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Journal Abstract Search

185 related items for PubMed ID: 16644399

  • 1. Phenotype variations in Gaucher disease.
    Mistry P, Germain DP.
    Rev Med Interne; 2006 Mar; 27 Suppl 1():S3-10. PubMed ID: 16644399
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
    Fairley C, Zimran A, Phillips M, Cizmarik M, Yee J, Weinreb N, Packman S.
    J Inherit Metab Dis; 2008 Dec; 31(6):738-44. PubMed ID: 18979180
    [Abstract] [Full Text] [Related]

  • 3. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A, Horowitz M.
    Am J Med Genet; 1994 Mar 01; 50(1):74-8. PubMed ID: 8160756
    [Abstract] [Full Text] [Related]

  • 4. Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?
    Eitan Y, Abrahamov A, Phillips M, Elstein D, Zimran A.
    Prenat Diagn; 2010 Oct 01; 30(10):924-7. PubMed ID: 20721872
    [Abstract] [Full Text] [Related]

  • 5. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
    Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA.
    Am J Hum Genet; 1993 Jun 01; 52(6):1094-101. PubMed ID: 8503443
    [Abstract] [Full Text] [Related]

  • 6. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    Elstein D, Scott CR, Zeigler M, Abrahamov A, Zimran A.
    Genet Test; 2005 Jun 01; 9(1):26-9. PubMed ID: 15857183
    [Abstract] [Full Text] [Related]

  • 7. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Jun 01; 1(1):5-12. PubMed ID: 10464619
    [Abstract] [Full Text] [Related]

  • 8. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.
    Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK.
    Am J Hematol; 2009 Apr 01; 84(4):208-14. PubMed ID: 19260119
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E, Pires RF, Cizmarik M, Grabowski GA.
    Mol Genet Metab; 2007 Jan 01; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 10. Divergent phenotypes in Gaucher disease implicate the role of modifiers.
    Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.
    J Med Genet; 2005 Jun 01; 42(6):e37. PubMed ID: 15937077
    [Abstract] [Full Text] [Related]

  • 11. [Gaucher disease: importance of early diagnosis and therapy].
    Simon G, Erdos M, Maródi L, Tóth J.
    Orv Hetil; 2008 Apr 20; 149(16):743-50. PubMed ID: 18426721
    [Abstract] [Full Text] [Related]

  • 12. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
    Sidransky E, Bottler A, Stubblefield B, Ginns EI.
    Hum Mutat; 1994 Apr 20; 3(1):25-8. PubMed ID: 8118463
    [Abstract] [Full Text] [Related]

  • 13. 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 Apr 20; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 14. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
    Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI.
    Proc Natl Acad Sci U S A; 1988 Apr 20; 85(7):2349-52. PubMed ID: 3353383
    [Abstract] [Full Text] [Related]

  • 15. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Apr 20; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 16. 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 20; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 17. Gaucher disease associated with parkinsonism: four further case reports.
    Várkonyi J, Rosenbaum H, Baumann N, MacKenzie JJ, Simon Z, Aharon-Peretz J, Walker JM, Tayebi N, Sidransky E.
    Am J Med Genet A; 2003 Feb 01; 116A(4):348-51. PubMed ID: 12522789
    [Abstract] [Full Text] [Related]

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  • 19. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
    Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.
    Pediatr Res; 2003 Mar 01; 53(3):387-95. PubMed ID: 12595585
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