Weissenbach J - Search Results

1

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: weissenbach j. 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

2

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: weissenbach j. Hum Mol Genet. 2002 Jan 1;11(1):107-13. doi: 10.1093/hmg/11.1.107. Hum Mol Genet. 2002. PMID: 11773004

3

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Jobard F, et al. Among authors: weissenbach j. Hum Mol Genet. 2003 Apr 15;12(8):925-35. doi: 10.1093/hmg/ddg097. Hum Mol Genet. 2003. PMID: 12668616

4

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J. Parmentier L, et al. Among authors: weissenbach j. Hum Mol Genet. 1996 Apr;5(4):555-9. doi: 10.1093/hmg/5.4.555. Hum Mol Genet. 1996. PMID: 8845852

5

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. Among authors: weissenbach j. Eur J Hum Genet. 1997 May-Jun;5(3):156-60. Eur J Hum Genet. 1997. PMID: 9272739

6

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. Among authors: weissenbach j. Hum Genet. 1998 Jul;103(1):60-4. doi: 10.1007/s004390050784. Hum Genet. 1998. PMID: 9737778

7

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

8

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.

Parmentier L, Clepet C, Boughdene-Stambouli O, Lakhdar H, Blanchet-Bardon C, Dubertret L, Wunderle E, Pulcini F, Fizames C, Weissenbach J. Parmentier L, et al. Among authors: weissenbach j. Eur J Hum Genet. 1999 Jan;7(1):77-87. doi: 10.1038/sj.ejhg.5200271. Eur J Hum Genet. 1999. PMID: 10094194

9

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. Among authors: weissenbach j. Am J Hum Genet. 2000 Mar;66(3):904-13. doi: 10.1086/302814. Am J Hum Genet. 2000. PMID: 10712205 Free PMC article.

10

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

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