Blanchet-Bardon C - 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. 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

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme JF, Dubertret L, Weissenbach J. Parmentier L, et al. Hum Mol Genet. 1995 Aug;4(8):1391-5. doi: 10.1093/hmg/4.8.1391. Hum Mol Genet. 1995. PMID: 7581379

3

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. Hum Mol Genet. 1996 Apr;5(4):555-9. doi: 10.1093/hmg/5.4.555. Hum Mol Genet. 1996. PMID: 8845852

4

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

5

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. Eur J Hum Genet. 1999 Jan;7(1):77-87. doi: 10.1038/sj.ejhg.5200271. Eur J Hum Genet. 1999. PMID: 10094194

6

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.

7

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. 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.

8

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

9

Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis.

Bourrat E, Blanchet-Bardon C, Derbois C, Cure S, Fischer J. Bourrat E, et al. Among authors: blanchet bardon c. Arch Dermatol. 2012 Oct;148(10):1191-5. doi: 10.1001/archdermatol.2012.1947. Arch Dermatol. 2012. PMID: 22801880

10

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.

Essenfelder GM, Bruzzone R, Lamartine J, Charollais A, Blanchet-Bardon C, Barbe MT, Meda P, Waksman G. Essenfelder GM, et al. Hum Mol Genet. 2004 Aug 15;13(16):1703-14. doi: 10.1093/hmg/ddh191. Epub 2004 Jun 22. Hum Mol Genet. 2004. PMID: 15213106

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