| 1 | CDH7, 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
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| 2 | KAL2, KAL1, FGFR1
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| 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, Dod C, Young J.
|
| J Clin Endocrinol Metab 93(3):758-63. Epub 2007 Dec 26. 2008
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| 3 | DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
|
| Melichar VO, Guth S, Hellebrand H, Meindl A, Hardt K, Kraus C, Trautmann U, Rascher W, Rauch A, Zenker M.
|
| Am J Med Genet A 143(2):135-41. 2007
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| 4 | KAL1
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| KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
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| Bhagavath B, Xu N, Ozata M, Rosenfield RL, Bick DP, Sherins RJ, Layman LC.
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| Mol Hum Reprod 13(3):165-70. Epub 2007 Jan 9.
2007
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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.
|
| 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 | KAL1
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| The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.
|
| Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R.
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| Hum Mol Genet 13(22):2781-91. Epub 2004 Oct 07. 2004
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| 7 | KAL1
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| Anosmin-1 modulates fibroblast growth factor receptor 1 signaling in human gonadotropin-releasing hormone olfactory neuroblasts through a heparan sulfate-dependent mechanism.
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| Gonzalez-Martinez D, Kim SH, Hu Y, Guimond S, Schofield J, Winyard P, Vannelli GB, Turnbull J, Bouloux PM.
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| J Neurosci 24(46):10384-92. 2004
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| 8 | KAL1
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| Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.
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| Soussi-Yanicostas N, de Castro F, Julliard AK, Perfettini I, Chedotal A, Petit C.
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| Cell 109(2):217-28. 2002
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| 9 | KAL1
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| Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1.
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| Robertson A, MacColl GS, Nash JA, Boehm MK, Perkins SJ, Bouloux PM.
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| Biochem J 357(Pt 3):647-59. 2001
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| 10 | KAL1
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| 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.
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| J Hum Genet 45(4):237-40. 2000
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| 11 | DELXPF,DELXPM, SHOX, STS, KAL1, OA1, ARSE
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| Molecular and cytogenetic analysis of familial Xp deletions.
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| Wandstrat AE, Conroy JM, Zurcher VL, Pasztor LM, Clark BA, Zackowski JL, Schwartz S.
|
| Am J Med Genet 94(2):163-9. 2000
|
| 12 | KAL1, KAL1
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| Kallmann Syndrome and the Link between Olfactory and Reproductive Development.
|
| Rugarli EI.
|
| Am J Hum Genet 65(4):943-948. No abstract available 1999
|
| 13 | CPHD2, KAL1, LEPR, OBS1
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| The Molecular Basis of Human Hypogonadotropic Hypogonadism.
|
| Layman LC.
|
| Mol Genet Metab 68(2):191-199 1999
|
| 14 | KAL1
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| A novel mutation of the KAL1 gene in Kallmann syndrome.
|
| Izumi Y, Tatsumi K, Okamoto S, Hosokawa A, Ueno S, Fukui H, Amino N.
|
| Endocr J 46(5):651-8. 1999
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| 15 | KAL1, KAL1
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| A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.
|
| Maya-Nunez G, et al.
|
| J Clin Endocrinol Metab 83 : 1650-1653. 1998
|
| 16 | KAL1, KAL1, MEHMO
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| Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.
|
| Weissrtel R, et al.
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| Clin Genet 54 : 45-51. 1998
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| 17 | KAL1, KAL1
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| A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome.
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| Gu WX, Colquhoun-Kerr JS, Kopp P, Bode HH, Jameson JL.
|
| Mol Genet Metab 65 : 59-61. 1998
|
| 18 | KAL1
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| Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
|
| Georgopoulos NA, et al.
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| J Clin Endocrinol Metab 82 : 213-217. 1997
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| 19 | KAL1
|
| KAL, a gene mutated in Kallmann's syndrome is expressed in the first trimester of human development.
|
| Duke VM, et al.
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| Mol Cell Endocrinol 110 : 73-79. 1995
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| 20 | KAL1
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| Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome.
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| Cohen-Salmon M, et al.
|
| Gene 164 : 235-242. 1995
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| 21 | KAL1
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| Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.
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| Lutz B, et al.
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| Hum Mol Genet 3 : 1717-1723. 1994
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| 22 | KAL1, OA1
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| Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.
|
| Zhang Y, et al.
|
| J Med Genet 30 : 923-925. 1993
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| 23 | KAL1
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| Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.
|
| McVey JH, et al.
|
| Hum Mol Genet 2 : 373-377. 1993
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| 24 | KAL1
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| X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system?
|
| Lutz B, et al.
|
| FEBS Lett 325 : 128-134. 1993
|
| 25 | KAL1, KAL1
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| Xp22.3 deletions in isolated familial Kallmann's syndrome.
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| Hardelin JP, et al.
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| J Clin Endocrinol Metab 76 : 827-831. 1993
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| 26 | KAL1
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| Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting.
|
| Rugarli EI, et al.
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| Nat Genet 4 : 19-25. 1993
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| 27 | DELXPM,KAL1,SSDI,STS
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| A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm.
|
| Lee WC, et al.
|
| Genomics 18 : 1-6. 1993
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| 28 | KAL1
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| Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
|
| Bick D, et al.
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| N Engl J Med 326 : 1752-1755. 1992
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| 29 | KAL1
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| Kallmann syndrome due to a translocation resulting in an X/Y fusion gene.
|
| Guioli S, et al.
|
| Nat Genet 1 : 337-340. 1992
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| 30 | KAL1
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| X chromosome-linked Kallmann syndrome : stop mutations validate the candidate gene.
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| Hardelin JP, et al.
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| Proc Natl Acad Sci U S A 89 : 8190-8194. 1992
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| 31 | KAL1, KALP
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| Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
|
| del Castillo I, et al.
|
| Nat Genet 2 : 305-310. 1992
|
| 32 | KAL1
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| A candidate gene for X-linked Kallmann syndrome.
|
| Legouis R, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2074. 1991
|
| 33 | KAL1
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| Mapping of the Kallmann syndrome locus (KAL) via a translocation patient.
|
| Newman RS, et al.
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| (HGM11) Cytogenet Cell Genet Abs. p238 1991
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| 34 | KAL1
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| A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).
|
| Bouloux PMG, et al.
|
| Nucleic Acids Res 19 : 5453. 1991
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| 35 | KAL1
|
| A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
|
| Franco B, et al.
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| Nature 353 : 529-535. 1991
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| 36 | KAL1
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| The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.
|
| Legouis R, et al.
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| Cell 67 : 423-435. 1991
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| 37 | KAL1
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| Definitive localization of X-linked Kallman syndrome (hypogonadrotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.
|
| Meitinger T, et al.
|
| Am J Hum Genet 47 : 664-669. 1990
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| 38 | SSDI, CDPX1, HHG, KAL1, STS
|
| Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.
|
| Bick D, et al.
|
| Am J Med Genet 33 : 100-107. 1989
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| 39 | ARSE,CDPX1,DELXPM,KAL1,MRX2,OA1,SHOX,SSDI,STS
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| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
|
| Ballabio A, et al.
|
| Proc Natl Acad Sci U S A 86 : 10001-10005. 1989
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| 40 | KAL1, CDPX1
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| Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xq and Yq.
|
| Ballabio A, et al.
|
| Ann Hum Genet 53 : 9-14. 1989
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| 41 | KAL1
|
| Deletions of the steroid sulphatase gene in classical X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.
|
| Ballabio A, et al.
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| Hum Genet 77 : 338-341. 1987
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| 42 | DELXPM,HHG,KAL1,SSDI,STS
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| X-linked ichthyosis, hypogonadotropic hypogonadism, and hyposmia in two male siblings.
|
| Fidone GS, et al.
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| Am J Hum Genet 41 : A58. 1987
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| 43 | STS, DELXPM, KAL1, SSDI, XG
|
| X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) : linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.
|
| Ballabio A, et al.
|
| Hum Genet 72 : 237-240. 1986
|