A P Boright
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Explore the profile of A P Boright including associated specialties, affiliations and a list of published articles.
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9
Citations
302
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Recent Articles
1.
Jacobson A, Paterson A, Ryan C, Cleary P, Waberski B, Weinger K, et al.
Diabet Med
. 2010 Feb;
27(1):15-22.
PMID: 20121884
Aims: Specific polymorphisms of the apolipoprotein E (APOE) and angiotensin-converting enzyme (ACE) genes appear to increase risk for Alzheimer's disease and cognitive dysfunction in the general population, yet little research...
2.
Petek E, Windpassinger C, Vincent J, Cheung J, Boright A, Scherer S, et al.
Am J Hum Genet
. 2001 Mar;
68(4):848-58.
PMID: 11254443
Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. We identified a male patient with GTS and other anomalies. It was...
3.
Wilson M, Riemer C, Martindale D, Schnupf P, Boright A, Cheung T, et al.
Nucleic Acids Res
. 2001 Mar;
29(6):1352-65.
PMID: 11239002
Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a gene-dense, GC-rich...
4.
Corcoran M, Mould S, Orchard J, Ibbotson R, Chapman R, Boright A, et al.
Oncogene
. 1999 Dec;
18(46):6271-7.
PMID: 10597225
The increased or inappropriate expression of genes with oncogenic properties through specific chromosome translocations is an important event in the pathogenesis of B-cell lymphoproliferative diseases. Recent studies have found deletions...
5.
Kobayashi K, Sinasac D, Iijima M, Boright A, Begum L, Lee J, et al.
Nat Genet
. 1999 Jun;
22(2):159-63.
PMID: 10369257
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in...
6.
Boright A, Connelly P, Brunt J, Morgan K, Hegele R
J Hum Genet
. 1998 Sep;
43(3):153-9.
PMID: 9747026
The role of common variation in the low density lipoprotein (LDL) receptor gene (LDLR) as a determinant of variation in plasma LDL cholesterol in normolipidemic populations is not well established....
7.
Boright A, Connelly P, Brunt J, Scherer S, Tsui L, Hegele R
Atherosclerosis
. 1998 Aug;
139(1):131-6.
PMID: 9699900
In a sample taken from the genetically isolated Alberta Hutterites, we previously found that PON1 variation was associated with variation in plasma lipoprotein traits, including LDL and HDL cholesterol. With...
8.
Boright A, Scriver C, Lancaster G, Choy F
Am J Hum Genet
. 1989 May;
44(5):731-40.
PMID: 2705457
Prolidase (E.C.3.4.13.9) is a homodimeric enzyme encoded at a locus on chromosome 19. Prolidase deficiency is an autosomal recessive disorder with a highly variable clinical phenotype. We purified prolidase to...
9.
Boright A, Lancaster G, Scriver C
Hum Genet
. 1984 Jan;
67(1):29-33.
PMID: 6745923
Osteogenesis imperfecta (OI) is a phenotype with clinical and biochemical heterogeneity. We report here that expression of the OI phenotype extends to the level of dermal fibroblast morphology in vitro....