Sidransky E - Search Results

1

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Bras J, Paisan-Ruiz C, Guerreiro R, Ribeiro MH, Morgadinho A, Januario C, Sidransky E, Oliveira C, Singleton A. Bras J, et al. Among authors: sidransky e. Neurobiol Aging. 2009 Sep;30(9):1515-7. doi: 10.1016/j.neurobiolaging.2007.11.016. Epub 2007 Dec 21. Neurobiol Aging. 2009. PMID: 18160183 Free PMC article.

2

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E. Tayebi N, et al. Among authors: sidransky e. Am J Med Genet. 1996 Dec 18;66(3):316-9. doi: 10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8985494

3

Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.

Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E. Reissner K, et al. Among authors: sidransky e. Mol Genet Metab. 1998 Apr;63(4):281-8. doi: 10.1006/mgme.1998.2675. Mol Genet Metab. 1998. PMID: 9635296

4

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E. Stone DL, et al. Among authors: sidransky e. Eur J Hum Genet. 1999 May-Jun;7(4):505-9. doi: 10.1038/sj.ejhg.5200315. Eur J Hum Genet. 1999. PMID: 10352942

5

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E. Lau EK, et al. Among authors: sidransky e. Hum Genet. 1999 Apr;104(4):293-300. doi: 10.1007/s004390050957. Hum Genet. 1999. PMID: 10369158

6

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Stone DL, et al. Among authors: sidransky e. Hum Mutat. 2000;15(2):181-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S. Hum Mutat. 2000. PMID: 10649495 Review.

7

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E. Koprivica V, et al. Among authors: sidransky e. Am J Hum Genet. 2000 Jun;66(6):1777-86. doi: 10.1086/302925. Epub 2000 May 4. Am J Hum Genet. 2000. PMID: 10796875 Free PMC article.

8

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.

Park JK, Koprivica V, Andrews DQ, Madike V, Tayebi N, Stone DL, Sidransky E. Park JK, et al. Among authors: sidransky e. Am J Med Genet. 2001 Mar 1;99(2):147-51. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1144>3.0.co;2-1. Am J Med Genet. 2001. PMID: 11241475 Review.

9

The E326K mutation and Gaucher disease: mutation or polymorphism?

Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E. Park JK, et al. Among authors: sidransky e. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352

10

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E. Orvisky E, et al. Among authors: sidransky e. Hum Mutat. 2002 Apr;19(4):458-9. doi: 10.1002/humu.9024. Hum Mutat. 2002. PMID: 11933202

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