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Items: 3

Select item 44869721.

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Kristin Kessler, Ina Wunderlich, Steffen Uebe, Nathalie S. Falk, Andreas Gießl, Johann Helmut Brandstätter, Bernt Popp, Patricia Klinger, Arif B. Ekici, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Ronald Roepman, Eva Seemanová, Christian T. Thiel

Sci Rep. 2015; 5: 11649. Published online 2015 Jul 1. doi: 10.1038/srep11649

PMCID:: PMC4486972

Abstract Article PDF–1.3M

Select item 44703322.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Paige Taylor, Tiago J. Dantas, Ivan Duran, Sulin Wu, Ralph S. Lachman, University of Washington Center for Mendelian Genomics, Stanley F. Nelson, Daniel H. Cohn, Richard B. Vallee, Deborah Krakow

Nat Commun. Author manuscript; available in PMC 2015 Dec 16.

Published in final edited form as: Nat Commun. 2015; 6: 7092. Published online 2015 Jun 16. doi: 10.1038/ncomms8092

PMCID:: PMC4470332

Abstract Article PDF–1.8M

Select item 38241133.

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, Claudio R. Cortés, Aideen M. McInerney-Leo, Richard D. Emes, Heleen H. Arts, Beyhan Tüysüz, Jason D’Silva, Paul J. Leo, Tom C. Giles, Machteld M. Oud, Jessica A. Harris, Marije Koopmans, Mhairi Marshall, Nursel Elçioglu, Alma Kuechler, Detlef Bockenhauer, Anthony T. Moore, Louise C. Wilson, Andreas R. Janecke, Matthew E. Hurles, Warren Emmet, Brooke Gardiner, Berthold Streubel, Belinda Dopita, Andreas Zankl, Hülya Kayserili, Peter J. Scambler, Matthew A. Brown, Philip L. Beales, Carol Wicking, UK10K, Emma L. Duncan, Hannah M. Mitchison

Am J Hum Genet. 2013 Nov 7; 93(5): 932–944. doi: 10.1016/j.ajhg.2013.10.003