Search Results - "Sundin, OH"

Inheritance of a Novel COL8A2 Mutation Defines a Distinct Early-Onset Subtype of Fuchs Corneal Dystrophy by Gottsch, John D, Sundin, Olof H, Liu, Sammy H, Jun, Albert S, Broman, Karl W, Stark, Walter J, Vito, Elizabeth C. L, Narang, Amol K, Thompson, John M, Magovern, Malcolm

“…To characterize the genetic basis and phenotype of inherited Fuchs corneal dystrophy (FCD). DNA from blood was used for genome-wide linkage scans with tandem…”
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Fuchs Corneal Dystrophy: Aberrant Collagen Distribution in an L450W Mutant of the COL8A2 Gene by Gottsch, John D, Zhang, Cheng, Sundin, Olof H, Bell, W. Robert, Stark, Walter J, Green, W. Richard

“…To characterize histologically Descemet's membrane in an early-onset Fuchs corneal dystrophy (FCD) COL8A2 mutant and compare these findings with corneas from…”
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Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein by Sundin, Olof H., Leppert, Gregory S., Silva, Eduardo D., Yang, Jun-Ming, Dharmaraj, Sharola, Maumenee, Irene H., Santos, Luisa Coutinho, Parsa, Cameron F., Traboulsi, Elias I., Broman, Karl W., DiBernardo, Cathy, Sunness, Janet S., Toy, Jeffrey, Weinberg, Ethan M., Nathans, Jeremy

“…Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00…”
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Linkage of Late-Onset Fuchs Corneal Dystrophy to a Novel Locus at 13pTel-13q12.13 by Sundin, Olof H, Jun, Albert S, Broman, Karl W, Liu, Sammy H, Sheehan, Siobhan E, Vito, Elizabeth C. L, Stark, Walter J, Gottsch, John D

“…To identify the gene locus underlying the inheritance of late-onset Fuchs corneal dystrophy (FCD) in a large white kindred. Genotypes of small tandem repeat…”
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Genetic basis of total colourblindness among the Pingelapese islanders by Sundin, Olof H, Yang, Jun-Ming, Li, Yingying, Zhu, Danping, Hurd, Jane N, Mitchell, Thomas N, Silva, Eduardo D, Maumenee, Irene Hussels

“…Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish…”
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The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia by Koroma, BM, Yang, JM, Sundin, OH

“…Heterozygous defects in the highly conserved PAX6 homeobox gene are associated with aniridia, an inherited human disorder affecting several ocular structures,…”
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The Optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes by Toy, J. (Johns Hopkins University School of Medicine, Baltimore, MD.), Yang, J.M, Leppert, G.S, Sundin, O.H

“…Vertebrate eye development begins at the gastrula stage, when a region known as the eye field acquires the capacity to generate retina and lens. Optx2, a…”
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Analysis and Documentation of Progression of Fuchs Corneal Dystrophy With Retroillumination Photography by Gottsch, John D, Sundin, Olof H, Rencs, Erik V, Emmert, David G, Stark, Walter J, Cheng, Clement J, Schmidt, Gregory W

“…PURPOSE:Fuchs corneal dystrophy (FCD) is a degenerative disorder of the cornea that is characterized by the progressive accumulation of guttae, which are small…”
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Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity by Parsa, C F, Silva, E D, Sundin, O H, Goldberg, M F, De Jong, M R, Sunness, J S, Zeimer, R, Hunter, D G

“…To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common…”
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A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype by Silva, Eduardo, Yang, Jun-Ming, Li, Yingying, Dharmaraj, Sharola, Sundin, Olof H, Maumenee, Irene H

“…To identify and characterize new cone rod homeobox (CRX) mutations associated with the Leber congenital amaurosis phenotype. The human CRX gene was sequenced…”
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A homeo domain protein reveals the metameric nature of the developing chick hindbrain by SUNDIN, O. H, EICHELE, G

“…The segmented embryonic hindbrain of vertebrates develops by sequential constriction of the neural tube into eight metameric units known as rhombomeres. The…”
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Region-specific expression in early chick and mouse embryos of Ghox-lab and Hox 1.6, vertebrate homeobox-containing genes related to Drosophila labial by SUNDIN, O. F, BUSSE, H. G, ROGERS, M. B, GUDAS, L. J, EICHELE, G

“…A chick gene homologous to the Drosophila homeobox gene labial has been cloned and sequenced. Regions of additional sequence identity outside of the homeobox…”
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Optic nerve aplasia in an infant with congenital hypopituitarism and posterior pituitary ectopia by Brodsky, Michael C, Atreides, Sean-Paul A, Fowlkes, John L, Sundin, Olof H

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Expression of the Optx2 homeobox gene during mouse development by Toy, Jeffrey, Sundin, Olof H

“…Optx2, a member of the sine oculis-Six family of homeobox genes, is first expressed in the anterior neural plate of the mouse embryo, and subsequently in the…”
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