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CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.
Lesage S, Zouali H, Cézard JP, Colombel JF, Belaiche J, Almer S, Tysk C, O'Morain C, Gassull M, Binder V, Finkel Y, Modigliani R, Gower-Rousseau C, Macry J, Merlin F, Chamaillard M, Jannot AS, Thomas G, Hugot JP; EPWG-IBD Group; EPIMAD Group; GETAID Group. Lesage S, et al. Among authors: jannot as. Am J Hum Genet. 2002 Apr;70(4):845-57. doi: 10.1086/339432. Epub 2002 Mar 1. Am J Hum Genet. 2002. PMID: 11875755 Free PMC article.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Among authors: jannot as. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S. Jannot AS, et al. Eur J Hum Genet. 2012 Sep;20(9):917-20. doi: 10.1038/ejhg.2012.35. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395866 Free PMC article.
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
Jannot AS, Meziani R, Bertrand G, Gérard B, Descamps V, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Saiag P, Crickx B, Clerget-Darpoux F, Grandchamp B, Soufir N, Melan-Cohort. Jannot AS, et al. Eur J Hum Genet. 2005 Aug;13(8):913-20. doi: 10.1038/sj.ejhg.5201415. Eur J Hum Genet. 2005. PMID: 15889046
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Messiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy PH, Demougeot L, Slama LB, Landais P; AnDDI-Rares network; Jannot AS, Binquet C, Sandrin A, Verloes A, Faivre L. Messiaen C, et al. Among authors: jannot as. Orphanet J Rare Dis. 2021 Aug 4;16(1):345. doi: 10.1186/s13023-021-01957-4. Orphanet J Rare Dis. 2021. PMID: 34348744 Free PMC article.
146 results