Stubblefield BK - Search Results

1

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.

2

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.

Choi JH, Stubblefield B, Cookson MR, Goldin E, Velayati A, Tayebi N, Sidransky E. Choi JH, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):185-8. doi: 10.1016/j.ymgme.2011.06.008. Epub 2011 Jun 17. Mol Genet Metab. 2011. PMID: 21742527 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

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

5

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.

Ziegler SG, Eblan MJ, Gutti U, Hruska KS, Stubblefield BK, Goker-Alpan O, LaMarca ME, Sidransky E. Ziegler SG, et al. Among authors: stubblefield bk. Mol Genet Metab. 2007 Jun;91(2):195-200. doi: 10.1016/j.ymgme.2007.03.004. Epub 2007 Apr 25. Mol Genet Metab. 2007. PMID: 17462935 Free PMC article.

6

In silico and functional studies of the regulation of the glucocerebrosidase gene.

Blech-Hermoni YN, Ziegler SG, Hruska KS, Stubblefield BK, Lamarca ME, Portnoy ME; NISC Comparative Sequencing Program; Green ED, Sidransky E. Blech-Hermoni YN, et al. Among authors: stubblefield bk. Mol Genet Metab. 2010 Mar;99(3):275-82. doi: 10.1016/j.ymgme.2009.10.189. Epub 2009 Nov 4. Mol Genet Metab. 2010. PMID: 20004604 Free PMC article.

7

False-positive results using a Gaucher diagnostic kit--RecTL and N370S.

Choi JH, Velayati A, Stubblefield BK, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E. Choi JH, et al. Among authors: stubblefield bk. Mol Genet Metab. 2010 May;100(1):100-2. doi: 10.1016/j.ymgme.2009.12.017. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20096616 Free PMC article.

8

Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

Velayati A, Knight MA, Stubblefield BK, Sidransky E, Tayebi N. Velayati A, et al. Among authors: stubblefield bk. J Mol Diagn. 2011 Jul;13(4):401-5. doi: 10.1016/j.jmoldx.2011.02.005. J Mol Diagn. 2011. PMID: 21704274 Free PMC article.

9

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.

10

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.

Saranjam H, Chopra SS, Levy H, Stubblefield BK, Maniwang E, Cohen IJ, Baris H, Sidransky E, Tayebi N. Saranjam H, et al. Among authors: stubblefield bk. Eur J Hum Genet. 2013 Jan;21(1):115-7. doi: 10.1038/ejhg.2012.105. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713811 Free PMC article.

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