203 related articles for article (PubMed ID: 9250352)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome.
Haug S; Braun-Falco M
Arch Dermatol Res; 2005 Jun; 296(12):568-72. PubMed ID: 15834613
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Sjögren-Larsson syndrome: biochemical defects and follow up in three cases.
Auada MP; Taube MB; Collares EF; Tanaka AM; Cintra ML
Eur J Dermatol; 2002; 12(3):263-6. PubMed ID: 11978568
[TBL] [Abstract][Full Text] [Related]
13. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
Zhang DL; Ji L; Li YD
Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
[TBL] [Abstract][Full Text] [Related]
14. Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren-Larsson syndrome.
Gloerich J; Ijlst L; Wanders RJ; Ferdinandusse S
Mol Genet Metab; 2006; 89(1-2):111-5. PubMed ID: 16837225
[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. Human fatty aldehyde dehydrogenase gene (ALDH10): organization and tissue-dependent expression.
Chang C; Yoshida A
Genomics; 1997 Feb; 40(1):80-5. PubMed ID: 9070922
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. PubMed ID: 9441870
[TBL] [Abstract][Full Text] [Related]
19. Sjögren-Larsson syndrome.
Gordon N
Dev Med Child Neurol; 2007 Feb; 49(2):152-4. PubMed ID: 17254005
[TBL] [Abstract][Full Text] [Related]
20. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
Lin Z; deMello DE; Wallot M; Floros J
Mol Genet Metab; 1998 May; 64(1):25-35. PubMed ID: 9682215
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]