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Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: heilig r. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11590543 Free PMC article.
Genetic linkage of Meleda disease to chromosome 8qter.
Fischer J, Bouadjar B, Heilig R, Fizames C, Prud'homme JF, Weissenbach J. Fischer J, et al. Among authors: heilig r. Eur J Hum Genet. 1998 Nov-Dec;6(6):542-7. doi: 10.1038/sj.ejhg.5200254. Eur J Hum Genet. 1998. PMID: 9887370
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF. Fischer J, et al. Among authors: heilig r. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. Hum Mol Genet. 2001. PMID: 11285253
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: heilig r. 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
Construction of a highly annotated cosmid contig spanning 550Kb within the X-linked nonspecific mental retardation candidate region at Xp21.3-22.1.
Carrié A, Nepotes V, Billuart P, Beldjord C, Bienvenu T, Chelly J, Bruls T, Heilig R, Weissenbach J, Jun L, Marynen P. Carrié A, et al. Among authors: heilig r. Am J Med Genet. 1999 Jul 30;85(3):252-4. doi: 10.1002/(sici)1096-8628(19990730)85:3<252::aid-ajmg13>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10398238 No abstract available.
150 results