These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 20307947)

  • 1. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients.
    Kraoua I; Sedel F; Caillaud C; Froissart R; Stirnemann J; Chaurand G; Flodrops H; Tari S; Gourfinkel-An I; Mathieu S; Belmatoug N; Billette de Villemeur T; Mignot C
    Brain Dev; 2011 Feb; 33(2):131-9. PubMed ID: 20307947
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 38(3):287-93. PubMed ID: 17196853
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 42(6):e37. PubMed ID: 15937077
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].
    Ben Turkia H; Riahi I; Azzouz H; Ladab S; Cherif W; Ben Chehida A; Abdelmoula MS; Caillaud C; Chemli J; Abdelhak S; Tebib N; Ben Dridi MF
    Tunis Med; 2010 Mar; 88(3):158-62. PubMed ID: 20415187
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 50(1):74-8. PubMed ID: 8160756
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.
    Pastores GM
    Curr Opin Investig Drugs; 2010 Apr; 11(4):472-8. PubMed ID: 20336596
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy.
    Kauli R; Zaizov R; Lazar L; Pertzelan A; Laron Z; Galatzer A; Phillip M; Yaniv Y; Cohen IJ
    Isr Med Assoc J; 2000 Feb; 2(2):158-63. PubMed ID: 10804944
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A; Gort L; Díaz-Font A; Montfort M; Santamaría R; Cidrás M; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P; Keeratichamroen S; Wattanasirichaigoon D; Ngiwsara L; Cairns JR; Svasti J; Visudtibhan A; Pangkanon S
    Blood Cells Mol Dis; 2007; 39(3):348-52. PubMed ID: 17689991
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
    Beĭer EM; Bukina TM; Tsvetkova IV
    Vopr Med Khim; 2000; 46(5):451-4. PubMed ID: 11204625
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG; Hollak CE; Verhoek M; Sloof P; Poorthuis BJ; Kleijer WJ; Wevers RA; van Oers MH; Mannens MM; Aerts JM; van Weely S
    Hum Mutat; 1997; 10(5):348-58. PubMed ID: 9375849
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
    Alfonso P; Pampín S; García-Rodríguez B; Tejedor T; Domínguez C; Rodríguez-Rey JC; Giraldo P; Pocoví M
    Clin Chim Acta; 2011 Jan; 412(3-4):365-9. PubMed ID: 21087600
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
    Elstein D; Cohn GM; Wang N; Djordjevic M; Brutaru C; Zimran A
    Blood Cells Mol Dis; 2011 Jan; 46(1):119-23. PubMed ID: 20727796
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.
    Whitfield PD; Nelson P; Sharp PC; Bindloss CA; Dean C; Ravenscroft EM; Fong BA; Fietz MJ; Hopwood JJ; Meikle PJ
    Mol Genet Metab; 2002 Jan; 75(1):46-55. PubMed ID: 11825063
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma.
    Yağci B; Salor O; Yalçin B; Gürakan F; Güçer S; Büyükpamukçu M
    Pediatr Blood Cancer; 2009 Jul; 52(7):870-1. PubMed ID: 19213078
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.
    Fujimoto A; Tayebi N; Sidransky E
    Am J Med Genet; 1995 Nov; 59(3):356-8. PubMed ID: 8599361
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
    Goker-Alpan O; Schiffmann R; Park JK; Stubblefield BK; Tayebi N; Sidransky E
    J Pediatr; 2003 Aug; 143(2):273-6. PubMed ID: 12970647
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Editorial: Gaucher disease.
    Mikosch P
    Wien Med Wochenschr; 2010 Dec; 160(23-24):593. PubMed ID: 21221910
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.