Citations for
1FGFR1, KAL2
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
Jarzabek K, Wolczynski S, Lesniewicz R, Plessis G, Kottler M.
Adv Med Sci 57(2):314-21. doi: 10.2478/v10039-012-0036-4. 2012
2CDH7, FGF8, FGFR1, GNRHR, IHH1, IHH2GNRH1, KAL1, KAL1, KAL2, KAL3, KAL4, KISS1R, PCC, PROK2, PROKR2, TAC3, TACR3
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF, Trarbach EB, Latronico AC.
Mol Cell Endocrinol 324(1-2):30-8. Epub 2010 Feb 25. Review.PMID: 20188792 2010
3KAL2, KAL1, FGFR1
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
Salenave S, Chanson P, Bry H, Pugeat M, Cabrol S, Carel JC, Murat A, Lecomte P, Brailly S, Hardelin JP, DodŽ C, Young J.
J Clin Endocrinol Metab 93(3):758-63. Epub 2007 Dec 26. 2008
4FGF8, FGFR1, KAL2, KAL4
Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.
Chung WC, Moyle SS, Tsai PS.
Endocrinology 149(10):4997-5003. Epub 2008 Jun 19. 2008
5KAL1, KAL2, KAL3, KAL4, PROK2, PROKR2
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP.
PLoS Genet 2(10):e175. Epub 2006 Sep 1. 2006
6FGFR1, KAL2
Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.
Sato N, Ohyama K, Fukami M, Okada M, Ogata T.
J Clin Endocrinol Metab 91(4):1415-8. Epub 2006 Jan 17. 2006
7FGFR1, KAL2
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr.
Mol Cell Endocrinol 254-255:60-9. Epub 2006 Jun 9. 2006
8FGFR1, KAL2
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
Zenaty D, Bretones P, Lambe C, Guemas I, David M, LŽger J, de Roux N.
Mol Cell Endocrinol 254-255:78-83. Epub 2006 Jun 6. 2006
9ANK1, DEL8PP, FGFR1, KAL2, SPH1
New case of contiguous gene syndrome at chromosome 8p11.2p12.
Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
Am J Med Genet A 136A(2):221-222. 2005
10ANK1, DEL8PP, FGFR1, KAL2, SPH1
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.
Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
11KAL2
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 Jr, Vallejo M.
J Clin Endocrinol Metab 86(4):1532-8. 2001
12KAL2
Chromosome abnormality in Kallmann syndrome.
Best LG, et al.
Am J Med Genet 35 : 306-309. 1990