Stubblefield BK - Search Results

1

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Goker-Alpan O, et al. Among authors: stubblefield bk. J Pediatr. 2003 Aug;143(2):273-6. doi: 10.1067/S0022-3476(03)00302-0. J Pediatr. 2003. PMID: 12970647

2

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E. Tayebi N, et al. Among authors: stubblefield bk. Am J Hum Genet. 2003 Mar;72(3):519-34. doi: 10.1086/367850. Epub 2003 Feb 13. Am J Hum Genet. 2003. PMID: 12587096 Free PMC article.

3

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E. Park JK, et al. Among authors: stubblefield bk. Pediatr Res. 2003 Mar;53(3):387-95. doi: 10.1203/01.PDR.0000049515.79882.94. Pediatr Res. 2003. PMID: 12595585

4

A mutation in SCARB2 is a modifier in Gaucher disease.

Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. Velayati A, et al. Among authors: stubblefield bk. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21796727 Free PMC article.

5

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Hassan S, Lopez G, Stubblefield BK, Tayebi N, Sidransky E. Hassan S, et al. Among authors: stubblefield bk. Mol Genet Metab. 2018 Sep;125(1-2):1-3. doi: 10.1016/j.ymgme.2018.06.013. Epub 2018 Jun 28. Mol Genet Metab. 2018. PMID: 29980418 Free PMC article.

6

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.

Poffenberger CN, Inati S, Tayebi N, Stubblefield BK, Ryan E, Schiffmann R, Sidransky E, Lopez G. Poffenberger CN, et al. Among authors: stubblefield bk. Mol Genet Metab. 2020 Nov;131(3):358-363. doi: 10.1016/j.ymgme.2020.10.010. Epub 2020 Oct 20. Mol Genet Metab. 2020. PMID: 33183916 Free PMC article.

7

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.

Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D, Fillano JJ, Sidransky E. Tayebi N, et al. Among authors: stubblefield bk. Mol Genet Metab. 2001 Aug;73(4):313-21. doi: 10.1006/mgme.2001.3201. Mol Genet Metab. 2001. PMID: 11509013

8

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: stubblefield bk. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352

9

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: stubblefield bk. Hum Mutat. 2002 Apr;19(4):458-9. doi: 10.1002/humu.9024. Hum Mutat. 2002. PMID: 11933202

10

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidransky E. Tayebi N, et al. Mol Genet Metab. 2003 Jun;79(2):104-9. doi: 10.1016/s1096-7192(03)00071-4. Mol Genet Metab. 2003. PMID: 12809640

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