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8. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Tornberg J; Sykiotis GP; Keefe K; Plummer L; Hoang X; Hall JE; Quinton R; Seminara SB; Hughes V; Van Vliet G; Van Uum S; Crowley WF; Habuchi H; Kimata K; Pitteloud N; Bülow HE Proc Natl Acad Sci U S A; 2011 Jul; 108(28):11524-9. PubMed ID: 21700882 [TBL] [Abstract][Full Text] [Related]
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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. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Rugarli EI; Ghezzi C; Valsecchi V; Ballabio A Hum Mol Genet; 1996 Aug; 5(8):1109-15. PubMed ID: 8842728 [TBL] [Abstract][Full Text] [Related]
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13. Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner. Soussi-Yanicostas N; Faivre-Sarrailh C; Hardelin JP; Levilliers J; Rougon G; Petit C J Cell Sci; 1998 Oct; 111 ( Pt 19)():2953-65. PubMed ID: 9730987 [TBL] [Abstract][Full Text] [Related]
14. Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome. Ardouin O; Legouis R; Fasano L; David-Watine B; Korn H; Hardelin J; Petit C Mech Dev; 2000 Jan; 90(1):89-94. PubMed ID: 10585565 [TBL] [Abstract][Full Text] [Related]
15. 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]
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18. 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]
19. 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]
20. 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] [Next] [New Search]