; Denoyelle F
Otol Neurotol; 2013 Dec; 34(9):1590-4. PubMed ID: 24232061
[TBL] [Abstract][Full Text] [Related]
12. A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome.
Hardelin JP; Petit C
Baillieres Clin Endocrinol Metab; 1995 Jul; 9(3):489-507. PubMed ID: 7575329
[TBL] [Abstract][Full Text] [Related]
13. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
Legouis R; Hardelin JP; Levilliers J; Claverie JM; Compain S; Wunderle V; Millasseau P; Le Paslier D; Cohen D; Caterina D
Cell; 1991 Oct; 67(2):423-35. PubMed ID: 1913827
[TBL] [Abstract][Full Text] [Related]
14. Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS; Gill JC
Nat Clin Pract Endocrinol Metab; 2006 Mar; 2(3):160-71. PubMed ID: 16932275
[TBL] [Abstract][Full Text] [Related]
15. Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.
Izumi Y; Tatsumi K; Okamoto S; Ogawa T; Hosokawa A; Matsuo T; Kato Y; Fukui H; Amino N
Endocr J; 2001 Apr; 48(2):143-9. PubMed ID: 11456260
[TBL] [Abstract][Full Text] [Related]
16. [Kallmann syndrome: a historical [corrected] clinical and molecular review].
Ribeiro RS; Abucham J
Arq Bras Endocrinol Metabol; 2008 Feb; 52(1):8-17. PubMed ID: 18345392
[TBL] [Abstract][Full Text] [Related]
17. Kallmann syndrome: towards molecular pathogenesis.
Hardelin JP
Mol Cell Endocrinol; 2001 Jun; 179(1-2):75-81. PubMed ID: 11420131
[TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China.
Tang KF; Wu QF; Zou TJ; Xue W; Wang XY; Xing JP
Asian J Androl; 2009 Nov; 11(6):711-5. PubMed ID: 19734936
[TBL] [Abstract][Full Text] [Related]
19. Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Dodé C; Hardelin JP
J Mol Med (Berl); 2004 Nov; 82(11):725-34. PubMed ID: 15365636
[TBL] [Abstract][Full Text] [Related]
20. [Kallmann De Morsier syndrome: FGF-signaling insufficiency?].
Dodé C; Hardelin JP
Med Sci (Paris); 2004; 20(8-9):793-8. PubMed ID: 15361347
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]