224 related articles for article (PubMed ID: 20883264)
1. 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. PubMed ID: 20883264
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15931689
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15241804
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 8528251
[TBL] [Abstract][Full Text] [Related]
5. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.
Sillén A; Anton-Lamprecht I; Braun-Quentin C; Kraus CS; Sayli BS; Ayuso C; Jagell S; Küster W; Wadelius C
Hum Mutat; 1998; 12(6):377-84. PubMed ID: 9829906
[TBL] [Abstract][Full Text] [Related]
6. First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome.
Sillén A; Holmgren G; Wadelius C
Prenat Diagn; 1997 Dec; 17(12):1147-9. PubMed ID: 9467812
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 10854114
[TBL] [Abstract][Full Text] [Related]
8. Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.
Yiş U; Terrinoni A
Turk J Pediatr; 2012; 54(1):64-6. PubMed ID: 22397046
[TBL] [Abstract][Full Text] [Related]
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; 312(1-2):123-6. PubMed ID: 21872273
[TBL] [Abstract][Full Text] [Related]
10. 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):865-870. PubMed ID: 17902024
[TBL] [Abstract][Full Text] [Related]
11. Compound heterozygous mutations in the
Liu YD; Lin HJ; Li CY; Sun GF; Hu XB; Ma MY; Sun Y; Feng BZ; Li QB; Kong QX
Int J Neurosci; 2020 Nov; 130(11):1156-1160. PubMed ID: 31944864
[No Abstract] [Full Text] [Related]
12. Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome.
Haug S; Braun-Falco M
Gene Ther; 2006 Jul; 13(13):1021-6. PubMed ID: 16525484
[TBL] [Abstract][Full Text] [Related]
13. Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.
Amr K; El-Bassyouni HT; Ismail S; Youness E; El-Daly SM; Ebrahim AY; El-Kamah G
Arch Dermatol Res; 2019 Nov; 311(9):721-730. PubMed ID: 31388754
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 25855245
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 17302612
[TBL] [Abstract][Full Text] [Related]
16. Mutations associated with Sjögren-Larsson syndrome.
Tsukamoto N; Chang C; Yoshida A
Ann Hum Genet; 1997 May; 61(Pt 3):235-42. PubMed ID: 9250352
[TBL] [Abstract][Full Text] [Related]
17. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome.
Rizzo WB; Lin Z; Carney G
Chem Biol Interact; 2001 Jan; 130-132(1-3):297-307. PubMed ID: 11306053
[TBL] [Abstract][Full Text] [Related]
18. Genomic organization, expression, and alternate splicing of the mouse fatty aldehyde dehydrogenase gene.
Lin Z; Carney G; Rizzo WB
Mol Genet Metab; 2000 Nov; 71(3):496-505. PubMed ID: 11073717
[TBL] [Abstract][Full Text] [Related]
19. Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.
Rizzo WB
Mol Genet Metab; 2007 Jan; 90(1):1-9. PubMed ID: 16996289
[TBL] [Abstract][Full Text] [Related]
20. A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.
Sillén A; Jagell S; Wadelius C
Hum Genet; 1997 Aug; 100(2):201-3. PubMed ID: 9254849
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
