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Items: 1 to 20 of 117

1.

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.

Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A.

J Hum Genet. 2007;52(10):865-70.

2.

Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.

Yiş U, Terrinoni A.

Turk J Pediatr. 2012 Jan-Feb;54(1):64-6.

PMID:
22397046
3.

An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Sakai K, Akiyama M, Yanagi T, Nampoothiri S, Mampilly T, Sunitha V, Shimizu H.

Int J Dermatol. 2010 Sep;49(9):1031-3. doi: 10.1111/j.1365-4632.2010.04482.x.

PMID:
20883264
4.
5.
6.

Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.

Rizzo WB, Lin Z, Carney G.

Chem Biol Interact. 2001 Jan 30;130-132(1-3):297-307.

PMID:
11306053
7.

Large contiguous gene deletions in Sjögren-Larsson syndrome.

Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB.

Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30.

8.
9.

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O.

J Neurol Sci. 2012 Jan 15;312(1-2):123-6. doi: 10.1016/j.jns.2011.08.006. Epub 2011 Aug 26.

PMID:
21872273
10.

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

Gaboon NE, Jelani M, Almramhi MM, Mohamoud HS, Al-Aama JY.

J Dermatol. 2015 Jul;42(7):706-9. doi: 10.1111/1346-8138.12861. Epub 2015 Apr 9.

PMID:
25855245
11.
12.

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.

J Child Neurol. 2013 Oct;28(10):1259-65. doi: 10.1177/0883073812460581. Epub 2012 Oct 3.

PMID:
23034980
13.

Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.

De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB.

Nat Genet. 1996 Jan;12(1):52-7.

PMID:
8528251
14.

RNA-based mutation screening in German families with Sjögren-Larsson syndrome.

Kraus C, Braun-Quentin C, Ballhausen WG, Pfeiffer RA.

Eur J Hum Genet. 2000 Apr;8(4):299-306.

15.

Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.

Haug S, Braun-Falco M.

Gene Ther. 2006 Jul;13(13):1021-6. Epub 2006 Mar 9.

PMID:
16525484
16.

Novel ALDH3A2 heterozygous mutations in a Japanese family with Sjögren-Larsson syndrome.

Sakai K, Akiyama M, Watanabe T, Sanayama K, Sugita K, Takahashi M, Suehiro K, Yorifuji K, Shibaki A, Shimizu H.

J Invest Dermatol. 2006 Nov;126(11):2545-7. Epub 2006 Jun 22. No abstract available.

17.

Mutations associated with Sjögren-Larsson syndrome.

Tsukamoto N, Chang C, Yoshida A.

Ann Hum Genet. 1997 May;61(Pt 3):235-42.

18.

A common deletion mutation in European patients with Sjögren-Larsson syndrome.

Rizzo WB, Carney G, De Laurenzi V.

Biochem Mol Med. 1997 Dec;62(2):178-81.

PMID:
9441870
19.

Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients.

De Laurenzi V, Rogers GR, Tarcsa E, Carney G, Marekov L, Bale SJ, Compton JG, Markova N, Steinert PM, Rizzo WB.

J Invest Dermatol. 1997 Jul;109(1):79-83.

20.

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.

Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ.

Brain. 2001 Jul;124(Pt 7):1426-37. Review.

PMID:
11408337

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