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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.
Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Lefévre C, et al. Among authors: lathrop m. Hum Mol Genet. 2003 Sep 15;12(18):2369-78. doi: 10.1093/hmg/ddg235. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915478
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. Mustapha M, et al. Among authors: lathrop m. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484
Clustering patterns of LOD scores for asthma-related phenotypes revealed by a genome-wide screen in 295 French EGEA families.
Bouzigon E, Dizier MH, Krähenbühl C, Lemainque A, Annesi-Maesano I, Betard C, Bousquet J, Charpin D, Gormand F, Guilloud-Bataille M, Just J, Le Moual N, Maccario J, Matran R, Neukirch F, Oryszczyn MP, Paty E, Pin I, Rosenberg-Bourgin M, Vervloet D, Kauffmann F, Lathrop M, Demenais F. Bouzigon E, et al. Among authors: lathrop m. Hum Mol Genet. 2004 Dec 15;13(24):3103-13. doi: 10.1093/hmg/ddh340. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509591
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.
Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: lathrop m. Hum Mol Genet. 2006 Mar 1;15(5):767-76. doi: 10.1093/hmg/ddi491. Epub 2006 Jan 25. Hum Mol Genet. 2006. PMID: 16436457
Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Lesueur F, et al. Among authors: lathrop m. J Invest Dermatol. 2007 Apr;127(4):829-34. doi: 10.1038/sj.jid.5700640. Epub 2006 Nov 30. J Invest Dermatol. 2007. PMID: 17139268 Free article.
665 results