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Page 1
The DNA sequence and analysis of human chromosome 14.
Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Brüls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Ségurens B, Anière F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Ménard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufossé-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guérin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quétier F, Waterston R, Hood L, Weissenbach J. Heilig R, et al. Among authors: cruaud c. Nature. 2003 Feb 6;421(6923):601-7. doi: 10.1038/nature01348. Epub 2003 Jan 1. Nature. 2003. PMID: 12508121
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: cruaud c. Nature. 1996 Oct 24;383(6602):707-10. doi: 10.1038/383707a0. Nature. 1996. PMID: 8878478
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Among authors: cruaud c. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840
A transcriptional Map of the FMF region.
Bernot A, Heilig R, Clepet C, Smaoui N, Da Silva C, Petit JL, Devaud C, Chiannilkulchai N, Fizames C, Samson D, Cruaud C, Caloustian C, Gyapay G, Delpech M, Weissenbach J. Bernot A, et al. Among authors: cruaud c. Genomics. 1998 Jun 1;50(2):147-60. doi: 10.1006/geno.1998.5313. Genomics. 1998. PMID: 9653642
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I. Bernot A, et al. Among authors: cruaud c. Hum Mol Genet. 1998 Aug;7(8):1317-25. doi: 10.1093/hmg/7.8.1317. Hum Mol Genet. 1998. PMID: 9668175
198 results