BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 15375602)

  • 21. Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.
    Pettigrew C; Wayte N; Lovelock PK; Tavtigian SV; Chenevix-Trench G; Spurdle AB; Brown MA
    Breast Cancer Res; 2005; 7(6):R929-39. PubMed ID: 16280041
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
    Ługowska A; Wlodarski P; Płoski R; Mierzewska H; Dudzińska M; Matheisel A; Swietochowska H; Tylki-Szymańska A
    Clin Genet; 2009 Jan; 75(1):57-64. PubMed ID: 19021637
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
    Hahn SH; Krasnewich D; Brantly M; Kvittingen EA; Gahl WA
    Hum Mutat; 1995; 6(1):66-73. PubMed ID: 7550234
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
    Maimaiti M; Takahashi S; Okajima K; Suzuki N; Ohinata J; Araki A; Tanaka H; Mukai T; Fujieda K
    J Hum Genet; 2009 Aug; 54(8):493-6. PubMed ID: 19609281
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
    Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
    Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
    Kappler J; Sommerlade HJ; von Figura K; Gieselmann V
    Hum Mutat; 1994; 4(2):119-27. PubMed ID: 7981715
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.
    Demirci FY; Radak AL; Rigatti BW; Mah TS; Gorin MB
    Am J Ophthalmol; 2004 Sep; 138(3):504-5. PubMed ID: 15364249
    [TBL] [Abstract][Full Text] [Related]  

  • 28. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
    Harvey JS; Nelson PV; Carey WF; Robertson EF; Morris CP
    Hum Mutat; 1993; 2(4):261-7. PubMed ID: 8104633
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
    Eng B; Nakamura LN; O'Reilly N; Schokman N; Nowaczyk MM; Krivit W; Waye JS
    Hum Mutat; 2003 Nov; 22(5):418-9. PubMed ID: 14517960
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Fukao T; Horikawa R; Naiki Y; Tanaka T; Takayanagi M; Yamaguchi S; Kondo N
    Mol Genet Metab; 2010 Aug; 100(4):339-44. PubMed ID: 20488739
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Listening to silence and understanding nonsense: exonic mutations that affect splicing.
    Cartegni L; Chew SL; Krainer AR
    Nat Rev Genet; 2002 Apr; 3(4):285-98. PubMed ID: 11967553
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract.
    Habara Y; Doshita M; Hirozawa S; Yokono Y; Yagi M; Takeshima Y; Matsuo M
    J Biochem; 2008 Mar; 143(3):303-10. PubMed ID: 18039686
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].
    Wang JM; Jiang YW; Shi HP; Zhang WM; Pan H; Bao XH; Wu Y; Qin J; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):378-82. PubMed ID: 16883521
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney.
    Shao L; Liu L; Miao Z; Ren H; Wang W; Lang Y; Yue S; Chen N
    Am J Nephrol; 2008; 28(6):900-7. PubMed ID: 18580052
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Hereditary angioedema: the mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
    Roche O; Blanch A; Duponchel C; Fontán G; Tosi M; López-Trascasa M
    Hum Mutat; 2005 Aug; 26(2):135-44. PubMed ID: 15971231
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
    Otsuka H; Sasai H; Nakama M; Aoyama Y; Abdelkreem E; Ohnishi H; Konstantopoulou V; Sass JO; Fukao T
    Mol Med Rep; 2016 Nov; 14(5):4906-4910. PubMed ID: 27748876
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
    Poeppel P; Habetha M; Marcão A; Büssow H; Berna L; Gieselmann V
    FEBS J; 2005 Mar; 272(5):1179-88. PubMed ID: 15720392
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
    Santoro M; Modoni A; Sabatelli M; Madia F; Piemonte F; Tozzi G; Ricci E; Tonali PA; Silvestri G
    Mol Genet Metab; 2007 May; 91(1):111-4. PubMed ID: 17251047
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
    Ikeda Y; Goji K; Takagi A
    Clin Sci (Lond); 2000 Dec; 99(6):569-78. PubMed ID: 11099402
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.