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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1973 1
1977 1
1982 2
1983 1
1987 2
1990 1
1993 2
2000 1
2001 2
2003 1
2004 1
2005 1
2024 0

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PubMed (OMIM) for id: 289648

17 results

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Page 1
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. Sato N, et al. J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. doi: 10.1210/jc.2003-030476. J Clin Endocrinol Metab. 2004. PMID: 15001591
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux 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. Dodé C, et al. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230
Diagnosis of Kallmann's syndrome in early infancy.
Evain-Brion D, Gendrel D, Bozzola M, Chaussain JL, Job JC. Evain-Brion D, et al. Acta Paediatr Scand. 1982 Nov;71(6):937-40. doi: 10.1111/j.1651-2227.1982.tb09552.x. Acta Paediatr Scand. 1982. PMID: 6984277 No abstract available.
17 results