| 1 | FGFR1, KAL2
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| Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.
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| Jarzabek K, Wolczynski S, Lesniewicz R, Plessis G, Kottler M.
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| Adv Med Sci 57(2):314-21. doi: 10.2478/v10039-012-0036-4.
2012
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| 2 | CDH7, FGF8, FGFR1, GNRHR, IHH1, IHH2GNRH1, KAL1, KAL1, KAL2, KAL3, KAL4, KISS1R, PCC, PROK2, PROKR2, TAC3, TACR3
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| Genetics basis for GnRH-dependent pubertal disorders in humans.
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| Silveira LF, Trarbach EB, Latronico AC.
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| Mol Cell Endocrinol 324(1-2):30-8. Epub 2010 Feb 25. Review.PMID: 20188792 2010
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| 3 | KAL2, KAL1, FGFR1
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| Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.
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| Salenave S, Chanson P, Bry H, Pugeat M, Cabrol S, Carel JC, Murat A, Lecomte P, Brailly S, Hardelin JP, DodŽ C, Young J.
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| J Clin Endocrinol Metab 93(3):758-63. Epub 2007 Dec 26. 2008
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| 4 | FGF8, FGFR1, KAL2, KAL4
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| Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.
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| Chung WC, Moyle SS, Tsai PS.
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| Endocrinology 149(10):4997-5003. Epub 2008 Jun 19.
2008
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| 5 | KAL1, KAL2, KAL3, KAL4, PROK2, PROKR2
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| Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
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| 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.
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| PLoS Genet 2(10):e175. Epub 2006 Sep 1. 2006
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| 6 | FGFR1, KAL2
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| Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son.
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| Sato N, Ohyama K, Fukami M, Okada M, Ogata T.
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| J Clin Endocrinol Metab 91(4):1415-8. Epub 2006 Jan 17. 2006
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| 7 | FGFR1, KAL2
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| Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
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| 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.
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| Mol Cell Endocrinol 254-255:60-9. Epub 2006 Jun 9. 2006
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| 8 | FGFR1, KAL2
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| Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
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| Zenaty D, Bretones P, Lambe C, Guemas I, David M, LŽger J, de Roux N.
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| Mol Cell Endocrinol 254-255:78-83. Epub 2006 Jun 6. 2006
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| 9 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| New case of contiguous gene syndrome at chromosome 8p11.2p12.
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| Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
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| Am J Med Genet A 136A(2):221-222. 2005
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| 10 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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| 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.
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| Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
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| 11 | KAL2
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| The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
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| Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr, Vallejo M.
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| J Clin Endocrinol Metab 86(4):1532-8. 2001
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| 12 | KAL2
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| Chromosome abnormality in Kallmann syndrome.
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| Best LG, et al.
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| Am J Med Genet 35 : 306-309. 1990
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