PMC Links for Books (Select 1464046) - PMC

Jong G. Park, Max A. Tischfield, Alicia A. Nugent, Long Cheng, Silvio Alessandro Di Gioia, Wai-Man Chan, Gail Maconachie, Thomas M. Bosley, C. Gail Summers, David G. Hunter, Caroline D. Robson, Irene Gottlob, Elizabeth C. Engle

Am J Hum Genet. 2016 Jun 2; 98(6): 1220–1227. Published online 2016 May 12. doi: 10.1016/j.ajhg.2016.03.023

PMCID:: PMC4908193

Abstract Article PDF–2.0M

Select item 47319254.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 42204005.

Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

Malvika Gupta, Om Prakash Gupta, Vishal Vohra

Oman J Ophthalmol. 2014 Sep-Dec; 7(3): 135–137. doi: 10.4103/0974-620X.142596

PMCID:: PMC4220400

Abstract Article

Select item 41761956.

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3

Anna Baroncini, Sara Bertuzzo, Rita Quarantini, Paolo Ricciardelli, Roberto Giorda, Maria Clara Bonaglia

Mol Cytogenet. 2013; 6: 49. Published online 2013 Nov 8. doi: 10.1186/1755-8166-6-49

PMCID:: PMC4176195

Abstract Article PDF–432K

Select item 40989667.

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease: The Genetic Basis of Incomitant Strabismus

Carolyn P. Graeber, David G. Hunter, Elizabeth C. Engle

Semin Ophthalmol. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Semin Ophthalmol. 2013 Sep-Nov; 28(0): 427–437. doi: 10.3109/08820538.2013.825288

PMCID:: PMC4098966

Abstract Article PDF–967K

Select item 38518378.

A Gata3–Mafb transcriptional network directs post-synaptic differentiation in synapses specialized for hearing

Wei-Ming Yu, Jessica M Appler, Ye-Hyun Kim, Allison M Nishitani, Jeffrey R Holt, Lisa V Goodrich

eLife. 2013; 2: e01341. Published online 2013 Dec 10. doi: 10.7554/eLife.01341

PMCID:: PMC3851837

Abstract Article PDF–5.4M

Select item 36548429.

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome

Ming-ming Yang, Mary Ho, Henry H.W. Lau, Pancy O.S. Tam, Alvin L. Young, Chi Pui Pang, Wilson W.K. Yip, LiJia Chen

Mol Vis. 2013; 19: 986–994. Published online 2013 May 6.

PMCID:: PMC3654842

Abstract Article PDF–2.6M

Select item 351717310.

Two novel CHN1 mutations in two families with Duane’s retraction syndrome

Ms Wai-Man Chan, Dr Noriko Miyake, Dr Lily Zhu-Tam, Ms Caroline Andrews, Dr Elizabeth C. Engle

Arch Ophthalmol. Author manuscript; available in PMC 2012 Dec 7.

Published in final edited form as: Arch Ophthalmol. 2011 May; 129(5): 649–652. doi: 10.1001/archophthalmol.2011.84

PMCID:: PMC3517173

Abstract Article PDF–1.2M

Select item 333022111.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

Cyril Amouroux, Marie Vincent, Patricia Blanchet, Jacques Puechberty, Anouck Schneider, Anne Marie Chaze, Manon Girard, Magali Tournaire, Christian Jorgensen, Denis Morin, Pierre Sarda, Geneviève Lefort, David Geneviève

Eur J Hum Genet. 2012 May; 20(5): 580–583. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.243

PMCID:: PMC3330221

Abstract Article PDF–227K

Select item 330918312.

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul J. Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P. Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. Mitchell, Geert R. Mortier, Stephen P. Robertson, Marie Schroeder, Paulien Terhal, Matthew A. Brown

Am J Hum Genet. 2012 Mar 9; 90(3): 494–501. doi: 10.1016/j.ajhg.2012.01.003

Correction in:: Am J Hum Genet. 2014 Apr 3; 94(4): 643.

PMCID:: PMC3309183

Abstract Article PDF–903K

Select item 317599213.

Expansion of the CHN1 Strabismus Phenotype

Noriko Miyake, Joseph L. Demer, Sherin Shaaban, Caroline Andrews, Wai-Man Chan, Stephen P. Christiansen, David G. Hunter, Elizabeth C. Engle

Invest Ophthalmol Vis Sci. 2011 Aug; 52(9): 6321–6328. Published online 2011 Aug 11. doi: 10.1167/iovs.11-7950

PMCID:: PMC3175992

Abstract Article PDF–2.1M

Select item 294121614.

A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

Terri H Beaty, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Ingo Ruczinski, Jacqueline B Hetmanski, Kung Yee Liang, Tao Wu, Tanda Murray, M Daniele Fallin, Richard A Redett, Gerald Raymond, Holger Schwender, Shin C Jin, Margaret E Cooper, Martine Dunnwald, Maria A Mansilla, Elizabeth Leslie, Stephen Bullard, Andrew C Lidral, Lina M Moreno, Renato Menezes, Alexandre R Vieira, Aline Petrin, Allen J Wilcox, Rolv T Lie, Ethylin W Jabs, Yah Huei Wu-Chou, Philip K Chen, Hong Wang, Xiaoqian Ye, Shangzhi Huang, Vincent Yeow, Samuel S Chong, Sun Ha Jee, Bing Shi, Kaare Christensen, Doheny Kimberly, W Pugh Elizabeth, Ling Hua, E Castilla Eduardo, Andrew E Czeizel, Lian Ma, L Leigh Field, Lawrence Brody, Faith Pangilinan, James L Mills, Anne M Molloy, Peadar N Kirke, John M Scott, Mauricio Arcos-Burgos, Alan F Scott

Nat Genet. Author manuscript; available in PMC 2010 Sep 17.

Published in final edited form as: Nat Genet. 2010 Jun; 42(6): 525–529. Published online 2010 May 2. doi: 10.1038/ng.580

Correction in:: volume 42 on page 727

PMCID:: PMC2941216

Abstract Article PDF–1.2M

Select item 282929515.

Two pedigrees segregating Duane’s retraction syndrome as a dominant trait map to the DURS2 genetic locus

Elizabeth C. Engle, Caroline Andrews, Krystal Law, Joseph L. Demer

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Feb 26.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2007 Jan; 48(1): 189–193. doi: 10.1167/iovs.06-0631

PMCID:: PMC2829295

Abstract Article PDF–196K

Select item 280188916.

CHN1 Mutations are not a Common Cause of Sporadic Duane’s Retraction Syndrome

Noriko Miyake, Caroline Andrews, Wen Fan, Wei He, Wai-Man Chan, Elizabeth C. Engle

Am J Med Genet A. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Am J Med Genet A. 2010 Jan; 152A(1): 215–217. doi: 10.1002/ajmg.a.33168

PMCID:: PMC2801889

Article PDF–50K

Select item 259386717.

Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane’s retraction syndrome

Noriko Miyake, John Chilton, Maria Psatha, Long Cheng, Caroline Andrews, Wai-Man Chan, Krystal Law, Moira Crosier, Susan Lindsay, Michelle Cheung, James Allen, Nick J Gutowski, Sian Ellard, Elizabeth Young, Alessandro Iannaccone, Binoy Appukuttan, J. Timothy Stout, Stephen Christiansen, Maria Laura Ciccarelli, Alfonso Baldi, Mara Campioni, Juan C. Zenteno, Dominic Davenport, Laura E. Mariani, Mustafa Sahin, Sarah Guthrie, Elizabeth C. Engle

Science. Author manuscript; available in PMC 2009 Feb 8.

Published in final edited form as: Science. 2008 Aug 8; 321(5890): 839–843. Published online 2008 Jul 24. doi: 10.1126/science.1156121

PMCID:: PMC2593867

Abstract Article PDF–2.4M

Select item 185062918.

Magnetic Resonance Imaging Evidence for Widespread Orbital Dysinnervation in Dominant Duane’s Retraction Syndrome Linked to the DURS2 Locus

Joseph L. Demer, Robert A. Clark, Key-Hwan Lim, Elizabeth C. Engle

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2008 Jan 1.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2007 Jan; 48(1): 194–202. doi: 10.1167/iovs.06-0632

PMCID:: PMC1850629

Abstract Article PDF–958K

Select item 184732719.

High-Resolution Magnetic Resonance Imaging Demonstrates Abnormalities of Motor Nerves and Extraocular Muscles in Patients With Neuropathic Strabismus

Joseph L. Demer, Maria Carolina Ortube, Elizabeth C. Engle, Neepa Thacker

J AAPOS. Author manuscript; available in PMC 2007 Apr 2.

Published in final edited form as: J AAPOS. 2006 Apr; 10(2): 135–142. doi: 10.1016/j.jaapos.2005.12.006

PMCID:: PMC1847327

Abstract Article PDF–1.1M

Select item 173588820.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Muhlendyck, R Winter, O Giray, F Silan, J Kohlhase

J Med Genet. 2004 Sep; 41(9): e113. doi: 10.1136/jmg.2004.019901

PMCID:: PMC1735888

Summary PDF–418K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 1 to 20 of 25

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity