PubMed (cited) for id: 601277

Year	Number of Results
1996	1
1999	1
2000	1
2003	2
2005	1
2006	1
2009	1
2010	2
2024	0

1

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Akiyama M. Akiyama M. Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Hum Mutat. 2010. PMID: 20672373 Review.

2

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Oji V, et al. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. J Am Acad Dermatol. 2010. PMID: 20643494 Review.

3

Autosomal recessive congenital ichthyosis.

Fischer J. Fischer J. J Invest Dermatol. 2009 Jun;129(6):1319-21. doi: 10.1038/jid.2009.57. J Invest Dermatol. 2009. PMID: 19434086 Free article.

4

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. 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

5

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Eckl KM, et al. Hum Mutat. 2005 Oct;26(4):351-61. doi: 10.1002/humu.20236. Hum Mutat. 2005. PMID: 16116617

6

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

7

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.

Akiyama M, Sawamura D, Shimizu H. Akiyama M, et al. Clin Exp Dermatol. 2003 May;28(3):235-40. doi: 10.1046/j.1365-2230.2003.01295.x. Clin Exp Dermatol. 2003. PMID: 12780701 Review.

8

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.

9

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

10

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

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