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137 related items for PubMed ID: 20721872
1. 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; 30(10):924-7. PubMed ID: 20721872 [Abstract] [Full Text] [Related]
4. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease. Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu LL. Prenat Diagn; 1998 Mar; 18(3):207-12. PubMed ID: 9556036 [Abstract] [Full Text] [Related]
5. [Acute infantile cerebral form of Gaucher disease]. Süss J. Geburtshilfe Frauenheilkd; 1991 Nov; 51(11):936-8. PubMed ID: 1773930 [Abstract] [Full Text] [Related]
6. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays. Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K. Mol Genet Metab; 2001 Mar; 72(3):248-53. PubMed ID: 11243731 [Abstract] [Full Text] [Related]
7. Prenatal panel screening considerations for non-neuronopathic Gaucher disease in the Ashkenazi-Jewish population. Kannai R, Chertok IR. Isr Med Assoc J; 2006 May; 8(5):347-50. PubMed ID: 16805236 [Abstract] [Full Text] [Related]
8. 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]
9. 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]
10. [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 Jun 01; 41(4):41-7. PubMed ID: 18030725 [Abstract] [Full Text] [Related]
11. 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 Jun 01; 38(3):287-93. PubMed ID: 17196853 [Abstract] [Full Text] [Related]
12. 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 01; 31(6):738-44. PubMed ID: 18979180 [Abstract] [Full Text] [Related]
13. 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]
14. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity]. Beĭer EM, Bukina TM, Tsvetkova IV. Vopr Med Khim; 2000 Jan 01; 46(5):451-4. PubMed ID: 11204625 [Abstract] [Full Text] [Related]
15. Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions. Borry P, Clarke A, Dierickx K. Eur J Hum Genet; 2008 Feb 01; 16(2):139-40. PubMed ID: 18043719 [No Abstract] [Full Text] [Related]
16. Mutation analysis of 28 Gaucher disease patients: the Australasian experience. Lewis BD, Nelson PV, Robertson EF, Morris CP. Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672 [Abstract] [Full Text] [Related]
17. 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 15; 23(3):415-6. PubMed ID: 9446756 [Abstract] [Full Text] [Related]
18. Enzyme, substrate, and myeloma in Gaucher disease. Hughes DA. Am J Hematol; 2009 Apr 15; 84(4):199-201. PubMed ID: 19291728 [No Abstract] [Full Text] [Related]
19. 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 15; 10(9):511-5. PubMed ID: 12173027 [Abstract] [Full Text] [Related]
20. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion. Beutler E, Gelbart T. Hum Mutat; 1994 Sep 15; 4(3):212-6. PubMed ID: 7833951 [Abstract] [Full Text] [Related] Page: [Next] [New Search]