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 *

369 related articles for article (PubMed ID: 20880730)

  • 1. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
    Gupta N; Oppenheim IM; Kauvar EF; Tayebi N; Sidransky E
    Blood Cells Mol Dis; 2011 Jan; 46(1):75-84. PubMed ID: 20880730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
    Daykin EC; Ryan E; Sidransky E
    Mol Genet Metab; 2021 Feb; 132(2):49-58. PubMed ID: 33483255
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Glucocerebrosidase is shaking up the synucleinopathies.
    Siebert M; Sidransky E; Westbroek W
    Brain; 2014 May; 137(Pt 5):1304-22. PubMed ID: 24531622
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
    Gleason AM; D'Souza A; Ryan E; Grochowsky AR; Carter CR; Goker-Alpan O; Lopez G; Tayebi N; Sidransky E
    Am J Med Genet A; 2023 Jul; 191(7):1783-1791. PubMed ID: 37042183
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The clinical management of Type 2 Gaucher disease.
    Weiss K; Gonzalez A; Lopez G; Pedoeim L; Groden C; Sidransky E
    Mol Genet Metab; 2015 Feb; 114(2):110-122. PubMed ID: 25435509
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
    Kang L; Wang Y; Gao X; Qiu W; Ye J; Han L; Gu X; Zhang H
    Brain Dev; 2018 Nov; 40(10):876-883. PubMed ID: 29934114
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High-risk screening for Gaucher disease in patients with neurological symptoms.
    Momosaki K; Kido J; Matsumoto S; Yoshida S; Takei A; Miyabayashi T; Sugawara K; Endo F; Nakamura K
    J Hum Genet; 2018 Jun; 63(6):717-721. PubMed ID: 29602947
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
    Hagege E; Grey RJ; Lopez G; Roshan Lal T; Sidransky E; Tayebi N
    Am J Med Genet A; 2017 Dec; 173(12):3211-3215. PubMed ID: 29091352
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E
    Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
    Lepe-Balsalobre E; Santotoribio JD; Nuñez-Vazquez R; García-Morillo S; Jiménez-Arriscado P; Hernández-Arévalo P; Delarosa-Rodríguez R; Guerrero JM; Macher HC
    Clin Chem Lab Med; 2020 Jun; 58(12):2017-2024. PubMed ID: 32589593
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
    Alfonso P; Aznarez S; Giralt M; Pocovi M; Giraldo P;
    J Hum Genet; 2007; 52(5):391-396. PubMed ID: 17427031
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

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

  • 14. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
    Tayebi N; Reissner KJ; Lau EK; Stubblefield BK; Klineburgess AC; Martin BM; Sidransky E
    Pediatr Res; 1998 May; 43(5):571-8. PubMed ID: 9585001
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Gaucher disease: clinical, genetic and therapeutic aspects].
    Germain DP
    Pathol Biol (Paris); 2004 Jul; 52(6):343-50. PubMed ID: 15261378
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurological effects of glucocerebrosidase gene mutations.
    Mullin S; Hughes D; Mehta A; Schapira AHV
    Eur J Neurol; 2019 Mar; 26(3):388-e29. PubMed ID: 30315684
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
    Furderer ML; Hertz E; Lopez GJ; Sidransky E
    Int J Mol Sci; 2022 May; 23(10):. PubMed ID: 35628652
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Assessment of cellular cobalamin metabolism in Gaucher disease.
    Basgalupp SP; Siebert M; Ferreira C; Behringer S; Spiekerkoetter U; Hannibal L; Schwartz IVD
    BMC Med Genet; 2020 Jan; 21(1):12. PubMed ID: 31931749
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
    Tayebi N; Callahan M; Madike V; Stubblefield BK; Orvisky E; Krasnewich D; Fillano JJ; Sidransky E
    Mol Genet Metab; 2001 Aug; 73(4):313-21. PubMed ID: 11509013
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.