PMC Links for Nucleotide (Select 1675017831) - PMC

Select item 38886131.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, Chela T James, Miriam Schmidts, Mitali Patel, Elisabeth M Rosser, Chiara Bacchelli, Philip L Beales, Peter J Scambler, Stephen L Hart, Jeannette E Danke-Roelse, John J Sloper, Sarah Hull, Claire Hogg, Richard D Emes, Gerard Pals, Anthony T Moore, Eddie M K Chung, UK10K, Hannah M Mitchison

J Med Genet. 2014 Jan; 51(1): 61–67. Published online 2013 Nov 7. doi: 10.1136/jmedgenet-2013-101938

PMCID:: PMC3888613

Abstract Article PDF–8.3M

Select item 38391142.

Gudu, an Armadillo repeat-containing protein, is required for spermatogenesis in Drosophila

Wei Cheng, Y. Tony Ip, Zuoshang Xu

Gene. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Gene. 2013 Dec 1; 531(2): 10.1016/j.gene.2013.08.080. Published online 2013 Sep 17. doi: 10.1016/j.gene.2013.08.080

PMCID:: PMC3839114

Abstract Article PDF–3.5M

Select item 37388283.

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A. Zariwala, Xiaoqin Liu, You Li, Rama Damerla, Gerard W. Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T. Loges, Petra Pennekamp, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehlivan, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes-Mugica, James R. Lupski, Margaret W. Leigh, Margaret Rosenfeld, Lucy C. Morgan, Michael R. Knowles, Cecilia W. Lo, Nicholas Katsanis, Heymut Omran

Am J Hum Genet. 2013 Aug 8; 93(2): 357–367. doi: 10.1016/j.ajhg.2013.06.009

PMCID:: PMC3738828

Abstract Article PDF–2.9M

Select item 35225874.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 58173655.

Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

Lv Liu, Hong Luo

Biomed Res Int. 2018; 2018: 1854269. Published online 2018 Jan 8. doi: 10.1155/2018/1854269

PMCID:: PMC5817365

Abstract Article PDF–1.4M

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