Ashton-Prolla P - Search Results

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. Ashton-Prolla P, et al. J Investig Med. 2000 Jul;48(4):227-35. J Investig Med. 2000. PMID: 10916280

2

Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.

Ashton-Prolla P, Gershin IF, Babu A, Neu RL, Zinberg RE, Willner JP, Desnick RJ, Cotter PD. Ashton-Prolla P, et al. Am J Med Genet. 1997 Dec 31;73(4):470-3. doi: 10.1002/(sici)1096-8628(19971231)73:4<470::aid-ajmg17>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9415476

3

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ. Grace ME, et al. J Clin Invest. 1999 Mar;103(6):817-23. doi: 10.1172/JCI5168. J Clin Invest. 1999. PMID: 10079102 Free PMC article.

4

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. Ashton-Prolla P, et al. Am J Med Genet. 1999 Jun 11;84(5):420-4. doi: 10.1002/(sici)1096-8628(19990611)84:5<420::aid-ajmg6>3.0.co;2-z. Am J Med Genet. 1999. PMID: 10360396

5

Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation.

Jardim LB, Palma-Dias R, Silva LC, Ashton-Prolla P, Giugliani R. Jardim LB, et al. Acta Paediatr. 1996 Aug;85(8):943-6. doi: 10.1111/j.1651-2227.1996.tb14191.x. Acta Paediatr. 1996. PMID: 8863876

6

Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study.

Schüler L, Pastuszak A, Sanseverino TV, Orioli IM, Brunoni D, Ashton-Prolla P, Silva da Costa F, Giugliani R, Couto AM, Brandao SB, Koren G. Schüler L, et al. Reprod Toxicol. 1999 Mar-Apr;13(2):147-51. doi: 10.1016/s0890-6238(98)00072-0. Reprod Toxicol. 1999. PMID: 10213522 Clinical Trial.

7

Effects of imilglucerase withdrawal on an adult with Gaucher disease.

Schwartz IV, Karam S, Ashton-Prolla P, Michelin K, Coelho J, Pires RF, Pereira ML, Giugliani R. Schwartz IV, et al. Br J Haematol. 2001 Jun;113(4):1089. doi: 10.1046/j.1365-2141.2001.02821-13.x. Br J Haematol. 2001. PMID: 11442517 Free article. No abstract available.

8

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease.

Gomes I, Nora DB, Becker J, Ehlers JA, Schwartz IV, Giugliani R, Ashton-Prolla P, Jardim L. Gomes I, et al. J Neurol Sci. 2003 Oct 15;214(1-2):21-5. doi: 10.1016/s0022-510x(03)00172-2. J Neurol Sci. 2003. PMID: 12972384

9

Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil.

Palmero EI, Ashton-Prolla P, da Rocha JC, Vargas FR, Kalakun L, Blom MB, Azevedo SJ, Caleffi M, Giugliani R, Schüler-Faccini L. Palmero EI, et al. J Genet Couns. 2007 Jun;16(3):363-71. doi: 10.1007/s10897-006-9073-0. Epub 2007 Feb 23. J Genet Couns. 2007. PMID: 17318454

10

Cancer genetic counseling in public health care hospitals: the experience of three Brazilian services.

Palmero EI, Kalakun L, Schüler-Faccini L, Giugliani R, Regla Vargas F, Rocha JC, Ashton-Prolla P. Palmero EI, et al. Community Genet. 2007;10(2):110-9. doi: 10.1159/000099089. Community Genet. 2007. PMID: 17380061

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