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 *

218 related articles for article (PubMed ID: 30764785)

  • 1. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
    Sheth J; Bhavsar R; Mistri M; Pancholi D; Bavdekar A; Dalal A; Ranganath P; Girisha KM; Shukla A; Phadke S; Puri R; Panigrahi I; Kaur A; Muranjan M; Goyal M; Ramadevi R; Shah R; Nampoothiri S; Danda S; Datar C; Kapoor S; Bhatwadekar S; Sheth F
    BMC Med Genet; 2019 Feb; 20(1):31. PubMed ID: 30764785
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
    Sheth J; Pancholi D; Mistri M; Nath P; Ankleshwaria C; Bhavsar R; Puri R; Phadke S; Sheth F
    BMC Med Genet; 2018 Oct; 19(1):178. PubMed ID: 30285649
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
    Burke DG; Rahim AA; Waddington SN; Karlsson S; Enquist I; Bhatia K; Mehta A; Vellodi A; Heales S
    J Inherit Metab Dis; 2013 Sep; 36(5):869-72. PubMed ID: 23151684
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
    Ankleshwaria C; Mistri M; Bavdekar A; Muranjan M; Dave U; Tamhankar P; Khanna V; Jasinge E; Nampoothiri S; Edayankara Kadangot S; Sheth F; Gupta S; Sheth J
    J Hum Genet; 2014 Apr; 59(4):223-8. PubMed ID: 24522292
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H
    Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596
    [TBL] [Abstract][Full Text] [Related]  

  • 7. High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
    Huang Y; Jia X; Tang C; Liu S; Sheng H; Zhao X; Zeng C; Liu L
    Clin Chim Acta; 2020 Jul; 506():22-27. PubMed ID: 32165122
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and molecular characteristics of patients with Gaucher disease in Southern China.
    Feng Y; Huang Y; Tang C; Hu H; Zhao X; Sheng H; Zhang W; Tan M; Xie T; Zheng J; Liu Z; Su X; Shao Y; Li X; Cheng J; Mao X; Liu L
    Blood Cells Mol Dis; 2018 Feb; 68():30-34. PubMed ID: 27865684
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
    Zhang JH; Chen H; Ruan DD; Chen Y; Zhang L; Gao MZ; Chen Q; Yu HP; Wu JY; Lin XF; Fang ZT; Zheng XL; Luo JW; Liao LS; Li H
    Ann Hematol; 2024 May; 103(5):1765-1774. PubMed ID: 38509388
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The relationship between glucocerebrosidase mutations and Parkinson disease.
    Migdalska-Richards A; Schapira AH
    J Neurochem; 2016 Oct; 139 Suppl 1(Suppl Suppl 1):77-90. PubMed ID: 26860875
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
    Basgalupp SP; Siebert M; Vairo FPE; Chami AM; Pinto LLC; Carvalho GDS; Schwartz IVD
    Blood Cells Mol Dis; 2018 Feb; 68():17-20. PubMed ID: 27825739
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease.
    Liu LY; Liu F; Du SC; Jiang SY; Wang HJ; Zhang J; Wang W; Ma D
    Chin Med J (Engl); 2016 May; 129(9):1072-7. PubMed ID: 27098793
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
    Malekkou A; Sevastou I; Mavrikiou G; Georgiou T; Vilageliu L; Moraitou M; Michelakakis H; Prokopiou C; Drousiotou A
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1090. PubMed ID: 31943857
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
    Duran R; Mencacci NE; Angeli AV; Shoai M; Deas E; Houlden H; Mehta A; Hughes D; Cox TM; Deegan P; Schapira AH; Lees AJ; Limousin P; Jarman PR; Bhatia KP; Wood NW; Hardy J; Foltynie T
    Mov Disord; 2013 Feb; 28(2):232-236. PubMed ID: 23225227
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
    Torralba MA; Alfonso P; Pérez-Calvo JI; Cenarro A; Pastores GM; Giraldo P; Civeira F; Pocoví M
    Blood Cells Mol Dis; 2002; 29(1):35-40. PubMed ID: 12482401
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
    Pomponio RJ; Cabrera-Salazar MA; Echeverri OY; Miller G; Barrera LA
    Mol Genet Metab; 2005 Dec; 86(4):466-72. PubMed ID: 16185907
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease.
    Horowitz M; Braunstein H; Zimran A; Revel-Vilk S; Goker-Alpan O
    Adv Drug Deliv Rev; 2022 Aug; 187():114402. PubMed ID: 35764179
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
    Dinur T; Bauer P; Beetz C; Kramp G; Cozma C; Iurașcu MI; Becker-Cohen M; Istaiti M; Rolfs A; Zimran A; Revel-Vilk S
    Int J Mol Sci; 2022 Jan; 23(3):. PubMed ID: 35163551
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.