210 related articles for article (PubMed ID: 31943857)
1. 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]
2. Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.
Hoitsema K; Amato D; Khan A; Sirrs S; Choy FY
Meta Gene; 2016 Sep; 9():47-51. PubMed ID: 27222815
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
Choy FY; Humphries ML; Ferreira P
Am J Med Genet; 1997 Jan; 68(2):211-5. PubMed ID: 9028460
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
Orvisky E; Park JK; Parker A; Walker JM; Martin BM; Stubblefield BK; Uyama E; Tayebi N; Sidransky E
Hum Mutat; 2002 Apr; 19(4):458-9. PubMed ID: 11933202
[TBL] [Abstract][Full Text] [Related]
7. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
[TBL] [Abstract][Full Text] [Related]
8. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
Germain DP; Puech JP; Caillaud C; Kahn A; Poenaru L
Am J Hum Genet; 1998 Aug; 63(2):415-27. PubMed ID: 9683600
[TBL] [Abstract][Full Text] [Related]
9. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS; LaMarca ME; Scott CR; Sidransky E
Hum Mutat; 2008 May; 29(5):567-83. PubMed ID: 18338393
[TBL] [Abstract][Full Text] [Related]
10. Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Dominissini S; Buratti E; Bembi B; Baralle M; Pittis MG
Hum Mutat; 2006 Jan; 27(1):119. PubMed ID: 16329099
[TBL] [Abstract][Full Text] [Related]
11. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
Reissner K; Tayebi N; Stubblefield BK; Koprivica V; Blitzer M; Holleran W; Cowan T; Almashanu S; Maddalena A; Karson EM; Sidransky E
Mol Genet Metab; 1998 Apr; 63(4):281-8. PubMed ID: 9635296
[TBL] [Abstract][Full Text] [Related]
12. Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Mattošová S; Chandoga J; Hlavatá A; Saligová J; Maceková D
Isr Med Assoc J; 2015 Mar; 17(3):166-70. PubMed ID: 25946768
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis.
Finckh U; Seeman P; von Widdern OC; Rolfs A
DNA Seq; 1998; 8(6):349-56. PubMed ID: 10728820
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
Jack A; Amato D; Morris G; Choy FY
Gene; 2014 Mar; 538(1):84-7. PubMed ID: 24434810
[TBL] [Abstract][Full Text] [Related]
17. Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
Karaca E; Kalkan S; Onay H; Aykut A; Coker M; Ozkinay F
J Pediatr Endocrinol Metab; 2012; 25(9-10):957-62. PubMed ID: 23426826
[TBL] [Abstract][Full Text] [Related]
18. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
Goebl A; Ferrier RA; Ferreira P; Pinto-Rojas A; Matshes E; Choy FY
Pediatr Dev Pathol; 2011; 14(3):240-3. PubMed ID: 20946052
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
Cormand B; Grinberg D; Gort L; Chabás A; Vilageliu L
Hum Mutat; 1998; 11(4):295-305. PubMed ID: 9554746
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
