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Items: 1 to 20 of 26

1.
Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene
Julie Moyaert, Annick Gilles, Griet Mertens, Marc J. W. Lammers, Hanne Gommeren, Sebastien Janssens de Varebeke, Erik Fransen, Nicolas Verhaert, Sam Denys, Raymond van de Berg, Ronald Pennings, Olivier Vanderveken, Vincent Van Rompaey
Sci Rep. 2024; 14: 184. Published online 2024 Jan 2. doi: 10.1038/s41598-023-50583-6
PMCID:
PMC10762206
AbstractArticlePDF–1.9M
2.
Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo
Dis Model Mech. 2023 Aug 1; 16(8): dmm049757. Published online 2023 Aug 17. doi: 10.1242/dmm.049757
PMCID:
PMC10445743
AbstractArticle
3.
GATA3 Mutations Found in Breast Cancers May Be Associated with Aberrant Nuclear Localization, Reduced Transactivation and Cell Invasiveness
Katherine U. Gaynor, Irina V. Grigorieva, Michael D. Allen, Christopher T. Esapa, Rosemary A. Head, Preethi Gopinath, Paul T. Christie, M. Andrew Nesbit, J. Louise Jones, Rajesh V. Thakker
Horm Cancer. 2013 Jun; 4(3): 123–139. Published online 2013 Feb 22. doi: 10.1007/s12672-013-0138-x
PMCID:
PMC10358003
AbstractArticlePDF–1.0M
4.
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient
Bin Zuo, Hongen Xu, Zhaoyu Pan, Lu Mao, Haifeng Feng, Beiping Zeng, Wenxue Tang, Wei Lu
BMC Med Genomics. 2022; 15: 220. Published online 2022 Oct 21. doi: 10.1186/s12920-022-01374-x
PMCID:
PMC9590123
AbstractArticlePDF–949K
5.
AudioGene: Refining the Natural History of KCNQ4, GSDME, WFS1, and COCH-Associated Hearing Loss
Ryan K. Thorpe, W. Daniel Walls, Rae Corrigan, Amanda Schaefer, Kai Wang, Patrick Huygen, Thomas L. Casavant, Richard J.H. Smith
Hum Genet. Author manuscript; available in PMC 2022 May 11.
Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 877–887. Published online 2022 Jan 17. doi: 10.1007/s00439-021-02424-7
PMCID:
PMC9092196
AbstractArticlePDF–950K
6.
Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers
Sebastien P. F. JanssensdeVarebeke, Julie Moyaert, Erik Fransen, Britt Bulen, Celine Neesen, Katrien Devroye, Raymond van de Berg, Ronald J. E. Pennings, Vedat Topsakal, Olivier Vanderveken, Guy Van Camp, Vincent Van Rompaey
Ear Hear. 2021 Nov-Dec; 42(6): 1508–1524. Published online 2021 Oct 22. doi: 10.1097/AUD.0000000000001099
PMCID:
PMC8542086
AbstractArticlePDF–1.4M
7.
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype
Jinying Li, Hongen Xu, Jianfeng Sun, Yongan Tian, Danhua Liu, Yaping Qin, Huanfei Liu, Ruijun Li, Lingling Neng, Xiaohua Deng, Binbin Xue, Changyun Yu, Wenxue Tang
Biomed Res Int. 2021; 2021: 6624744. Published online 2021 Mar 4. doi: 10.1155/2021/6624744
PMCID:
PMC8260318
AbstractArticlePDF–1.2M
8.
A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities
Dan Bai, Xudong Zhang, Yu Li, Jing Ni, Kai Lan
Biomed Res Int. 2021; 2021: 5574136. Published online 2021 Jun 21. doi: 10.1155/2021/5574136
PMCID:
PMC8238589
AbstractArticlePDF–1.0M
9.
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Genes (Basel) 2020 Dec; 11(12): 1467. Published online 2020 Dec 7. doi: 10.3390/genes11121467
PMCID:
PMC7762334
AbstractArticlePDF–3.1M
10.
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss
Shin-ichiro Oka, Timothy F. Day, Shin-ya Nishio, Hideaki Moteki, Maiko Miyagawa, Shinya Morita, Shuji Izumi, Tetsuo Ikezono, Satoko Abe, Jun Nakayama, Misako Hyogo, Nobuhiko Okamoto, Natsumi Uehara, Chie Oshikawa, Shin-ichiro Kitajiri, Shin-ichi Usami
Genes (Basel) 2020 Mar; 11(3): 273. Published online 2020 Mar 4. doi: 10.3390/genes11030273
PMCID:
PMC7140843
AbstractArticlePDF–1.8M
11.
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
Ju Sun Song, Amel Bahloul, Christine Petit, Sang Jin Kim, Il Joon Moon, Jinhyuk Lee, Change-Seok Ki
Ann Lab Med. 2020 May; 40(3): 224–231. Published online 2019 Dec 18. doi: 10.3343/alm.2020.40.3.224
PMCID:
PMC6933062
AbstractArticlePDF–876K
12.
Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant, Daniela Gasperikova
BMC Med Genet. 2019; 20: 84. Published online 2019 May 17. doi: 10.1186/s12881-019-0806-y
PMCID:
PMC6525401
AbstractArticlePDF–1.1M
13.
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family
Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu
BMC Med Genet. 2019; 20: 43. Published online 2019 Mar 20. doi: 10.1186/s12881-019-0781-3
PMCID:
PMC6425609
AbstractArticlePDF–2.2M
14.
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
Jian Wang, Tingting Yu, Zhigang Wang, Satoshi Ohte, Ru-en Yao, Zhaojing Zheng, Juan Geng, Haiqing Cai, Yihua Ge, Yuchan Li, Yunlan Xu, Qinghua Zhang, James F Gusella, Qihua Fu, Steven Pregizer, Vicki Rosen, Yiping Shen
J Bone Miner Res. Author manuscript; available in PMC 2017 Jan 26.
Published in final edited form as: J Bone Miner Res. 2016 Apr; 31(4): 882–889. Published online 2015 Dec 28. doi: 10.1002/jbmr.2761
PMCID:
PMC5268166
AbstractArticlePDF–762K
15.
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis
Naoko Sakuma, Hideaki Moteki, Masahiro Takahashi, Shin-ya Nishio, Yasuhiro Arai, Yukiko Yamashita, Nobuhiko Oridate, Shin-ichi Usami
J Hum Genet. 2016 Mar; 61(3): 253–261. Published online 2016 Jan 14. doi: 10.1038/jhg.2015.143
PMCID:
PMC4819760
AbstractArticlePDF–482K
16.
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
AbstractArticlePDF–656K
17.
The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation
Chong-Kun Cheon, Gu-Hwan Kim, Han-Wook Yoo
Yonsei Med J. 2015 Jan 1; 56(1): 300–303. Published online 2014 Dec 10. doi: 10.3349/ymj.2015.56.1.300
PMCID:
PMC4276771
AbstractArticlePDF–1.9M
18.
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
Simone Rost, Elisa Bach, Cordula Neuner, Indrajit Nanda, Sandra Dysek, Reginald E Bittner, Alexander Keller, Oliver Bartsch, Robert Mlynski, Thomas Haaf, Clemens R Müller, Erdmute Kunstmann
Eur J Hum Genet. 2014 Feb; 22(2): 208–215. Published online 2013 May 29. doi: 10.1038/ejhg.2013.108
PMCID:
PMC3895628
AbstractArticlePDF–2.8M
19.
Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami
PLoS One. 2013; 8(5): e63231. Published online 2013 May 23. doi: 10.1371/journal.pone.0063231
PMCID:
PMC3662675
AbstractArticlePDF–925K
20.
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy
Juliane Winkelmann, Ling Lin, Barbara Schormair, Birgitte R. Kornum, Juliette Faraco, Giuseppe Plazzi, Atle Melberg, Ferdinando Cornelio, Alexander E. Urban, Fabio Pizza, Francesca Poli, Fabian Grubert, Thomas Wieland, Elisabeth Graf, Joachim Hallmayer, Tim M. Strom, Emmanuel Mignot
Hum Mol Genet. 2012 May 15; 21(10): 2205–2210. Published online 2012 Feb 9. doi: 10.1093/hmg/dds035
PMCID:
PMC3465691
AbstractArticlePDF–339K

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