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Select item 12882111.

A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred

Franziska M. Häfner, Ambar A. Salam, Thomas E. Linder, Damina Balmer, Allessandra Baumer, Albert A. Schinzel, Thomas Spillmann, Suzanne M. Leal

Am J Hum Genet. 2000 Apr; 66(4): 1437–1442. Published online 2000 Mar 17. doi: 10.1086/302865

PMCID:: PMC1288211

Article PDF–202K

Select item 74139632.

First Report of Bilateral External Auditory Canal Cochlin Aggregates (“Cochlinomas”) with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin

Atreyee Basu, Nicole J. Boczek, Nahid G. Robertson, Samih H. Nasr, Daniel Jethanamest, Ellen D. McPhail, Paul J. Kurtin, Surendra Dasari, Malinda Butz, Cynthia C. Morton, W. Edward Highsmith, Fang Zhou

Head Neck Pathol. 2020 Sep; 14(3): 808–816. Published online 2019 Sep 6. doi: 10.1007/s12105-019-01073-7

PMCID:: PMC7413963

Article PDF–2.0M

Select item 72997293.

Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families

Xiaohui Bai, Fengguo Zhang, Yun Xiao, Yu Jin, Qingyin Zheng, Haibo Wang, Lei Xu

J Cell Mol Med. 2020 Jun; 24(12): 6978–6987. Published online 2020 May 11. doi: 10.1111/jcmm.15359

PMCID:: PMC7299729

Article PDF–1.1M

Select item 59700984.

MYH9: STRUCTURE, FUNCTIONS AND ROLE OF NON-MUSCLE MYOSIN IIA IN HUMAN DISEASE

Alessandro Pecci, Xuefei Ma, Anna Savoia, Robert S. Adelstein

Gene. Author manuscript; available in PMC 2019 Jul 20.

Published in final edited form as: Gene. 2018 Jul 20; 664: 152–167. Published online 2018 Apr 19. doi: 10.1016/j.gene.2018.04.048

PMCID:: PMC5970098

Article PDF–1.2M

Select item 54582615.

DFNA5 promoter methylation a marker for breast tumorigenesis

Lieselot Croes, Ken Op de Beeck, Patrick Pauwels, Wim Vanden Berghe, Marc Peeters, Erik Fransen, Guy Van Camp

Oncotarget. 2017 May 9; 8(19): 31948–31958. Published online 2017 Mar 29. doi: 10.18632/oncotarget.16654

PMCID:: PMC5458261

Article PDF–3.8M

Select item 54352236.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss

Tomohiro Kitano, Maiko Miyagawa, Shin-ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-ichi Nakamura, Takaaki Murata, Rina Matsuoka, Yoko Ohta, Nobuhiro Nishiyama, Kozo Kumakawa, Sakiko Furutate, Satoshi Iwasaki, Takechiyo Yamada, Yumi Ohta, Natsumi Uehara, Yoshihiro Noguchi, Shin-ichi Usami

PLoS One. 2017; 12(5): e0177636. Published online 2017 May 17. doi: 10.1371/journal.pone.0177636

PMCID:: PMC5435223

Article PDF–2.7M

Select item 52972397.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams, Maria Bitner-Glindzicz

Orphanet J Rare Dis. 2017; 12: 24. Published online 2017 Feb 7. doi: 10.1186/s13023-017-0582-8

PMCID:: PMC5297239

Article PDF–1.4M

Select item 45230528.

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

Article PDF–656K

Select item 39679959.

Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis

Hidekane Yoshimura, Yutaka Takumi, Shin-ya Nishio, Nobuyoshi Suzuki, Yoh-ichiro Iwasa, Shin-ichi Usami

PLoS One. 2014; 9(3): e92547. Published online 2014 Mar 27. doi: 10.1371/journal.pone.0092547

PMCID:: PMC3967995

Article PDF–1.4M

Select item 333847610.

Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma, Patrizia Noris, Ugo Ramenghi, Giuseppe Loffredo, Fabrizio Fabris, Stefania Momi, Umberto Magrini, Mario Pirastu, Anna Savoia, Carlo Balduini, Paolo Gresele, for the Italian Registry for MYH9-releated diseases

PLoS One. 2012; 7(4): e35986. Published online 2012 Apr 25. doi: 10.1371/journal.pone.0035986

PMCID:: PMC3338476

Article PDF–317K

Select item 283030711.

miRNA Mutations are Not a Common Cause of Deafness

Michael S. Hildebrand, P. Dane Witmer, Shunbin Xu, Stephen S. Newton, Kimia Kahrizi, Hossein Najmabadi, David Valle, Richard J.H. Smith

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

Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 646–652. doi: 10.1002/ajmg.a.33299

PMCID:: PMC2830307

Article PDF–258K

Select item 257605312.

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Julie Desir, Marc Abramowicz

Orphanet J Rare Dis. 2008; 3: 28. Published online 2008 Oct 15. doi: 10.1186/1750-1172-3-28

PMCID:: PMC2576053

Article PDF–485K

Select item 232296213.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

Su Zhang, Ke Yin, Xiang Ren, Pengyun Wang, Shirong Zhang, Lingling Cheng, Junguo Yang, Jing Yu Liu, Mugen Liu, Qing Kenneth Wang

BMC Med Genet. 2008; 9: 24. Published online 2008 Apr 9. doi: 10.1186/1471-2350-9-24

PMCID:: PMC2322962

Article PDF–724K

Select item 173521514.

A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

S Blanton, C Liang, M Cai, A Pandya, L Du L, B Landa, S Mummalanni, K Li, Z Chen, X Qin, Y Liu, T Balkany, W Nance, X Liu

J Med Genet. 2002 Aug; 39(8): 567–570. doi: 10.1136/jmg.39.8.567

PMCID:: PMC1735215

Summary PDF–243K

Select item 171244015.

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

K Verhoeven, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems

Am J Hum Genet. 1997 May; 60(5): 1168–1173.

PMCID:: PMC1712440

Summary Page Browse PDF–918K

Select item 137808416.

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

K Fukushima, N Kasai, Y Ueki, K Nishizaki, K Sugata, S Hirakawa, A Masuda, M Gunduz, Y Ninomiya, Y Masuda, M Sato, W T McGuirt, P Coucke, G Van Camp, R J Smith

Am J Hum Genet. 1999 Jul; 65(1): 141–150. doi: 10.1086/302461