PubMed (OMIM) for id: 108615

Year	Number of Results
1951	1
1972	1
1976	1
1978	1
1980	1
1985	1
1987	1
1988	1
1990	1
1994	1
1997	1
1998	1
2001	1
2002	3
2003	2
2005	2
2023	0

1

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H. Akiyama M, et al. J Clin Invest. 2005 Jul;115(7):1777-84. doi: 10.1172/JCI24834. J Clin Invest. 2005. PMID: 16007253 Free PMC article.

2

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Kelsell DP, et al. Am J Hum Genet. 2005 May;76(5):794-803. doi: 10.1086/429844. Epub 2005 Mar 8. Am J Hum Genet. 2005. PMID: 15756637 Free PMC article.

3

Congenital ichthyosis.

LATTUADA HP, PARKER MS. LATTUADA HP, et al. Am J Surg. 1951 Aug;82(2):236-9. doi: 10.1016/0002-9610(51)90349-2. Am J Surg. 1951. PMID: 14847077 No abstract available.

4

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

5

The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis.

Zeeuwen PL, Dale BA, de Jongh GJ, van Vlijmen-Willems IM, Fleckman P, Kimball JR, Stephens K, Schalkwijk J. Zeeuwen PL, et al. J Invest Dermatol. 2003 Jul;121(1):65-8. doi: 10.1046/j.1523-1747.2003.12312.x. J Invest Dermatol. 2003. PMID: 12839564 Free article.

6

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34.

Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denèfle P, Rosier M. Annilo T, et al. Cytogenet Genome Res. 2002;98(2-3):169-76. doi: 10.1159/000069811. Cytogenet Genome Res. 2002. PMID: 12697999

7

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification.

Zeeuwen PL, van Vlijmen-Willems IM, Hendriks W, Merkx GF, Schalkwijk J. Zeeuwen PL, et al. Hum Mol Genet. 2002 Nov 1;11(23):2867-75. doi: 10.1093/hmg/11.23.2867. Hum Mol Genet. 2002. PMID: 12393798

8

Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin.

Culican SM, Custer PL. Culican SM, et al. Am J Ophthalmol. 2002 Sep;134(3):442-3. doi: 10.1016/s0002-9394(02)01567-2. Am J Ophthalmol. 2002. PMID: 12208260

9

De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

Stewart H, Smith PT, Gaunt L, Moore L, Tarpey P, Andrew S, Dady I, Rifkin R, Clayton-Smith J. Stewart H, et al. Am J Med Genet. 2001 Sep 1;102(4):342-5. doi: 10.1002/ajmg.1506. Am J Med Genet. 2001. PMID: 11503161

10

Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses.

Akiyama M, Dale BA, Smith LT, Shimizu H, Holbrook KA. Akiyama M, et al. Prenat Diagn. 1998 May;18(5):425-36. Prenat Diagn. 1998. PMID: 9621376

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