Search Results - Stephen J. Ansley
- Showing 1 - 7 results of 7
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BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance by Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard A. Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter Scambler, Philip L. Beales, James R. Lupski
Published 2002Artigo -
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Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci by Philip L. Beales, Nicholas Katsanis, Richard A. Lewis, Stephen J. Ansley, Nursel Elçioğlu, Jamal Raza, Michael O. Woods, Jane S. Green, Patrick S. Parfrey, William S. Davidson, James R. Lupski
Published 2001Artigo -
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Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome by Philip L. Beales, José L. Badano, Alison Ross, Stephen J. Ansley, Bethan E. Hoskins, Brigitta Kirsten, Charles A. Mein, Philippe Froguel, Peter Scambler, Richard A. Lewis, James R. Lupski, Nicholas Katsanis
Published 2003Artigo -
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The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression by Jun Chul Kim, José L. Badano, Sonja Sibold, Muneer A. Esmail, Josephine Hill, Bethan E. Hoskins, Carmen C. Leitch, Kerrie Venner, Stephen J. Ansley, Alison Ross, Michel R. Leroux, Nicholas Katsanis, Philip L. Beales
Published 2004Artigo -
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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome by Yanli Fan, Muneer A. Esmail, Stephen J. Ansley, Oliver E. Blacque, Keith A. Boroevich, Alison Ross, Susan Moore, José L. Badano, Helen May‐Simera, Deanna S Compton, Jane S. Green, Richard A. Lewis, Mieke M. van Haelst, Patrick S. Parfrey, David L. Baillie, Philip L. Beales, Nicholas Katsanis, William S. Davidson, Michel R. Leroux
Published 2004Artigo -
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Loss of <i>C. elegans</i> BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport by Oliver E. Blacque, Michael J. Reardon, Chunmei Li, Jonathan McCarthy, Moe R. Mahjoub, Stephen J. Ansley, José L. Badano, Allan K. Mah, Philip L. Beales, William S. Davidson, Robert Johnsen, M William Audeh, Ronald H.A. Plasterk, David L. Baillie, Nicholas Katsanis, Lynne M. Quarmby, Stephen R. Wicks, Michel R. Leroux
Published 2004Artigo
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Biology
Genetics
Bardet–Biedl syndrome
Gene
Phenotype
Cell biology
Cilium
Allele
Caenorhabditis elegans
Genetic heterogeneity
Intraflagellar transport
Polydactyly
Allelic heterogeneity
Axoneme
Botany
Cell
Cell cycle
Centrosome
Ciliopathy
Flagellum
G protein
GTP-binding protein regulators
GTPase
Haplotype
Identification (biology)
Locus (genetics)
Mendelian inheritance
Microtubule
Motile cilium
Mutant