PMC Links for Books (Select 1482730) - PMC

Select item 66746891.

The Transcription Factor six1 Inhibits Neuronal and Promotes Hair Cell Fate in the Developing Zebrafish (Danio rerio) Inner Ear

Olivier Bricaud, Andres Collazo

J Neurosci. 2006 Oct 11; 26(41): 10438–10451. doi: 10.1523/JNEUROSCI.1025-06.2006

PMCID:: PMC6674689

Article PDF–777K

Select item 56750312.

Congenital hearing loss

Anna M. H. Korver, Richard J. H. Smith, Guy Van Camp, Mark R. Schleiss, Maria A. K. Bitner-Glindzicz, Lawrence R. Lustig, Shin-ichi Usami, An N. Boudewyns

Nat Rev Dis Primers. Author manuscript; available in PMC 2018 Jan 12.

Published in final edited form as: Nat Rev Dis Primers. 2017 Jan 12; 3: 16094. Published online 2017 Jan 12. doi: 10.1038/nrdp.2016.94

PMCID:: PMC5675031

Article PDF–1.6M

Select item 56702503.

Identification of novel cis-regulatory elements of Eya1 in Xenopus laevis using BAC recombineering

Santosh Kumar Maharana, Nicolas Pollet, Gerhard Schlosser

Sci Rep. 2017; 7: 15033. Published online 2017 Nov 3. doi: 10.1038/s41598-017-15153-7

PMCID:: PMC5670250

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

Article PDF–1.6M

Select item 42221855.

A framework for the interpretation of de novo mutation in human disease

Kaitlin E. Samocha, Elise B. Robinson, Stephan J. Sanders, Christine Stevens, Aniko Sabo, Lauren M. McGrath, Jack A. Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby, Dennis P. Wall, Daniel G. MacArthur, Stacey B. Gabriel, Mark dePristo, Shaun M. Purcell, Aarno Palotie, Eric Boerwinkle, Joseph D. Buxbaum, Edwin H. Cook, Jr., Richard A. Gibbs, Gerard D. Schellenberg, James S. Sutcliffe, Bernie Devlin, Kathryn Roeder, Benjamin M. Neale, Mark J. Daly

Nat Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Nat Genet. 2014 Sep; 46(9): 944–950. Published online 2014 Aug 3. doi: 10.1038/ng.3050

PMCID:: PMC4222185

Article PDF–365K

Select item 38306626.

Genome-wide copy number variation analysis of a Branchio-Oto-Renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes

Patrick D. Brophy, Fatemeh Alasti, Benjamin W. Darbro, Jason Clarke, Carla Nishimura, Bryan Cobb, Richard J. Smith, J. Robert Manak

Hum Genet. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Hum Genet. 2013 Dec; 132(12): 10.1007/s00439-013-1338-8. Published online 2013 Jul 13. doi: 10.1007/s00439-013-1338-8

PMCID:: PMC3830662

Article PDF–1.2M

Select item 36058827.

HERV-Mediated Genomic Rearrangement of EYA1 in an Individual With Branchio-oto-renal Syndrome

Amarilis Sanchez-Valle, Xueqing Wang, Lorraine Potocki, Zhilian Xia, Sung-Hae L. Kang, Mary E. Carlin, Donnice Michel, Patricia Williams, Gerardo Cabrera-Meza, Ellen K. Brundage, Anna L. Eifert, Pawel Stankiewicz, Sau Wai Cheung, Seema R. Lalani

Am J Med Genet A. Author manuscript; available in PMC 2013 Mar 22.

Published in final edited form as: Am J Med Genet A. 2010 Nov; 152A(11): 2854–2860. doi: 10.1002/ajmg.a.33686

PMCID:: PMC3605882

Article PDF–751K

Select item 31109448.

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

Genetic Evaluation of Congenital Hearing Loss Expert Panel

Version 1. Genet Med. 2002 May-Jun; 4(3): 162–171. doi: 10.1097/00125817-200205000-00011

PMCID:: PMC3110944

Article PDF–132K

Select item 27428429.

Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations

Aaron N. Patrick, Barbara J. Schiemann, Kui Yang, Rui Zhao, Heide L. Ford

J Biol Chem. 2009 Jul 31; 284(31): 20781–20790. Published online 2009 Jun 4. doi: 10.1074/jbc.M109.016832

PMCID:: PMC2742842

Article PDF–3.7M

Select item 250455210.

A Comparative Study of Eya1 and Eya4 Protein Function and Its Implication in Branchio-oto-renal Syndrome and DFNA10

Yuzhou Zhang, Boyd M. Knosp, Mark Maconochie, Rick A. Friedman, Richard J.H. Smith

J Assoc Res Otolaryngol. 2004 Sep; 5(3): 295–304. Published online 2004 Jun 24. doi: 10.1007/s10162-004-4044-3

PMCID:: PMC2504552

Article PDF–382K

Select item 185271911.

Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

Bethan E. Hoskins, Carl H. Cramer, Derek Silvius, Dan Zou, Richard M. Raymond, Dana J. Orten, William J. Kimberling, Richard J. H. Smith, Dominique Weil, Christine Petit, Edgar A. Otto, Pin-Xian Xu, Friedhelm Hildebrandt

Am J Hum Genet. 2007 Apr; 80(4): 800–804. Published online 2007 Feb 22. doi: 10.1086/513322

PMCID:: PMC1852719

Article PDF–273K

Select item 169894912.

A Map of the Interactome Network of the Metazoan C. elegans

Siming Li, Christopher M. Armstrong, Nicolas Bertin, Hui Ge, Stuart Milstein, Mike Boxem, Pierre-Olivier Vidalain, Jing-Dong J. Han, Alban Chesneau, Tong Hao, Debra S. Goldberg, Ning Li, Monica Martinez, Jean-François Rual, Philippe Lamesch, Lai Xu, Muneesh Tewari, Sharyl L. Wong, Lan V. Zhang, Gabriel F. Berriz, Laurent Jacotot, Philippe Vaglio, Jérôme Reboul, Tomoko Hirozane-Kishikawa, Qianru Li, Harrison W. Gabel, Ahmed Elewa, Bridget Baumgartner, Debra J. Rose, Haiyuan Yu, Stephanie Bosak, Reynaldo Sequerra, Andrew Fraser, Susan E. Mango, William M. Saxton, Susan Strome, Sander van den Heuvel, Fabio Piano, Jean Vandenhaute, Claude Sardet, Mark Gerstein, Lynn Doucette-Stamm, Kristin C. Gunsalus, J. Wade Harper, Michael E. Cusick, Frederick P. Roth, David E. Hill, Marc Vidal

Science. Author manuscript; available in PMC 2006 Dec 14.

Published in final edited form as: Science. 2004 Jan 23; 303(5657): 540–543. Published online 2004 Jan 2. doi: 10.1126/science.1091403

PMCID:: PMC1698949

Article PDF–1.4M

Select item 145041913.

Using Drosophila to Decipher How Mutations Associated With Human Branchio-Oto-Renal Syndrome and Optical Defects Compromise the Protein Tyrosine Phosphatase and Transcriptional Functions of Eyes Absent

Mousumi Mutsuddi, Benjamin Chaffee, Justin Cassidy, Serena J. Silver, Tina L. Tootle, Ilaria Rebay

Genetics. 2005 Jun; 170(2): 687–695. doi: 10.1534/genetics.104.039156

PMCID:: PMC1450419

Article PDF–456K

Select item 137804514.

A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.

A A Salam, F M Häfner, T E Linder, T Spillmann, A A Schinzel, S M Leal

Am J Hum Genet. 2000 Jun; 66(6): 1984–1988. Published online 2000 Apr 24. doi: 10.1086/302931

PMCID:: PMC1378045

Summary PDF–193K

Select item 41956215.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

Rainer G. Ruf, Pin-Xian Xu, Derek Silvius, Edgar A. Otto, Frank Beekmann, Ulla T. Muerb, Shrawan Kumar, Thomas J. Neuhaus, Markus J. Kemper, Richard M. Raymond, Jr., Patrick D. Brophy, Jennifer Berkman, Michael Gattas, Valentine Hyland, Eva-Maria Ruf, Charles Schwartz, Eugene H. Chang, Richard J. H. Smith, Constantine A. Stratakis, Dominique Weil, Christine Petit, Friedhelm Hildebrandt

Proc Natl Acad Sci U S A. 2004 May 25; 101(21): 8090–8095. Published online 2004 May 12. doi: 10.1073/pnas.0308475101

PMCID:: PMC419562

Article PDF–597K

Select item 18098916.

Functional Dissection of Eyes absent Reveals New Modes of Regulation within the Retinal Determination Gene Network

Serena J. Silver, Erin L. Davies, Laura Doyon, Ilaria Rebay

Mol Cell Biol. 2003 Sep; 23(17): 5989–5999. doi: 10.1128/MCB.23.17.5989-5999.2003

PMCID:: PMC180989

Article PDF–326K

Select item 8467817.

Cooperation of Six and Eya in Activation of Their Target Genes through Nuclear Translocation of Eya

Hiromi Ohto, Sayaka Kamada, Kenji Tago, Shin-Ichi Tominaga, Hidenori Ozaki, Shigeru Sato, Kiyoshi Kawakami

Mol Cell Biol. 1999 Oct; 19(10): 6815–6824. doi: 10.1128/mcb.19.10.6815

PMCID:: PMC84678

Article PDF–1.2M

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