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Results: 1 to 20 of 591

1.

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.

PMID:
10916280
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
10666480
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

Germain DP, Shabbeer J, Cotigny S, Desnick RJ.

Mol Med. 2002 Jun;8(6):306-12.

PMID:
12428061
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
9100224
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
7504405
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.

Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ.

J Hum Genet. 2001;46(4):192-6. Review.

PMID:
11322659
[PubMed - indexed for MEDLINE]
7.

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ.

Hum Mol Genet. 1994 Oct;3(10):1795-9.

PMID:
7531540
[PubMed - indexed for MEDLINE]
8.

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. Review.

PMID:
7911050
[PubMed - indexed for MEDLINE]
9.

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.

Shabbeer J, Yasuda M, Luca E, Desnick RJ.

Mol Genet Metab. 2002 May;76(1):23-30.

PMID:
12175777
[PubMed - indexed for MEDLINE]
10.
11.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
12.

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, Desnick RJ.

Eur J Hum Genet. 1996;4(4):219-24.

PMID:
8875188
[PubMed - indexed for MEDLINE]
13.

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litvak S, Nagle JW, Schiffmann R.

Clin Genet. 2001 Jul;60(1):46-51.

PMID:
11531969
[PubMed - indexed for MEDLINE]
14.

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

Shabbeer J, Robinson M, Desnick RJ.

Hum Mutat. 2005 Mar;25(3):299-305.

PMID:
15712228
[PubMed - indexed for MEDLINE]
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 11;84(5):420-4.

PMID:
10360396
[PubMed - indexed for MEDLINE]
16.

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 21;257(3):708-13.

PMID:
10208848
[PubMed - indexed for MEDLINE]
17.

Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.

Desnick RJ, Bernstein HS, Astrin KH, Bishop DF.

Enzyme. 1987;38(1-4):54-64.

PMID:
2831042
[PubMed - indexed for MEDLINE]
18.

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ.

Hum Mutat. 2003 Dec;22(6):486-92.

PMID:
14635108
[PubMed - indexed for MEDLINE]
19.

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

Yang CC, Lai LW, Whitehair O, Hwu WL, Chiang SC, Lien YH.

Clin Genet. 2003 Mar;63(3):205-9.

PMID:
12694230
[PubMed - indexed for MEDLINE]
20.

Novel GLA gene mutations in two Chinese families with classic Fabry disease.

Wang ZX, Zhang Y, Bu DF, Zhang W, Yuan Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):489-92.

PMID:
16215932
[PubMed - indexed for MEDLINE]

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