PMC Articles for MedGen (Select 868363) - PMC

Margit Schraders, Laura Ruiz-Palmero, Ersan Kalay, Jaap Oostrik, Francisco J. del Castillo, Orhan Sezgin, Andy J. Beynon, Tim M. Strom, Ronald J.E. Pennings, Celia Zazo Seco, Anne M.M. Oonk, Henricus P.M. Kunst, María Domínguez-Ruiz, Ana M. García-Arumi, Miguel del Campo, Manuela Villamar, Lies H. Hoefsloot, Felipe Moreno, Ronald J.C. Admiraal, Ignacio del Castillo, Hannie Kremer

Am J Hum Genet. 2012 Nov 2; 91(5): 883–889. doi: 10.1016/j.ajhg.2012.09.012

PMCID:: PMC3487128

Abstract Article PDF–652K

Select item 98250254.

Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations

Xingang Zhang, Zhaoxin Ma, Jishan Zheng, Huiqing Xu, Jiewen Pan, Lanqiu Lv

Med Sci Monit. 2023; 29: e938165-1–e938165-12. Prepublished online 2022 Dec 9. Published online 2023 Jan 3. doi: 10.12659/MSM.938165

PMCID:: PMC9825025

Abstract Article PDF–1.1M

Select item 77062035.

Audiological and otologic manifestations of glutaric aciduria type I

Yen-Chi Chen, Chii-Yuan Huang, Yen-Ting Lee, Chia-Hung Wu, Sheng-Kai Chang, Hsiu-Lien Cheng, Po-Hsiung Chang, Dau-Ming Niu, Yen-Fu Cheng

Orphanet J Rare Dis. 2020; 15: 337. Published online 2020 Dec 1. doi: 10.1186/s13023-020-01571-w

PMCID:: PMC7706203

Abstract Article PDF–1.0M

Select item 69260406.

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Paul Avan, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit, Elisabeth Verpy

Proc Natl Acad Sci U S A. 2019 Dec 17; 116(51): 25948–25957. Published online 2019 Nov 27. doi: 10.1073/pnas.1902781116

PMCID:: PMC6926040

Abstract Article PDF–3.3M

Select item 61395637.

Role of a conserved glutamine in the function of voltage-gated Ca²⁺ channels revealed by a mutation in human CACNA1D

Edgar Garza-Lopez, Josue A. Lopez, Jussara Hagen, Ruth Sheffer, Vardiella Meiner, Amy Lee

J Biol Chem. 2018 Sep 14; 293(37): 14444–14454. Published online 2018 Jul 27. doi: 10.1074/jbc.RA118.003681

PMCID:: PMC6139563

Abstract Article PDF–1.8M

Select item 52836038.

Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants

Nicola Strenzke, Rituparna Chakrabarti, Hanan Al‐Moyed, Alexandra Müller, Gerhard Hoch, Tina Pangrsic, Gulnara Yamanbaeva, Christof Lenz, Kuan‐Ting Pan, Elisabeth Auge, Ruth Geiss‐Friedlander, Henning Urlaub, Nils Brose, Carolin Wichmann, Ellen Reisinger

EMBO J. 2016 Dec 1; 35(23): 2519–2535. Published online 2016 Oct 11. doi: 10.15252/embj.201694564

PMCID:: PMC5283603

Abstract Article PDF–2.8M

Select item 35964159.

Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media

Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E. Vancollie, Ozama Ismail, Rebecca E. McIntyre, Stephen H. Tsang, Vinit B. Mahajan, Gordon Dougan, David J. Adams, Jacqueline K. White, Karen P. Steel

PLoS One. 2013; 8(3): e58156. Published online 2013 Mar 13. doi: 10.1371/journal.pone.0058156

Correction in:: PLoS One. 2013; 8(6): 10.1371/annotation/fadb7426-df05-4ec5-a0ba-21981295b0eb.

PMCID:: PMC3596415

Abstract Article PDF–5.4M

Select item 326474110.

Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment

Lauren J Francey, Laura K Conlin, Hanna E Kadesch, Dinah Clark, Donna Berrodin, Yi Sun, Joe Glessner, Hakon Hakonarson, Chaim Jalas, Chaim Landau, Nancy B Spinner, Margaret Kenna, Michal Sagi, Heidi L Rehm, Ian D Krantz

Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 298–308. Published online 2011 Dec 6. doi: 10.1002/ajmg.a.34391

PMCID:: PMC3264741

Abstract Article PDF–1.8M

Select item 1066894411.

Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

María Domínguez-Ruiz, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A. Moreno-Pelayo, Ana B. Elgoyhen, Francisco J. del Castillo, Viviana Dalamón, Ignacio del Castillo

Biomedicines. 2023 Nov; 11(11): 2943. Published online 2023 Oct 31. doi: 10.3390/biomedicines11112943

PMCID:: PMC10668944

Abstract Article PDF–1.2M

Select item 1048613112.

Factors associated with balance impairments in the community-dwelling elderly in urban China

Qinghua Xia, Peng Zhou, Xia Li, Xiaofen Li, Lei Zhang, Xuefei Fan, Zhoulan Zhao, Yu Jiang, Jianhong Zhu, Hongmei Wu, Mengdi Zhang

BMC Geriatr. 2023; 23: 545. Published online 2023 Sep 7. doi: 10.1186/s12877-023-04219-z

PMCID:: PMC10486131

Abstract Article PDF–1.9M

Select item 1018482113.

Evaluation of the Association Between Hearing Aids and Reduced Cognitive Decline in Older Adults with Hearing Impairment

Tetsuya Ganbo, Jun Sashida, Miwako Saito

Otol Neurotol. 2023 Jun; 44(5): 425–431. Published online 2023 May 1. doi: 10.1097/MAO.0000000000003885

PMCID:: PMC10184821

Abstract Article PDF–883K

Select item 1003951914.

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda

Orphanet J Rare Dis. 2023; 18: 68. Published online 2023 Mar 24. doi: 10.1186/s13023-023-02670-0

PMCID:: PMC10039519

Abstract Article PDF–3.7M

Select item 944224615.

Chronic Suppurative Otitis Media in urban private school children of Nepal

Prakash Adhikari, Sambudutta Joshi, Dipal Baral, Binit Kharel

Braz J Otorhinolaryngol. 2009 Sep-Oct; 75(5): 669–672. Published online 2015 Oct 18. doi: 10.1016/S1808-8694(15)30516-4

PMCID:: PMC9442246

Abstract Article PDF–124K

Select item 874407916.

Speech recognition with a hearing-aid processing scheme combining beamforming with mask-informed speech enhancement

Tim Green, Gaston Hilkhuysen, Mark Huckvale, Stuart Rosen, Mike Brookes, Alastair Moore, Patrick Naylor, Leo Lightburn, Wei Xue

Trends Hear. 2022 Jan-Dec; 26: 23312165211068629. Published online 2022 Jan 5. doi: 10.1177/23312165211068629

PMCID:: PMC8744079

Abstract Article PDF–1.5M

Select item 853805017.

Validation of a Personalized Hearing Screening Mobile Health Application for Persons with Moderate Hearing Impairment

Lok-Yee Joyce Li, Shin-Yi Wang, Jinn-Moon Yang, Chih-Jou Chen, Cheng-Yu Tsai, Lucas Yee-Yan Wu, Te-Fang Wu, Cheng-Jung Wu

J Pers Med. 2021 Oct; 11(10): 1035. Published online 2021 Oct 16. doi: 10.3390/jpm11101035

PMCID:: PMC8538050

Abstract Article PDF–1.0M

Select item 849165318.

Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis

Shuang Han, Dejun Zhang, Yingyuan Guo, Zeming Fu, Guofang Guan

Front Genet. 2021; 12: 707845. Published online 2021 Sep 21. doi: 10.3389/fgene.2021.707845

PMCID:: PMC8491653

Abstract Article PDF–3.4M

Select item 823370019.

Association of Age-Related Hearing Impairment With Physical Functioning Among Community-Dwelling Older Adults in the US

Pablo Martinez-Amezcua, Danielle Powell, Pei-Lun Kuo, Nicholas S. Reed, Kevin J. Sullivan, Priya Palta, Moyses Szklo, Richey Sharrett, Jennifer A. Schrack, Frank R. Lin, Jennifer A. Deal

JAMA Netw Open. 2021 Jun; 4(6): e2113742. Published online 2021 Jun 25. doi: 10.1001/jamanetworkopen.2021.13742

PMCID:: PMC8233700

Abstract Article

Select item 795304920.

Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation

Hongyang Wang, Yun Gao, Jing Guan, Lan Lan, Ju Yang, Wenping Xiong, Cui Zhao, Linyi Xie, Lan Yu, Dayong Wang, Qiuju Wang

Front Cell Dev Biol. 2021; 9: 647240. Published online 2021 Feb 26. doi: 10.3389/fcell.2021.647240

PMCID:: PMC7953049

Abstract Article PDF–2.3M

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