PMC Links for Nucleotide (Select 1021312032) - PMC

Select item 58493541.

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)

Yong Liu, Yu Cao, Yaxiong Li, Dongyun Lei, Lin Li, Zong Liu Hou, Shen Han, Mingyao Meng, Jianlin Shi, Yayong Zhang, Yi Wang, Zhaoyi Niu, Yanhua Xie, Benshan Xiao, Yuanfei Wang, Xiao Li, Lirong Yang, Wenju Wang, Lihong Jiang

Med Sci Monit. 2018; 24: 1340–1358. Published online 2018 Mar 5. doi: 10.12659/MSM.908923

PMCID:: PMC5849354

Abstract Article PDF–4.2M

Select item 37322862.

A Possible Mechanism behind Autoimmune Disorders Discovered By Genome-Wide Linkage and Association Analysis in Celiac Disease

Malin Östensson, Caroline Montén, Jonas Bacelis, Audur H. Gudjonsdottir, Svetlana Adamovic, Johan Ek, Henry Ascher, Elisabet Pollak, Henrik Arnell, Lars Browaldh, Daniel Agardh, Jan Wahlström, Staffan Nilsson, Åsa Torinsson-Naluai

PLoS One. 2013; 8(8): e70174. Published online 2013 Aug 2. doi: 10.1371/journal.pone.0070174

PMCID:: PMC3732286

Abstract Article PDF–1.7M

Select item 36224413.

Genome-Wide Association Analysis of Blood Biomarkers in Chronic Obstructive Pulmonary Disease

Deog Kyeom Kim, Michael H. Cho, Craig P. Hersh, David A. Lomas, Bruce E. Miller, Xiangyang Kong, Per Bakke, Amund Gulsvik, Alvar Agustí, Emiel Wouters, Bartolome Celli, Harvey Coxson, Jørgen Vestbo, William MacNee, Julie C. Yates, Stephen Rennard, Augusto Litonjua, Weiliang Qiu, Terri H. Beaty, James D. Crapo, John H. Riley, Ruth Tal-Singer, Edwin K. Silverman

Am J Respir Crit Care Med. 2012 Dec 15; 186(12): 1238–1247. Published online 2012 Dec 15. doi: 10.1164/rccm.201206-1013OC

PMCID:: PMC3622441

Abstract Article PDF–632K

Select item 34846524.

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

Heike Olbrich, Miriam Schmidts, Claudius Werner, Alexandros Onoufriadis, Niki T. Loges, Johanna Raidt, Nora Fanni Banki, Amelia Shoemark, Tom Burgoyne, Saeed Al Turki, Matthew E. Hurles, UK10K Consortium, Gabriele Köhler, Josef Schroeder, Gudrun Nürnberg, Peter Nürnberg, Eddie M.K. Chung, Richard Reinhardt, June K. Marthin, Kim G. Nielsen, Hannah M. Mitchison, Heymut Omran

Am J Hum Genet. 2012 Oct 5; 91(4): 672–684. doi: 10.1016/j.ajhg.2012.08.016

PMCID:: PMC3484652

Abstract Article PDF–1.5M

Select item 17357115.

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates

D Jeganathan, R Chodhari, M Meeks, O Faeroe, D Smyth, K Nielsen, I Amirav, A Luder, H Bisgaard, R Gardiner, E Chung, H Mitchison

J Med Genet. 2004 Mar; 41(3): 233–240. doi: 10.1136/jmg.2003.014084

PMCID:: PMC1735711

Summary PDF–568K

Select item 58173656.

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

Select item 53451667.

The birth of a human-specific neural gene by incomplete duplication and gene fusion

Max L. Dougherty, Xander Nuttle, Osnat Penn, Bradley J. Nelson, John Huddleston, Carl Baker, Lana Harshman, Michael H. Duyzend, Mario Ventura, Francesca Antonacci, Richard Sandstrom, Megan Y. Dennis, Evan E. Eichler

Genome Biol. 2017; 18: 49. Published online 2017 Mar 9. doi: 10.1186/s13059-017-1163-9

PMCID:: PMC5345166

Abstract Article PDF–2.9M

Select item 48978248.

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Vittoria Disciglio, Andrea Devecchi, Orazio Palumbo, Massimo Carella, Donata Penso, Massimo Milione, Giorgio Valle, Marco Alessandro Pierotti, Marco Vitellaro, Lucio Bertario, Silvana Canevari, Stefano Signoroni, Loris De Cecco

Chin J Cancer. 2016; 35: 51. Published online 2016 Jun 7. doi: 10.1186/s40880-016-0115-1

PMCID:: PMC4897824

Abstract Article PDF–1.3M

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