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Items: 1 to 20 of 161

1.

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.

Castiglia D, Castori M, Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C.

Clin Genet. 2009 Oct;76(4):392-7. doi: 10.1111/j.1399-0004.2009.01198.x. Epub 2009 Aug 3.

PMID:
19664001
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.

Am J Hum Genet. 2005 May;76(5):794-803. Epub 2005 Mar 8.

3.

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.

J Clin Invest. 2005 Jul;115(7):1777-84.

4.
5.

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

Follmann J, Macchiella D, Whybra C, Mildenberger E, Poarangan C, Zechner U, Bartsch O.

Gene. 2013 Dec 1;531(2):510-3. doi: 10.1016/j.gene.2013.07.046. Epub 2013 Sep 20.

PMID:
24055722
6.

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.

Shibata A, Sugiura K, Suzuki A, Ichiki T, Akiyama M.

J Dermatol Sci. 2015 Dec;80(3):196-202. doi: 10.1016/j.jdermsci.2015.10.003. Epub 2015 Oct 8.

PMID:
26475431
7.

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.

Thomas AC, Tattersall D, Norgett EE, O'Toole EA, Kelsell DP.

Am J Pathol. 2009 Mar;174(3):970-8. doi: 10.2353/ajpath.2009.080860. Epub 2009 Jan 29.

8.

Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

Akiyama M, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, Shimizu H.

Dermatology. 2007;215(2):155-9.

PMID:
17684380
9.

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J.

Eur J Dermatol. 2012 Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638.

PMID:
22257947
10.

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.

Akiyama M.

Arch Dermatol. 2006 Jul;142(7):914-8. Review.

PMID:
16847209
11.

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C.

Mol Vis. 2007 Jan 26;13:96-101.

12.

Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.

Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC.

Birth Defects Res A Clin Mol Teratol. 2005 Aug;73(8):577-82.

PMID:
16007591
13.

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.

Hum Mol Genet. 2003 Sep 15;12(18):2369-78. Epub 2003 Jul 15.

14.

Harlequin ichthyosis in two siblings.

Habib A, Pasha W, Raza N, Hameed A.

J Coll Physicians Surg Pak. 2011 Aug;21(8):503-5. doi: 08.2011/JCPSP.503505.

PMID:
21798141
15.

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.

Scott CA, Rajpopat S, Di WL.

Cell Tissue Res. 2013 Feb;351(2):281-8. doi: 10.1007/s00441-012-1474-9. Epub 2012 Aug 4. Review.

PMID:
22864982
16.

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP.

Br J Dermatol. 2008 Mar;158(3):611-3. Epub 2007 Nov 6. No abstract available.

PMID:
17986308
17.
18.

Novel ABCA12 mutations in harlequin ichthyosis: a journey from photo diagnosis to prenatal diagnosis.

Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A.

Gene. 2015 Feb 10;556(2):254-6. doi: 10.1016/j.gene.2014.12.002. Epub 2014 Dec 3.

PMID:
25479012
19.

ABCA12 is the major harlequin ichthyosis gene.

Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2006 Nov;126(11):2408-13. Epub 2006 Aug 10.

20.

[The role in harlequin ichthyosis of mutations in lipid transporter ABCA12].

Dereure O.

Ann Dermatol Venereol. 2006 Jan;133(1):97. French. No abstract available.

PMID:
16495867
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