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B Stubblefield

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Articles 11
Citations 329
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Recent Articles
1.
Mayer F, Pittinger C, Versteeg D, Rodgers J, Stubblefield B, Wentsel R, et al.
Environ Sci Technol . 2011 Jun; 32(5):116A. PMID: 21662129
No abstract available.
2.
Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca M, Wong K, et al.
Mol Genet Metab . 2003 Jun; 79(2):104-9. PMID: 12809640
Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes....
3.
Orvisky E, Stubblefield B, Long R, Martin B, Sidransky E, Krasnewich D
Anal Biochem . 2003 May; 317(1):12-8. PMID: 12729595
Congenital disorders of glycosylation (CDG) are a group of multisystemic disorders resulting from defects in the synthesis and processing of N-linked oligosaccharides. The most common form, CDG type Ia (CDG-Ia),...
4.
Stone D, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E
Hum Mutat . 2000 Jan; 15(2):181-8. PMID: 10649495
Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, non-neuronopathic; type 2, acute neuronopathic; and...
5.
Ginns E, St Jean P, Philibert R, Galdzicka M, Thiel B, Long R, et al.
Proc Natl Acad Sci U S A . 1998 Dec; 95(26):15531-6. PMID: 9861003
Bipolar affective disorder (BPAD; manic-depressive illness) is characterized by episodes of mania and/or hypomania interspersed with periods of depression. Compelling evidence supports a significant genetic component in the susceptibility to...
6.
Philibert R, King B, Winfield S, Cook E, Lee Y, Stubblefield B, et al.
Mol Psychiatry . 1998 Aug; 3(4):303-9. PMID: 9702738
Mental retardation is a prominent feature of many neurodevelopmental syndromes. In an attempt to identify genetic components of these illnesses, we isolated and sequenced a large number of human genomic...
7.
Sidransky E, Bottler A, Stubblefield B, Ginns E
Hum Mutat . 1994 Jan; 3(1):25-8. PMID: 8118463
The wide spectrum of clinical manifestations resulting from glucocerebrosidase deficiency complicates genetic counseling for Gaucher disease. The identification of mutations in the glucocerebrosidase gene has enabled studies of genotype-phenotype correlation....
8.
Sidransky E, Stubblefield B
Biotechniques . 1993 Jul; 15(1):30. PMID: 8363834
No abstract available.
9.
Sidransky E, Tsuji S, Martin B, Stubblefield B, Ginns E
Am J Med Genet . 1992 Feb; 42(3):331-6. PMID: 1536173
We evaluated 62 Gaucher patients to determine whether patients with similar phenotypes had the same DNA point mutations. Genomic DNA from these Gaucher patients was screened for the 3 most...
10.
Ginns E, Choudary P, Tsuji S, Martin B, Stubblefield B, Sawyer J, et al.
Proc Natl Acad Sci U S A . 1985 Oct; 82(20):7101-5. PMID: 3863141
Analysis of immunologic cross-reacting material in Chinese hamster-human somatic cell hybrids allowed assignment of the structural gene for glucocerebrosidase (glucosylceramidase; beta-D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45) to chromosome 1 bands q21-q32. In...