Fischer J - Search Results

1

CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.

Caux F, Selma ZB, Laroche L, Prud'homme JF, Fischer J. Caux F, et al. Among authors: fischer j. Am J Med Genet A. 2004 Aug 30;129A(2):214. doi: 10.1002/ajmg.a.30228. Am J Med Genet A. 2004. PMID: 15316960 No abstract available.

2

Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.

Fischer J, Blanchet-Bardon C, Prud'homme JF, Pavek S, Steijlen PM, Dubertret L, Weissenbach J. Fischer J, et al. Eur J Hum Genet. 1997 May-Jun;5(3):156-60. Eur J Hum Genet. 1997. PMID: 9272739

3

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22.

Fischer J, Urtizberea JA, Pavek S, Vandiedonck C, Bruls T, Saker S, Alkatip Y, Prud'homme JF, Weissenbach J. Fischer J, et al. Hum Genet. 1998 Jul;103(1):60-4. doi: 10.1007/s004390050784. Hum Genet. 1998. PMID: 9737778

4

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. Eur J Hum Genet. 1998 Nov-Dec;6(6):542-7. doi: 10.1038/sj.ejhg.5200254. Eur J Hum Genet. 1998. PMID: 9887370

5

Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.

Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF. Fischer J, et al. Am J Hum Genet. 2000 Mar;66(3):904-13. doi: 10.1086/302814. Am J Hum Genet. 2000. PMID: 10712205 Free PMC article.

6

Clinical and genetic studies of 3 large, consanguineous, Algerian families with Mal de Meleda.

Bouadjar B, Benmazouzia S, Prud'homme JF, Cure S, Fischer J. Bouadjar B, et al. Among authors: fischer j. Arch Dermatol. 2000 Oct;136(10):1247-52. doi: 10.1001/archderm.136.10.1247. Arch Dermatol. 2000. PMID: 11030771

7

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. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. Hum Mol Genet. 2001. PMID: 11285253

8

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: fischer j. 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.

9

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Jobard F, et al. Among authors: fischer j. Hum Mol Genet. 2002 Jan 1;11(1):107-13. doi: 10.1093/hmg/11.1.107. Hum Mol Genet. 2002. PMID: 11773004

10

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

Lefèvre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'Homme JF, Fischer J. Lefèvre C, et al. Among authors: fischer j. J Invest Dermatol. 2001 Dec;117(6):1657-61. doi: 10.1046/j.0022-202x.2001.01595.x. J Invest Dermatol. 2001. PMID: 11886537 Free article.

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