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Page 1
Next-generation sequencing of patients with congenital anosmia.
Alkelai A, Olender T, Dode C, Shushan S, Tatarskyy P, Furman-Haran E, Boyko V, Gross-Isseroff R, Halvorsen M, Greenbaum L, Milgrom R, Yamada K, Haneishi A, Blau I, Lancet D. Alkelai A, et al. Among authors: dode c. Eur J Hum Genet. 2017 Dec;25(12):1377-1387. doi: 10.1038/s41431-017-0014-1. Epub 2017 Nov 13. Eur J Hum Genet. 2017. PMID: 29255181 Free PMC article.
Kallmann syndrome.
Dodé C, Hardelin JP. Dodé C, et al. Eur J Hum Genet. 2009 Feb;17(2):139-46. doi: 10.1038/ejhg.2008.206. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985070 Free PMC article.
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J, Pêcheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dodé C. Albuisson J, et al. Among authors: dode c. Hum Mutat. 2005 Jan;25(1):98-9. doi: 10.1002/humu.9298. Hum Mutat. 2005. PMID: 15605412
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M. Vasson A, et al. Among authors: dode c. Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340513 Free PMC article.
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
109 results