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132 related items for PubMed ID: 15857183

  • 1. 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; 9(1):26-9. PubMed ID: 15857183
    [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. 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 Dec; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

  • 4. 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; 90(1):81-6. PubMed ID: 16996765
    [Abstract] [Full Text] [Related]

  • 5. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA.
    Genet Test; 1997 Jan; 1(1):5-12. PubMed ID: 10464619
    [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 Jan; 12(4):240-4. PubMed ID: 9744474
    [Abstract] [Full Text] [Related]

  • 7. 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; 53(3):387-95. PubMed ID: 12595585
    [Abstract] [Full Text] [Related]

  • 8. 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; 52(6):1094-101. PubMed ID: 8503443
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  • 11. Gaucher disease in Arab patients at an Israeli referral clinic.
    Brautbar A, Abrahamov A, Hadas-Halpern I, Elstein D, Zimran A.
    Isr Med Assoc J; 2008 Jun; 10(8-9):600-2. PubMed ID: 18847161
    [Abstract] [Full Text] [Related]

  • 12. The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
    Brautbar A, Elstein D, Abrahamov A, Zeigler M, Chicco G, Beutler E, Scott CR, Zimran A.
    Blood Cells Mol Dis; 2003 Jun; 31(2):187-9; discussion 190-1. PubMed ID: 12972024
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  • 14. 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]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. 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; 84(4):208-14. PubMed ID: 19260119
    [Abstract] [Full Text] [Related]

  • 17. Gaucher disease: pediatric concerns.
    Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A.
    Paediatr Drugs; 2002 Apr; 4(7):417-26. PubMed ID: 12083970
    [Abstract] [Full Text] [Related]

  • 18. 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; 3(1):25-8. PubMed ID: 8118463
    [Abstract] [Full Text] [Related]

  • 19. Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease.
    Magal I, Lebel E, Altarescu G, Itzchaki M, Rudensky B, Foldes AJ, Zimran A, Elstein D.
    Br J Haematol; 2006 Apr; 133(1):93-7. PubMed ID: 16512834
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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