BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 12605057)

  • 21. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
    Germain DP; Poenaru L
    Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report.
    Hewavitharana H; Jasinge E; Abeysekera H; Wanigasinghe J
    BMC Pediatr; 2020 Jul; 20(1):338. PubMed ID: 32641113
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.
    Van Loo A; Vanholder R; Madsen K; Praet M; Kint J; De Paepe A; Messiaen L; Lameire N; Hasholt L; Sørensen SA; Ringoir S
    Am J Nephrol; 1996; 16(4):352-7. PubMed ID: 8739292
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of four novel mutations in five unrelated Korean families with Fabry disease.
    Lee JK; Kim GH; Kim JS; Kim KK; Lee MC; Yoo HW
    Clin Genet; 2000 Sep; 58(3):228-33. PubMed ID: 11076046
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
    Sakuraba H
    Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A heterozygous female with Fabry disease due to a novel α-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
    Takahashi N; Yokoi S; Kasuno K; Kogami A; Tsukimura T; Togawa T; Saito S; Ohno K; Hara M; Kurosawa H; Hirayama Y; Kurose T; Yokoyama Y; Mikami D; Kimura H; Naiki H; Sakuraba H; Iwano M
    Clin Nephrol; 2015 May; 83(5):301-8. PubMed ID: 25295576
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.
    Ro LS; Chen CM; Chang HS; Lyu RK; Wu YR; Hsu WC; Lee-Chen GJ
    Eur J Neurol; 2007 May; 14(5):493-7. PubMed ID: 17437606
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
    Sakuraba H; Eng CM; Desnick RJ; Bishop DF
    Genomics; 1992 Apr; 12(4):643-50. PubMed ID: 1315304
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
    Okumiya T; Kawamura O; Itoh K; Kase R; Ishii S; Kamei S; Sakuraba H
    Hum Mutat; 1998; Suppl 1():S213-6. PubMed ID: 9452090
    [No Abstract]   [Full Text] [Related]  

  • 30. Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.
    Matsumura T; Osaka H; Sugiyama N; Kawanishi C; Maruyama Y; Suzuki K; Onishi H; Yamada Y; Morita M; Aoki M; Kosaka K
    Hum Mutat; 1998; 11(6):483. PubMed ID: 10200059
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification of mutations in Colombian patients affected with Fabry disease.
    Uribe A; Mateus HE; Prieto JC; Palacios MF; Ospina SY; Pasqualim G; da Silveira Matte U; Giugliani R
    Gene; 2015 Dec; 574(2):325-9. PubMed ID: 26297554
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
    Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
    Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
    Choi JS; Kim CS; Park JW; Bae EH; Ma SK; Choi YD; Kim GH; Yoo HW; Kim SW
    Ren Fail; 2012; 34(3):390-3. PubMed ID: 22260214
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
    Filoni C; Caciotti A; Carraresi L; Donati MA; Mignani R; Parini R; Filocamo M; Soliani F; Simi L; Guerrini R; Zammarchi E; Morrone A
    Eur J Hum Genet; 2008 Nov; 16(11):1311-7. PubMed ID: 18560446
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
    Ishii S; Nakao S; Minamikawa-Tachino R; Desnick RJ; Fan JQ
    Am J Hum Genet; 2002 Apr; 70(4):994-1002. PubMed ID: 11828341
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
    Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
    Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
    Bernstein HS; Bishop DF; Astrin KH; Kornreich R; Eng CM; Sakuraba H; Desnick RJ
    J Clin Invest; 1989 Apr; 83(4):1390-9. PubMed ID: 2539398
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
    Ge W; Wei B; Zhu H; Miao Z; Zhang W; Leng C; Li J; Zhang D; Sun M; Xu X
    Int J Neurosci; 2017 May; 127(5):448-453. PubMed ID: 27211852
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
    Altarescu GM; Goldfarb LG; Park KY; Kaneski C; Jeffries N; Litvak S; Nagle JW; Schiffmann R
    Clin Genet; 2001 Jul; 60(1):46-51. PubMed ID: 11531969
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease.
    Miller JJ; Aoki K; Reid CA; Tiemeyer M; Dahms NM; Kassem IS
    Sci Rep; 2019 Jun; 9(1):9392. PubMed ID: 31253878
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.