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Results: 1-5 |
Results: 5
Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome
Authors: Stoetzel, Corinne Muller, Jean Laurier, Virginie Davis, Erica E. Zaghloul, Norann A Vicaire, Serge Jacquelin, Cécile Plewniak, Frédéric Leitch, Carmen C. Sarda, Pierre Hamel, Christian De Ravel, Thomy J.L. Lewis, Richard Alan Friederich, Evelyne Thibault, Christelle Danse, Jean-Marc Verloes, Alain Bonneau, Dominique Katsanis, Nicholas Poch, Olivier Dollfus, Hélène
Citation: Stoetzel, Corinne et al., Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome, American journal of human genetics , 80(1), 2007, pp. 1-11
BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
Authors: Katsanis, Nicholas Eichers, Erica R. Ansley, Stephan J. Lewis, Richard Alan Kayserili, Hülya Hoskins, Bethan E. Scambler, Peter J. Beales, Philip L. Lupski, James R.
Citation: Katsanis, Nicholas et al., BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance, American journal of human genetics , 71(1), 2002, pp. 22-29
Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
Authors: Badano, José L: Ansley, Stephen J. Leitch, Carmen C. Lewis, Richard Alan Lupski, James R. Katsanis, Nicholas
Citation: Badano, José L: et al., Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2, American journal of human genetics , 72(3), 2003, pp. 650-658
Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4
Authors: Riazuddin, S. Amer Vasanth, Shivakumar Katsanis, Nicholas
Citation: Riazuddin, S. Amer et al., Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4, American journal of human genetics (Online) AJHG , 93(4), 2013, pp. 758-764
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
Authors: Baeles, Philip L. Badano, Jose L. Ross, Allison J. Ansley, Stephhen J. Hoskis, Bethan E. Kirsten, Brigitta Mein, Charles A. Froguel, Philippe Scambler, Peter J. Lewis, Richard Alan Lupski, James R. Katsanis, Nicholas
Citation: L. Baeles, Philip et al., Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome, American journal of human genetics , 72(5), 2003, pp. 1187-1199
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