Zobrazeno 1 - 10
of 21
pro vyhledávání: '"D F, Barker"'
Publikováno v:
American journal of medical genetics. 98(2)
We have performed effective mutation screening of COL4A5 with a new method of direct, multiplex genomic amplification that employs a single buffer condition and PCR profile. Application of the method to a consecutive series of 46 United States patien
Autor:
D F, Barker
Publikováno v:
Human mutation. 16(4)
Most mutation detection methods are based on analysis of PCR amplified segments and the application of multiplex PCR is one central approach to improving screening efficiency. Genes like the breast-ovarian cancer susceptibility gene BRCA1 pose a diff
Autor:
D F, Barker, C J, Pruchno, X, Jiang, C L, Atkin, E M, Stone, J C, Denison, P R, Fain, M C, Gregory
Publikováno v:
American journal of human genetics. 58(6)
Mutations in the COL4A5 gene, located at Xq22, cause Alport syndrome (AS), a nephritis characterized by progressive deterioration of the glomerular basement membrane and usually associated with progressive hearing loss. We have identified a novel mut
Publikováno v:
Neurology. 46(4)
X-linked hereditary spastic paraplegias (HSP) present with two distinct phenotypes, pure and complicated. The pure form is characterized by spasticity and gait difficulties but lacks the additional features (nystagmus, dysarthria, mental retardation)
Publikováno v:
Contributions to nephrology. 117
Autor:
D F, Barker, E R, Almeida, G, Casey, P R, Fain, S Y, Liao, I, Masunaka, B, Noble, T, Kurosaki, H, Anton-Culver
Publikováno v:
Genetic epidemiology. 13(6)
BRCA1 mutations cause increased risk for breast and ovarian cancer, frequently of early onset. Many different mutations occur in BRCA1, including several examples of recurrent mutations, each of which accounts for a significant number of families wit
Publikováno v:
Contributions to nephrology. 117
Autor:
M Norman, J Weissenbach, K E Davis, Marcy C. Speer, D F Barker, Michael J. Econs, A Read, P R Fain, Peter S. N. Rowe, Fiona Francis
Publikováno v:
The Journal of clinical endocrinology and metabolism. 79(5)
X-linked hypophosphatemic rickets (HYP) is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. Renal cross-transplantation studies in Hyp mice indicate that the disorder is se
Publikováno v:
American journal of human genetics. 54(2)
Genetic linkage studies were conducted in four multigenerational families with X-linked Charcot-Marie-Tooth disease (CMTX), using 12 highly polymorphic short-tandem-repeat markers for the pericentromeric region of the X chromosome. Pairwise linkage a
Autor:
M J, Econs, P R, Fain, M, Norman, M C, Speer, M A, Pericak-Vance, P A, Becker, D F, Barker, A, Taylor, M K, Drezner
Publikováno v:
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 8(9)
X-linked hypophosphatemic rickets (HYP) is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. The defect in tubular phosphate reabsorption is probably secondary to an unident