Concepedia

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri, Lucie Thomas, Ludovic Jeanson, Émilie Béquignon, Benoit Vallette, Philippe Duquesnoy, Guy Montantin, Bruno Copin, Florence Dastot‐Le Moal, Sylvain Blanchon,

The American Journal of Human Genetics · 2016 · 104 citations · 27 references

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27

Intraflagellar transport (IFT) cargo

Hongmin Qin, Dennis R. Diener, Stefan Geimer et al. · The Journal of Cell Biology · 2004 · 357 citations · Full text

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Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

Victoria Castleman, Leila Romio, Rahul Chodhari et al. · The American Journal of Human Genetics · 2009 · 346 citations · Full text

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Heike Olbrich, Miriam Schmidts, Claudius Werner et al. · The American Journal of Human Genetics · 2012 · 300 citations · Full text

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Mutations in <i>RSPH1</i> Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh et al. · American Journal of Respiratory and Critical Care Medicine · 2014 · 229 citations

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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin et al. · The American Journal of Human Genetics · 2013 · 183 citations · Full text

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