Now showing items 31-40 of 46
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4
(Springer-Verlag, 2005-12)
A severe form of autosomal recessive retinitis pigmentosa (arRP) was identified in a large Pakistani family ascertained in the Punjab province of Pakistan. All affected individuals in the family had night blindness in early ...
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy
(Springer-Verlag, 2000-07)
Blue cone monochromacy (BCM) is an X-linked ocular disease characterized by poor visual acuity, nystagmus, and photodysphoria in males with severely reduced color discrimination. Deletions, rearrangements and point mutations ...
Scotopic and Photopic Visual Thresholds and Spatial and Temporal Discrimination Evaluated by Behavior of Mice in a Water Maze †
(Blackwell Publishing Ltd, 2006-11)
Methods that allow specific manipulations of the mouse genome have made it possible to alter specific aspects of photoreceptor function within the mouse retina. Mice with photoreceptors that have altered photosensitivities ...
A locus for posterior polymorphous corneal dystrophy ( PPCD3 ) maps to chromosome 10
(Wiley Subscription Services, Inc., A Wiley Company, 2004-11-01)
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. ...
Increased recombination adjacent to the Huntington disease-linked D4S10 marker
(Elsevier, 1991-01)
Huntington disease (HD) is caused by a genetic defect distal to the anonymous DNA marker D4S10 in the terminal cytogenetic subband of the short arm of chromosome 4 (4p16.3). The effort to identify new markers linked to HD ...
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal
(Wiley Subscription Services, Inc., A Wiley Company, 2004-03-15)
We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior ...
Pericellular proteolysis by leukocytes and tumor cells on substrates: focal activation and the role of urokinase-type plasminogen activator
(Springer-Verlag, 2004-04)
Previous studies have shown that the urokinase-type plasminogen activator receptor (uPAR) is localized to the adherence sites of leukocytes and tumor cells suggesting that pericellular proteolysis may accompany focal ...
Ion channel clustering enhances weak electric field detection by neutrophils: apparent roles of SKF96365-sensitive cation channels and myeloperoxidase trafficking in cellular responses
(Springer-Verlag; EBSA, 2005-12)
We have tested Galvanovskis and Sandblom’s prediction that ion channel clustering enhances weak electric field detection by cells as well as how the elicited signals couple to metabolic alterations. Electric field application ...
Fluorescence spectroscopic detection of mitochondrial flavoprotein redox oscillations and transient reduction of the NADPH oxidase-associated flavoprotein in leukocytes
(Springer-Verlag; EBSA, 2004-07)
Steady-state and time-resolved fluorescence spectroscopy and fluorescence microscopy of leukocyte flavoproteins have been performed. Both living human peripheral blood monocytes and neutrophils have been utilized as ...
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs
(Springer-Verlag; Springer-Verlag Berlin Heidelberg, 1998-11)