137 related articles for article (PubMed ID: 2831042)
1. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
Desnick RJ; Bernstein HS; Astrin KH; Bishop DF
Enzyme; 1987; 38(1-4):54-64. PubMed ID: 2831042
[TBL] [Abstract][Full Text] [Related]
2. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
[TBL] [Abstract][Full Text] [Related]
3. Fabry disease: molecular genetics of the inherited nephropathy.
Desnick RJ; Astrin KH; Bishop DF
Adv Nephrol Necker Hosp; 1989; 18():113-27. PubMed ID: 2564247
[TBL] [Abstract][Full Text] [Related]
4. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Bernstein HS; Bishop DF; Astrin KH; Kornreich R; Eng CM; Sakuraba H; Desnick RJ
J Clin Invest; 1989 Apr; 83(4):1390-9. PubMed ID: 2539398
[TBL] [Abstract][Full Text] [Related]
5. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.
Kirkilionis AJ; Riddell DC; Spence MW; Fenwick RG
J Med Genet; 1991 Apr; 28(4):232-40. PubMed ID: 1677424
[TBL] [Abstract][Full Text] [Related]
6. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
Kornreich R; Bishop DF; Desnick RJ
J Biol Chem; 1990 Jun; 265(16):9319-26. PubMed ID: 2160973
[TBL] [Abstract][Full Text] [Related]
7. Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A.
Kornreich R; Astrin KH; Desnick RJ
Genomics; 1992 May; 13(1):70-4. PubMed ID: 1349583
[TBL] [Abstract][Full Text] [Related]
8. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
Caggana M; Ashley GA; Desnick RJ; Eng CM
Am J Med Genet; 1997 Aug; 71(3):329-35. PubMed ID: 9268104
[TBL] [Abstract][Full Text] [Related]
9. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
Sakuraba H
Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
[TBL] [Abstract][Full Text] [Related]
10. Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.
MacDermot KD; Morgan SH; Cheshire JK; Wilson TM
Hum Genet; 1987 Nov; 77(3):263-6. PubMed ID: 2890570
[TBL] [Abstract][Full Text] [Related]
11. Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
Kornreich R; Desnick RJ
Hum Mutat; 1993; 2(2):108-11. PubMed ID: 8318986
[TBL] [Abstract][Full Text] [Related]
12. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM; Desnick RJ
Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
[TBL] [Abstract][Full Text] [Related]
13. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
[TBL] [Abstract][Full Text] [Related]
14. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
Ashton-Prolla P; Ashley GA; Giugliani R; Pires RF; Desnick RJ; Eng CM
Am J Med Genet; 1999 Jun; 84(5):420-4. PubMed ID: 10360396
[TBL] [Abstract][Full Text] [Related]
16. Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
Sheth KJ; Good TA; Murphy JV
Am J Med Genet; 1981; 10(2):141-6. PubMed ID: 6274191
[TBL] [Abstract][Full Text] [Related]
17. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu AK; Ashley GA; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
Mol Med; 1999 Dec; 5(12):806-11. PubMed ID: 10666480
[TBL] [Abstract][Full Text] [Related]
18. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng CM; Ashley GA; Burgert TS; Enriquez AL; D'Souza M; Desnick RJ
Mol Med; 1997 Mar; 3(3):174-82. PubMed ID: 9100224
[TBL] [Abstract][Full Text] [Related]
19. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
Tuttolomondo A; Duro G; Miceli S; Di Raimondo D; Pecoraro R; Serio A; Albeggiani G; Nuzzo D; Iemolo F; Pizzo F; Sciarrino S; Licata G; Pinto A
Clin Biochem; 2012 Nov; 45(16-17):1525-30. PubMed ID: 22820434
[TBL] [Abstract][Full Text] [Related]
20. Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Sakuraba H; Eng CM; Desnick RJ; Bishop DF
Genomics; 1992 Apr; 12(4):643-50. PubMed ID: 1315304
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]