Search Results - "Sheffield, V.C."

The role of chondrocyte primary cilia in osteoarthritis by Sheffield, I.D, Nelson, M.A, Baek, D, Coleman, J.M, Glenn, S, Dorius, B, Sanchez, A.E, Williams, C, Rose, B.J, Sheffield, V.C, Kooyman, D.L

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120 PREMATURE OSTEOARTHRITIS IN THE TEMPOROMANDIBULAR AND KNEE JOINTS OF BARDET-BIEDLE SYNDROME MICE by Peterson, D.M, Weipert, D, Airmet, K.W, Killingsworth, S, Klein, M.R, Beardsley, T.D, Bridgewater, L.C, Seegmiller, R.E, Morcuende, J.A, Kooyman, D.L, Sheffield, V.C

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A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis by Nachury, Maxence V., Loktev, Alexander V., Zhang, Qihong, Westlake, Christopher J., Peränen, Johan, Merdes, Andreas, Slusarski, Diane C., Scheller, Richard H., Bazan, J. Fernando, Sheffield, Val C., Jackson, Peter K.

“…Primary cilium dysfunction underlies the pathogenesis of Bardet-Biedl syndrome (BBS), a genetic disorder whose symptoms include obesity, retinal degeneration,…”
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A Comprehensive Human Linkage Map with Centimorgan Density by Murray, Jeffrey C., Buetow, Kenneth H., Weber, James L., Ludwigsen, Susan, Scherpbier-Heddema, Titia, Manion, Frank, Quillen, John, Sheffield, Val C., Sunden, Sara, Duyk, Geoffrey M., Weissenbach, Jean, Gyapay, Gabor, Dib, Colette, Morrissette, Jean, Lathrop, G. Mark, Vignal, Alain, White, Ray, Matsunami, Norisada, Gerken, Steven, Melis, Robert, Albertsen, Hans, Plaetke, Rosemarie, Odelberg, Shannon, Ward, David, Dausset, Jean

“…In the last few years there have been rapid advances in developing genetic maps for humans, greatly enhancing our ability to localize and identify genes for…”
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The role of COMT V158M polymorphism on WCST performance and frontal lobe morphology in schizophrenia by Ho, B., Wassink, T.H., Andreasen, N.C., Sheffield, V.C.

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Night blindness in Sorsby's fundus dystrophy reversed by vitamin A by Jacobson, S.C, Cideciyan, A.v, Regunath, G, Rodriguez, F.J, Vandenburgh, K, Sheffield, V.C, Stone, E.M

“…Sorsby's fundus dystrophy (SFD) is an autosomal dominant retinal degeneration caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene…”
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Integrated human genome-wide maps constructed using the CEPH reference panel by Buetow, K.H, Weber, J.L, Ludwigsen, S, Scherpbier-Heddema, T, Duyk, G.M, Sheffield, V.C, Wang, Z.Y, Murray, J.C

“…High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from…”
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Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint by Walder, R.Y., Shalev, H., Brennan, T.M.H., Carmi, R., Elbedour, K., Scott, D.A., Hanauer, A., Mark, A.L., Patil, S., Stone, E.M., Sheffield, V.C.

“…Familial hypomagnesemia with secondary hypocalcemia (HSH) (MIM 307600) was studied in three inbred Bedouin kindreds from Israel. The three kindreds, one…”
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Missense variations in the fibulin 5 gene and age-related macular degeneration by Stone, E.M., Braun, T.A., Russell, S.R., Kuehn, M.H., Lotery, A.J., Moore, P.A., Eastman, C.G., Casavant, T.L., Sheffield, V.C.

“…A number of studies have suggested that both genetic and environmental factors play a role in age-related macular degeneration (AMD). In this study, the…”
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Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2 by Scott, D.A., Drury, S., Sundstrom, R.A., Bishop, J., Swiderski, R.E., Carmi, R., Ramesh, A., Elbedour, K., Srikumari Srisailapathy, C.R., Keats, B.J., Sheffield, V.C., Smith, R.J.H.

“…The combined DFNB7–DFNB11 deafness locus maps to chromosome 9q13–q21 between markers D9S1806 and D9S769. We have determined the cDNA sequence and genomic…”
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Identification of a Germ-Line Mutation in the p53 Gene in a Patient with an Intracranial Ependymoma by METZGER, A. K, SHEFFIELD, V. C, DUYK, G, DANESHVAR, L, EDWARDS, M. S. B, COGEN, P. H

“…We detected a germ-line mutation of the p53 gene in a patient with a malignant ependymoma of the posterior fossa. This mutation, which was found at codon 242,…”
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Evaluation and molecular characterization of EHD1, a candidate gene for Bardet–Biedl Syndrome 1 (BBS1) by Haider, N.B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E.M., Sheffield, V.C.

“…Bardet–Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis…”
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A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea by Nichols, B E, Drack, A V, Vandenburgh, K, Kimura, A E, Sheffield, V C, Stone, E M

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Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss-loci on human chromosome 9q and mouse chromosome 19 by Scott, D.A., Greinwald, J.H., Marietta, J.R., Drury, S., Swiderski, R.E., Viñas, A., DeAngelis, M.M., Carmi, R., Ramesh, A., Kraft, M.L., Elbedour, K., Skworak, A.B., Friedman, R.A., Srikumari Srisailapathy, C.R., Verhoeven, K., Van Camp, G., Lovett, M., Deininger, P.L., Batzer, M.A., Morton, C.C., Keats, B.J., Smith, R.J.H., Sheffield, V.C.

“…The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an approx. 1.5 Mb interval on human chromosome 9q13-q21. We…”
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DFNB11 by Scott, D A, Sheffield, V C

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Chromosomal Assignment of 2900 Tri- and Tetranucleotide Repeat Markers Using NIGMS Somatic Cell Hybrid Panel 2 by Sunden, Sara L.F., Businga, Tom, Beck, John, McClain, Ann, Gastier, Julie M., Pulido, Jacqueline C., Yandava, Chandri Naidu, Brody, Thomas, Ghazizadeh, Jelveh, Weber, James L., Duyk, Geoffrey M., Murray, Jeffrey C., Buetow, Kenneth H., Sheffield, V.C.

“…Two thousand nine hundred and thirty-one tri- and tetranucleotide short tandem repeat polymorphisms (STRPs) developed by the Cooperative Human Linkage Center…”
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Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR by Ibraghimov-Beskrovnaya, O, Sheffield, V C, Campbell, K P

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A user-friendly Hypercard interface for human linkage analysis by Nichols, B.E., Sheffield, V.C., Stone, E.M.

“…The availability of a large number of highly informative genetic markers has made human linkage analysis faster and easier to perform. However, current linkage…”
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Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1 by NICHOLS, B. E, BASCOM, R, LITT, M, MCINNES, R, SHEFFIELD, V. C, STONE, E. M

“…Vitelliform macular dystrophy (Best disease) is an autosomal dominant macular dystrophy which shares important clinical features with age-related macular…”
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Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci by Carmi, R, Elbedour, K, Stone, E M, Sheffield, V C

“…Bardet-Biedl syndrome (BBS) is an autosomal-recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and…”
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