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Results: 1 to 20 of 111

1.

Sjögren-Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder.

Losito L, Gennaro L, De Rinaldis M, Cacudi M, Trabacca A.

Acta Neurol Belg. 2012 Jun;112(2):205-8. doi: 10.1007/s13760-012-0035-z. Epub 2012 Feb 2.

PMID:
22426667
[PubMed - indexed for MEDLINE]
2.

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.

Rizzo WB.

Mol Genet Metab. 2007 Jan;90(1):1-9. Epub 2006 Sep 22. Review.

PMID:
16996289
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.

Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H.

Arch Neurol. 2006 Feb;63(2):278-80.

PMID:
16476818
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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
[PubMed - indexed for MEDLINE]
Free Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

Rizzo WB, Carney G.

Hum Mutat. 2005 Jul;26(1):1-10. Review.

PMID:
15931689
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
17902024
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
Free Article
12.

Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

Carney G, Wei S, Rizzo WB.

Hum Mutat. 2004 Aug;24(2):186.

PMID:
15241804
[PubMed - indexed for MEDLINE]
13.

Diagnosing Sjögren-Larsson syndrome in a 7-year-old Moroccan boy.

Bernardini ML, Cangiotti AM, Zamponi N, Porfiri L, Cinti S, Offidani A.

J Cutan Pathol. 2007 Mar;34(3):270-5.

PMID:
17302612
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
21684788
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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
[PubMed - indexed for MEDLINE]
16.

A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Incecık F, Herguner OM, Rizzo WB, Altunbasak S.

Ann Indian Acad Neurol. 2013 Jul;16(3):425-7. doi: 10.4103/0972-2327.116927.

PMID:
24101836
[PubMed]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.
19.

Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.

Rizzo WB, Craft DA, Somer T, Carney G, Trafrova J, Simon M.

J Lipid Res. 2008 Feb;49(2):410-9. Epub 2007 Oct 30.

PMID:
17971613
[PubMed - indexed for MEDLINE]
Free PMC Article

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