☰

Grace A. Ashley, Ph.D. - Publications

Affiliations: 
2001 Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
Genetics, Molecular Biology, Pathology
Tree Info Grants Similar researchers PubMed Report error

8 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2002 Ashley GA, Desnick RJ, Gordon RE, Gordon JW. High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease. Journal of Investigative Medicine : the Official Publication of the American Federation For Clinical Research. 50: 185-92. PMID 12033283 DOI: 10.2310/6650.2002.33432  0.635
2001 Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. Journal of Human Genetics. 46: 192-6. PMID 11322659 DOI: 10.1007/S100380170088  0.715
1999 Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Molecular Medicine (Cambridge, Mass.). 5: 806-11. PMID 10666480 DOI: 10.1007/Bf03401993  0.723
1999 Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM. Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). American Journal of Medical Genetics. 84: 420-4. PMID 10360396 DOI: 10.1002/(Sici)1096-8628(19990611)84:5<420::Aid-Ajmg6>3.0.Co;2-Z  0.664
1999 Topaloglu AK, Ashley GA, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ. Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease Molecular Medicine. 5: 806-811. DOI: 10.1007/BF03401993  0.425
1997 Caggana M, Ashley GA, Desnick RJ, Eng CM. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. American Journal of Medical Genetics. 71: 329-35. PMID 9268104 DOI: 10.1002/(Sici)1096-8628(19970822)71:3<329::Aid-Ajmg14>3.0.Co;2-M  0.64
1997 Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Molecular Medicine (Cambridge, Mass.). 3: 174-82. PMID 9100224 DOI: 10.1007/Bf03401671  0.708
1997 Eng CM, Ashley GA, Enriquez AL, Desnick RJ. Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599 Pediatric Research. 41: 102-102. DOI: 10.1203/00006450-199704001-00619  0.511
Show low-probability matches.