Sidransky E - Search Results

1

The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.

Gleason AM, D'Souza A, Ryan E, Grochowsky AR, Carter CR, Goker-Alpan O, Lopez G, Tayebi N, Sidransky E. Gleason AM, et al. Among authors: sidransky e. Am J Med Genet A. 2023 Jul;191(7):1783-1791. doi: 10.1002/ajmg.a.63202. Epub 2023 Apr 12. Am J Med Genet A. 2023. PMID: 37042183

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

Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.

Sidransky E, Tayebi N, Ginns EI. Sidransky E, et al. Clin Pediatr (Phila). 1995 Jul;34(7):365-71. doi: 10.1177/000992289503400705. Clin Pediatr (Phila). 1995. PMID: 7554686

4

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.

Fujimoto A, Tayebi N, Sidransky E. Fujimoto A, et al. Among authors: sidransky e. Am J Med Genet. 1995 Nov 20;59(3):356-8. doi: 10.1002/ajmg.1320590315. Am J Med Genet. 1995. PMID: 8599361

5

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

6

Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.

Tayebi N, Cushner S, Sidransky E. Tayebi N, et al. Among authors: sidransky e. Am J Hum Genet. 1996 Sep;59(3):740-1. Am J Hum Genet. 1996. PMID: 8751878 Free PMC article. No abstract available.

7

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.

8

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

9

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.

Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Winfield SL, et al. Among authors: sidransky e. Genome Res. 1997 Oct;7(10):1020-6. doi: 10.1101/gr.7.10.1020. Genome Res. 1997. PMID: 9331372 Free PMC article.

10

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

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