Search Results - "Sheffield, V C"

Examination of AVPR1a as an autism susceptibility gene by WASSINK, T. H, PIVEN, J, VIELAND, V. J, PIETILA, J, GOEDKEN, R. J, FOLSTEIN, S. E, SHEFFIELD, V. C

“…Impaired reciprocal social interaction is one of the core features of autism. While its determinants are complex, one biomolecular pathway that clearly…”
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Pax6 3′ deletion results in aniridia, autism and mental retardation by Davis, L. K., Meyer, K. J., Rudd, D. S., Librant, A. L., Epping, E. A., Sheffield, V. C., Wassink, T. H.

“…The PAX6 gene is a transcription factor expressed early in development, predominantly in the eye, brain and gut. It is well known that mutations in PAX6 may…”
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Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations by Fingert, John H., Héon, Elise, Liebmann, Jeffrey M., Yamamoto, Tetsuya, Craig, Jamie E., Rait, Julian, Kawase, Kazuhide, Hoh, Sek-Tien, Buys, Yvonne M., Dickinson, Joanne, Hockey, Robin R., Williams-Lyn, Donna, Trope, Graham, Kitazawa, Yoshiaki, Ritch, Robert, Mackey, David A., Alward, Wallace L. M., Sheffield, Val C., Stoned, Edwin M.

“…A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor…”
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Comprehensive Human Genetic Maps: Individual and Sex-Specific Variation in Recombination by Broman, Karl W., Murray, Jeffrey C., Sheffield, Val C., White, Raymond L., Weber, James L.

“…Comprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families; they incorporated >8,000 short…”
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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) by Everett, Lorraine A, Glaser, Benjamin, Beck, John C, Idol, Jacquelyn R, Buchs, Andreas, Heyman, Ma'ayan, Adawi, Faiad, Hazani, Elizur, Nassir, Elias, Baxevanis, Andreas D, Sheffield, Val C, Green, Eric D

“…Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. By some estimates, the disorder may…”
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Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate by Sheffield, Val C, Carmi, Rivka, Hockey, Robin, Haider, Neena B, Searby, Charles, Cideciyan, Artur V, Gorman, Susan, Streb, Luan M, Stone, Edwin M, Wright, Alan F, Hanna, David B, Swiderski, Ruth, Jacobson, Samuel G, Fishman, Gerald A, Bennett, Jean, Duhl, David, Beck, Gretel, Weleber, Richard G

“…Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting…”
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Carrier Rates in the Midwestern United States for GJB2 Mutations Causing Inherited Deafness by Green, Glenn E, Scott, Daryl A, McDonald, Joshua M, Woodworth, George G, Sheffield, Val C, Smith, Richard J. H

“…CONTEXT Mutations in the GJB2 gene are the most common known cause of inherited congenital severe-to-profound deafness. The carrier frequency of these…”
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Identification of a Gene That Causes Primary Open Angle Glaucoma by Stone, Edwin M., Fingert, John H., Wallace L. M. Alward, Nguyen, Thai D., Polansky, Jon R., Sara L. F. Sunden, Nishimura, Darryl, Clark, Abbot F., Nystuen, Arne, Nichols, Brian E., Mackey, David A., Ritch, Robert, Kalenak, Jeffrey W., Craven, E. Randy, Sheffield, Val C.

“…Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular…”
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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy by Vandenburgh, Kimberlie, Mackey, David A, Stone, Edwin M, Héon, Elise, Piguet, Bertrand, Silvestri, Giuliana, Bird, Alan C, Lotery, Andrew J, Guymer, Robyn H, Nishimura, Darryl, Schorderet, Daniel F, Munier, Francis L, Hageman, Gregory S, Sheffield, Val C, Cousin, Pascal, Swiderski, Ruth E

“…Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as…”
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Attachment of a 40-Base-Pair G+C-Rich Sequence (GC-Clamp) to Genomic DNA Fragments by the Polymerase Chain Reaction Results in Improved Detection of Single-Base Changes by Sheffield, Val C., Cox, David R., Lerman, Leonard S., Myers, Richard M.

“…Denaturing gradient gel electrophoresis (DGGE) can be used to distinguish two DNA molecules that differ by as little as a single-base substitution. This method…”
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An Analysis of Allelic Variation in the ABCA4 Gene by Webster, Andrew R, Heon, Elise, Lotery, Andrew J, Vandenburgh, Kimberlie, Casavant, Thomas L, Oh, Kean T, Beck, Gretel, Fishman, Gerald A, Lam, Byron L, Levin, Alex, Heckenlively, John R, Jacobson, Samuel G, Weleber, Richard G, Sheffield, Val C, Stone, Edwin M

“…To assess the allelic variation of the ATP-binding transporter protein (ABCA4). A combination of single-strand conformation polymorphism (SSCP) and automated…”
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A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye by Nishimura, Darryl Y., Searby, Charles C., Alward, Wallace L., Walton, David, Craig, Jamie E., Mackey, David A., Kawase, Kazuhide, Kanis, Adam B., Patil, Shivanand R., Stone, Edwin M., Sheffield, Val C.

“…Mutations in the forkhead transcription–factor gene ( FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with…”
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Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A) by Alward, Wallace L.M, Fingert, John H, Coote, Michael A, Johnson, A. Tim, Lerner, S. Fabian, Junqua, Denise, Durcan, Fiona J, McCartney, Paul J, Mackey, David A, Sheffield, Val C, Stone, Edwin M

“…Glaucoma is a disorder of the optic nerves that is characterized by cupping of the optic-nerve head and loss of peripheral vision. Occasionally, there is also…”
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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 by Sheffield, Val C, Nishimura, Darryl Y, Swiderski, Ruth E, Alward, Wallace L. M, Searby, Charles C, Patil, Shivanand R, Bennet, Steven R, Kanis, Adam B, Gastier, Julie M, Stone, Edwin M

“…A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These…”
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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis by Freund, Carol L, Wang, Qing-Ling, Chen, Shiming, Muskat, Brenda L, Wiles, Carmella D, Sheffield, Val C, Jacobson, Samuel G, Mclnnes, Roderick R, Zack, Donald J, Stone, Edwin M

“…Leber congenital amaurosis (LCA) is a clinically heterogeneous group of childhood retinal degenerations, generally reported to be inherited in an autosomal…”
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Glucocorticoid Induction of the Glaucoma Gene MYOC in Human and Monkey Trabecular Meshwork Cells and Tissues by Clark, Abbot F, Steely, H. Thomas, Dickerson, Jaime E., Jr, English-Wright, Sherry, Stropki, Karen, McCartney, Mitchell D, Jacobson, Nasreen, Shepard, Allan R, Clark, John I, Matsushima, Hiroyuki, Peskind, Elaine R, Leverenz, James B, Wilkinson, Charles W, Swiderski, Ruth E, Fingert, John H, Sheffield, Val C, Stone, Edwin M

“…To examine the intracellular and extracellular expression of myocilin in the human and primate trabecular meshwork (TM) in the presence and absence of…”
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Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration by Sheffield, Val C, Stone, Edwin M, Streb, Luan M, Hockey, Robin R, Lotery, Andrew J, Webster, Andrew R, Vandenburgh, Kimberlie

“…Age-related macular degeneration (AMD) is a potentially blinding disease that has been estimated to affect as many as 30% of people over age 65. Clinical…”
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Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15 by Carmi, R, Rokhlina, T, Kwitek-Black, A E, Elbedour, K, Nishimura, D, Stone, E M, Sheffield, V C

“…Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and…”
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Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4) by SCOTT, D. A, RONG WANG, KREMAN, T. M, ANDREWS, M, MCDONALD, J. M, BISHOP, J. R, SMITH, R. J. H, KARNISKI, L. P, SHEFFIELD, V. C

“…The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this gene are responsible…”
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Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration by Lotery, Andrew J, Munier, Francis L, Fishman, Gerald A, Weleber, Richard G, Jacobson, Samuel G, Affatigato, Louisa M, Nichols, Brian E, Schorderet, Daniel F, Sheffield, Val C, Stone, Edwin M

“…To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD). Three hundred twenty-one AMD…”
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