BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

315 related articles for article (PubMed ID: 10777718)

  • 1. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
    Diaz GA; Gelb BD; Risch N; Nygaard TG; Frisch A; Cohen IJ; Miranda CS; Amaral O; Maire I; Poenaru L; Caillaud C; Weizberg M; Mistry P; Desnick RJ
    Am J Hum Genet; 2000 Jun; 66(6):1821-32. PubMed ID: 10777718
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.
    Colombo R
    Am J Hum Genet; 2000 Feb; 66(2):692-7. PubMed ID: 10677327
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
    Rockah R; Narinsky R; Frydman M; Cohen IJ; Zaizov R; Weizman A; Frisch A
    Am J Med Genet; 1998 Jul; 78(3):233-6. PubMed ID: 9677056
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.
    Díaz A; Montfort M; Cormand B; Zeng B; Pastores GM; Chabás A; Vilageliu L; Grinberg D
    Am J Hum Genet; 1999 Apr; 64(4):1233-8. PubMed ID: 10090913
    [No Abstract]   [Full Text] [Related]  

  • 5. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.
    Rodríguez-Marí A; Díaz-Font A; Chabás A; Pastores GM; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2001; 27(5):950-9. PubMed ID: 11783960
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
    Horowitz M; Pasmanik-Chor M; Borochowitz Z; Falik-Zaccai T; Heldmann K; Carmi R; Parvari R; Beit-Or H; Goldman B; Peleg L; Levy-Lahad E; Renbaum P; Legum S; Shomrat R; Yeger H; Benbenisti D; Navon R; Dror V; Shohat M; Magal N; Navot N; Eyal N
    Hum Mutat; 1998; 12(4):240-4. PubMed ID: 9744474
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA
    Genet Test; 1997; 1(1):5-12. PubMed ID: 10464619
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.
    Frisch A; Colombo R; Michaelovsky E; Karpati M; Goldman B; Peleg L
    Hum Genet; 2004 Mar; 114(4):366-76. PubMed ID: 14727180
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B; Grinberg D; Gort L; Chabás A; Vilageliu L
    Hum Mutat; 1998; 11(4):295-305. PubMed ID: 9554746
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
    Lau EK; Tayebi N; Ingraham LJ; Winfield SL; Koprivica V; Stone DL; Zimran A; Ginns EI; Sidransky E
    Hum Genet; 1999 Apr; 104(4):293-300. PubMed ID: 10369158
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
    Zeevi DA; Altarescu G; Weinberg-Shukron A; Zahdeh F; Dinur T; Chicco G; Herskovitz Y; Renbaum P; Elstein D; Levy-Lahad E; Rolfs A; Zimran A
    J Clin Invest; 2015 Oct; 125(10):3757-65. PubMed ID: 26426075
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
    Durst R; Colombo R; Shpitzen S; Avi LB; Friedlander Y; Wexler R; Raal FJ; Marais DA; Defesche JC; Mandelshtam MY; Kotze MJ; Leitersdorf E; Meiner V
    Am J Hum Genet; 2001 May; 68(5):1172-88. PubMed ID: 11309683
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C; Procopciuc L; Jebeleanu G; Grigorescu-Sido P; Dussau J; Poenaru L; Caillaud C
    Eur J Hum Genet; 2002 Sep; 10(9):511-5. PubMed ID: 12173027
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.
    Amaral O; Marcão A; Pinto E; Zimran A; Miranda MC
    Blood Cells Mol Dis; 1997 Dec; 23(3):415-6. PubMed ID: 9446756
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
    Horovenko NH; Ol'khovych NV; Nedoboĭ AM; Pichkur NO
    Tsitol Genet; 2007; 41(4):41-7. PubMed ID: 18030725
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
    Koprivica V; Stone DL; Park JK; Callahan M; Frisch A; Cohen IJ; Tayebi N; Sidransky E
    Am J Hum Genet; 2000 Jun; 66(6):1777-86. PubMed ID: 10796875
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.
    Valente EM; Povey S; Warner TT; Wood NW; Davis MB
    Ann Hum Genet; 1999 Jan; 63(Pt 1):1-8. PubMed ID: 10738516
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Children with type 1 Gaucher disease: Changing profiles in the 21st century.
    Elstein D; Altarescu G; Abrahamov A; Zimran A
    Blood Cells Mol Dis; 2018 Feb; 68():93-96. PubMed ID: 28185830
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Age at Onset of Parkinson's Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.
    Yahalom G; Rigbi A; Israeli-Korn S; Krohn L; Rudakou U; Ruskey JA; Benshimol L; Tsafnat T; Gan-Or Z; Hassin-Baer S; Greenbaum L
    J Parkinsons Dis; 2020; 10(3):1123-1132. PubMed ID: 32310186
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.
    Demina A; Boas E; Beutler E
    Hematopathol Mol Hematol; 1998; 11(2):63-71. PubMed ID: 9608355
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.