BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

216 related articles for article (PubMed ID: 9829906)

  • 1. 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]  

  • 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. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.
    Rizzo WB; Carney G; Lin Z
    Am J Hum Genet; 1999 Dec; 65(6):1547-60. PubMed ID: 10577908
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. [Sjögren-Larsson syndrome: a novel mutation in a Moroccan child].
    Rafai MA; Boulaajaj FZ; Seito A; Suga Y; Slassi I; Fadel H
    Arch Pediatr; 2008 Nov; 15(11):1648-51. PubMed ID: 18951768
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry.
    Sanders RJ; Ofman R; Dekker C; Kemp S; Wanders RJ
    J Chromatogr B Analyt Technol Biomed Life Sci; 2009 Feb; 877(4):451-5. PubMed ID: 19124283
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 9204959
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.