226 related articles for article (PubMed ID: 10464620)
21. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.
Shahrabani-Gargir L; Shomrat R; Yaron Y; Orr-Urtreger A; Groden J; Legum C
Genet Test; 1998; 2(4):293-6. PubMed ID: 10464606
[TBL] [Abstract][Full Text] [Related]
22. Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares F; Badarneh K; Abosaleh M; Harari-Shaham A; Diukman R; David M
Prenat Diagn; 2008 Mar; 28(3):236-41. PubMed ID: 18264947
[TBL] [Abstract][Full Text] [Related]
23. Cystic fibrosis in Jews: frequency and mutation distribution.
Kerem B; Chiba-Falek O; Kerem E
Genet Test; 1997; 1(1):35-9. PubMed ID: 10464623
[TBL] [Abstract][Full Text] [Related]
24. Fanconi anemia: genetic testing in Ashkenazi Jews.
Auerbach AD
Genet Test; 1997; 1(1):27-33. PubMed ID: 10464622
[TBL] [Abstract][Full Text] [Related]
25. Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Ricci V; Stroppiano M; Corsolini F; Di Rocco M; Parenti G; Regis S; Grossi S; Biancheri R; Mazzotti R; Filocamo M
Hum Mutat; 2004 Jul; 24(1):105. PubMed ID: 15221801
[TBL] [Abstract][Full Text] [Related]
26. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.
Schuchman EH
Int J Clin Pharmacol Ther; 2009; 47 Suppl 1():S48-57. PubMed ID: 20040312
[TBL] [Abstract][Full Text] [Related]
27. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE; de Sonnaville ES; Cassiman D; Linthorst GE; Groener JE; Morava E; Wevers RA; Mannens M; Aerts JM; Meersseman W; Akkerman E; Niezen-Koning KE; Mulder MF; Visser G; Wijburg FA; Lefeber D; Poorthuis BJ
Mol Genet Metab; 2012 Nov; 107(3):526-33. PubMed ID: 22818240
[TBL] [Abstract][Full Text] [Related]
28. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Rodríguez-Pascau L; Gort L; Schuchman EH; Vilageliu L; Grinberg D; Chabás A
Hum Mutat; 2009 Jul; 30(7):1117-22. PubMed ID: 19405096
[TBL] [Abstract][Full Text] [Related]
29. Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
Irun P; Mallén M; Dominguez C; Rodriguez-Sureda V; Alvarez-Sala LA; Arslan N; Bermejo N; Guerrero C; Perez de Soto I; Villalón L; Giraldo P; Pocovi M
Clin Genet; 2013 Oct; 84(4):356-61. PubMed ID: 23252888
[TBL] [Abstract][Full Text] [Related]
30. Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Cerón-Rodríguez M; Vázquez-Martínez ER; García-Delgado C; Ortega-Vázquez A; Valencia-Mayoral P; Ramírez-Devars L; Arias-Villegas C; Monroy-Muñoz IE; López M; Cervantes A; Cerbón M; Morán-Barroso VF
Ann Hepatol; 2019; 18(4):613-619. PubMed ID: 31122880
[TBL] [Abstract][Full Text] [Related]
31. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Tirelli C; Rondinone O; Italia M; Mira S; Belmonte LA; De Grassi M; Guido G; Maggioni S; Mondoni M; Miozzo MR; Centanni S
Biomolecules; 2024 Feb; 14(2):. PubMed ID: 38397448
[TBL] [Abstract][Full Text] [Related]
32. Gaucher disease: gene frequencies and genotype/phenotype correlations.
Grabowski GA
Genet Test; 1997; 1(1):5-12. PubMed ID: 10464619
[TBL] [Abstract][Full Text] [Related]
33. Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.
Verlander PC; Kaporis A; Liu Q; Zhang Q; Seligsohn U; Auerbach AD
Blood; 1995 Dec; 86(11):4034-8. PubMed ID: 7492758
[TBL] [Abstract][Full Text] [Related]
34. Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV.
Wang ZH; Zeng B; Pastores GM; Raksadawan N; Ong E; Kolodny EH
Genet Test; 2001; 5(2):87-92. PubMed ID: 11551108
[TBL] [Abstract][Full Text] [Related]
35. Canavan disease: diagnosis and molecular analysis.
Matalon R
Genet Test; 1997; 1(1):21-5. PubMed ID: 10464621
[TBL] [Abstract][Full Text] [Related]
36. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.
Roa BB; Boyd AA; Volcik K; Richards CS
Nat Genet; 1996 Oct; 14(2):185-7. PubMed ID: 8841191
[TBL] [Abstract][Full Text] [Related]
37. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
Horinouchi K; Erlich S; Perl DP; Ferlinz K; Bisgaier CL; Sandhoff K; Desnick RJ; Stewart CL; Schuchman EH
Nat Genet; 1995 Jul; 10(3):288-93. PubMed ID: 7670466
[TBL] [Abstract][Full Text] [Related]
38. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
Horowitz M; Pasmanik-Chor M; Borochowitz Z; Falik-Zaccai T; Heldmann K; Carmi R; Parvari R; Beit-Or H; Goldman B; Peleg L; Levy-Lahad E; Renbaum P; Legum S; Shomrat R; Yeger H; Benbenisti D; Navon R; Dror V; Shohat M; Magal N; Navot N; Eyal N
Hum Mutat; 1998; 12(4):240-4. PubMed ID: 9744474
[TBL] [Abstract][Full Text] [Related]
39. Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.
Vanier MT; Ferlinz K; Rousson R; Duthel S; Louisot P; Sandhoff K; Suzuki K
Hum Genet; 1993 Oct; 92(4):325-30. PubMed ID: 8225311
[TBL] [Abstract][Full Text] [Related]
40. Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
Kavčič A; Homan M; Živanović M; Debeljak M; Butenko T; Drole Torkar A; Žerjav Tanšek M; Bertok S; Battelino T; Groselj U
Am J Case Rep; 2022 Nov; 23():e937220. PubMed ID: 36333862
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
