Sidransky E - Search Results

1

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.

Yap TL, Velayati A, Sidransky E, Lee JC. Yap TL, et al. Among authors: sidransky e. Mol Genet Metab. 2013 Jan;108(1):56-64. doi: 10.1016/j.ymgme.2012.11.010. Epub 2012 Nov 28. Mol Genet Metab. 2013. PMID: 23266198 Free PMC article.

2

DNA mutation analysis of Gaucher patients.

Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI. Sidransky E, et al. Am J Med Genet. 1992 Feb 1;42(3):331-6. doi: 10.1002/ajmg.1320420315. Am J Med Genet. 1992. PMID: 1536173

3

Gaucher patients with oculomotor abnormalities do not have a unique genotype.

Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon EJ, Ginns EI. Sidransky E, et al. Clin Genet. 1992 Jan;41(1):1-5. doi: 10.1111/j.1399-0004.1992.tb03618.x. Clin Genet. 1992. PMID: 1633639

4

Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.

Tayebi N, Herman J, Ginns EI, Sidransky E. Tayebi N, et al. Among authors: sidransky e. Biochem Mol Med. 1996 Apr;57(2):149-51. doi: 10.1006/bmme.1996.0021. Biochem Mol Med. 1996. PMID: 8733893

5

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Sidransky E, Tayebi N, Stubblefield BK, Eliason W, Klineburgess A, Pizzolato GP, Cox JN, Porta J, Bottani A, DeLozier-Blanchet CD. Sidransky E, et al. J Med Genet. 1996 Feb;33(2):132-6. doi: 10.1136/jmg.33.2.132. J Med Genet. 1996. PMID: 8929950 Free PMC article.

6

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

7

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.

Tayebi N, Cushner SR, Kleijer W, Lau EK, Damschroder-Williams PJ, Stubblefield BK, Den Hollander J, Sidransky E. Tayebi N, et al. Among authors: sidransky e. Am J Med Genet. 1997 Nov 28;73(1):41-7. doi: 10.1002/(sici)1096-8628(19971128)73:1<41::aid-ajmg9>3.0.co;2-s. Am J Med Genet. 1997. PMID: 9375921

8

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

9

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

10

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

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