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Select item 47952081.

Partial USH2A deletions contribute to Usher syndrome in Denmark

Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen, Lisbeth B Møller

Eur J Hum Genet. 2015 Dec; 23(12): 1646–1651. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.54

Correction in:: Eur J Hum Genet. 2015 Dec; 23(12): 1750.

PMCID:: PMC4795208

Abstract Article PDF–1.2M

Select item 31571522.

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice

Shehnaaz S.M. Manji, Kerry A. Miller, Louise H. Williams, Lotte Andreasen, Maria Siboe, Elizabeth Rose, Melanie Bahlo, Michael Kuiper, Hans-Henrik M. Dahl

Am J Pathol. 2011 Aug; 179(2): 903–914. doi: 10.1016/j.ajpath.2011.04.002

PMCID:: PMC3157152

Abstract Article PDF–4.7M

Select item 32766733.

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma Beatriz Romero, Robert Yves Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, Carsten G. Bönnemann, Johannes Zschocke, Christine Fauth

Am J Hum Genet. 2012 Feb 10; 90(2): 201–216. doi: 10.1016/j.ajhg.2011.12.004

PMCID:: PMC3276673

Abstract Article PDF–1.3M

Select item 35181404.

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Tobias Eisenberger, Rima Slim, Ahmad Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno Jörn Bolz

Orphanet J Rare Dis. 2012; 7: 59. Published online 2012 Sep 2. doi: 10.1186/1750-1172-7-59

PMCID:: PMC3518140

Abstract Article PDF–836K

Select item 35822755.

A Novel COL4A3 Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family

Asli Subasioglu Uzak, Bulent Tokgoz, Munis Dundar, Mustafa Tekin

Genet Test Mol Biomarkers. 2013 Mar; 17(3): 260–264. doi: 10.1089/gtmb.2012.0340

PMCID:: PMC3582275

Abstract Article PDF–206K

Select item 38395436.

COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome

Helen Storey, Judy Savige, Vanessa Sivakumar, Stephen Abbs, Frances A. Flinter

J Am Soc Nephrol. 2013 Dec; 24(12): 1945–1954. Published online 2013 Sep 19. doi: 10.1681/ASN.2012100985

PMCID:: PMC3839543

Abstract Article

Select item 38888277.

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A

Jennifer B. Phillips, Hanna Västinsalo, Jeremy Wegner, Aurélie Clément, Eeva-Marja Sankila, Monte Westerfield

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

Published in final edited form as: Gene Expr Patterns. 2013 Dec; 13(8): 473–481. Published online 2013 Sep 14. doi: 10.1016/j.gep.2013.09.001

PMCID:: PMC3888827

Abstract Article PDF–3.9M

Select item 39209188.

Modulation of Wolframin Expression in Human Placenta during Pregnancy: Comparison among Physiological and Pathological States

Angela Lucariello, Angelica Perna, Carmine Sellitto, Alfonso Baldi, Alessandro Iannaccone, Luigi Cobellis, Antonio De Luca, Maria De Falco

Biomed Res Int. 2014; 2014: 985478. Published online 2014 Jan 23. doi: 10.1155/2014/985478

PMCID:: PMC3920918

Abstract Article PDF–3.8M

Select item 41174909.

Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Xue Gao, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Ming-Yu Han, Jing-Qiao Lu, Hui Zhao, Fei Yu, Jin-Cao Xu, Mei-Guang Zhang, Jiang Dong, Xi Lin, Pu Dai

PLoS One. 2014; 9(7): e103415. Published online 2014 Jul 31. doi: 10.1371/journal.pone.0103415

Correction in:: PLoS One. 2015; 10(10): e0137883.

PMCID:: PMC4117490

Abstract Article PDF–1.4M

Select item 422563310.

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna C. Thomas, Hywel Williams, Núria Setó-Salvia, Chiara Bacchelli, Dagan Jenkins, Mary O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew J. Duncan, Yun Jin Pai, Jorge M. Saraiva, Fabiana Ramos, Bernadette Farren, Dawn Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas W. Wood, Joshua Hersheson, Henry Houlden, Jane Hurst, Richard Scott, Maria Bitner-Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier

Am J Hum Genet. 2014 Nov 6; 95(5): 611–621. doi: 10.1016/j.ajhg.2014.10.007

Correction in:: Am J Hum Genet. 2015 Jun 4; 96(6): 1008–1009.

PMCID:: PMC4225633

Abstract Article PDF–1.7M

Select item 426768511.

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Hela Azaiez, Kevin T. Booth, Fengxiao Bu, Patrick Huygen, Seiji Shibata, A. Eliot Shearer, Diana Kolbe, Nicole Meyer, E. Ann Black-Ziegelbein, Richard J.H. Smith

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 819–823. Published online 2014 May 6. doi: 10.1002/humu.22557

PMCID:: PMC4267685

Abstract Article PDF–218K

Select item 438626512.

Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance

Judy Savige, Shivanand Sheth, Anita Leys, Anjali Nicholson, Heather G. Mack, Deb Colville

Clin J Am Soc Nephrol. 2015 Apr 7; 10(4): 703–709. Published online 2015 Feb 3. doi: 10.2215/CJN.10581014

PMCID:: PMC4386265

Abstract Article

Select item 451134113.

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

Denise Yan, Xiaomei Ouyang, D Michael Patterson, Li Lin Du, Samuel G Jacobson, Xue-Zhong Liu

J Hum Genet. Author manuscript; available in PMC 2015 Jul 22.

Published in final edited form as: J Hum Genet. 2009 Dec; 54(12): 732–738. Published online 2009 Oct 30. doi: 10.1038/jhg.2009.107

PMCID:: PMC4511341

Abstract Article PDF–490K

Select item 452305214.

Genetics of Hearing and Deafness

SIMON ANGELI, XI LIN, XUE ZHONG LIU

Anat Rec (Hoboken) Author manuscript; available in PMC 2015 Aug 3.

Published in final edited form as: Anat Rec (Hoboken). 2012 Nov; 295(11): 1812–1829. Published online 2012 Oct 8. doi: 10.1002/ar.22579

Correction in:: Anat Rec (Hoboken). 2015 Nov; 298(11): 1815.

PMCID:: PMC4523052

Abstract Article PDF–656K

Select item 453968115.

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

Malika Dahmani, Fatima Ammar-Khodja, Crystel Bonnet, Gaelle M. Lefèvre, Jean-Pierre Hardelin, Hassina Ibrahim, Zahia Mallek, Christine Petit

Orphanet J Rare Dis. 2015; 10: 96. Published online 2015 Aug 19. doi: 10.1186/s13023-015-0316-8

PMCID:: PMC4539681

Abstract Article PDF–963K

Select item 459297216.

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1

Xuli Qian, Luyang Qin, Guangqian Xing, Xin Cao

Sci Rep. 2015; 5: 14731. Published online 2015 Oct 5. doi: 10.1038/srep14731

PMCID:: PMC4592972

Abstract Article PDF–1.2M

Select item 313072317.

Molecular epidemiology of Usher syndrome in Italy

Diego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis, Anna Berto, Antonella Fabretto, Danilo Licastro, Maigi Külm, Francesco Testa, Patrizia Trevisi, Marju Vahter, Carmela Ziviello, Alessandro Martini, Francesca Simonelli, Sandro Banfi, Paolo Gasparini

Mol Vis. 2011; 17: 1662–1668. Published online 2011 Jun 22.

PMCID:: PMC3130723

Abstract Article PDF–594K

Select item 481721818.

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta

J Hum Genet. Author manuscript; available in PMC 2016 Sep 22.

Published in final edited form as: J Hum Genet. 2016 Apr; 61(4): 295–300. Published online 2015 Dec 10. doi: 10.1038/jhg.2015.149

PMCID:: PMC4817218

Abstract Article PDF–1.0M

Select item 483132419.

RNA‐sequencing of WFS1‐deficient pancreatic islets

Marilin Ivask, Alison Hugill, Sulev Kõks

Physiol Rep. 2016 Apr; 4(7): e12750. Published online 2016 Apr 6. doi: 10.14814/phy2.12750

PMCID:: PMC4831324

Abstract Article PDF–925K

Select item 483361320.

MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform

M’hamed Grati, Denise Yan, Manmeet H. Raval, Tom Walsh, Qi Ma, Imen Chakchouk, Abhiraami Kannan-Sundhari, Rahul Mittal, Saber Masmoudi, Susan H. Blanton, Mustafa Tekin, Mary-Claire King, Christopher M. Yengo, Xue Zhong Liu

Hum Mutat. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: Hum Mutat. 2016 May; 37(5): 481–487. Published online 2016 Feb 16. doi: 10.1002/humu.22961

PMCID:: PMC4833613

Abstract Article PDF–819K

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