PMC Articles for MedGen (Select 854638) - PMC

Select item 90350031.

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Justin A. Pater, Cindy Penney, Darren D. O’Rielly, Anne Griffin, Lara Kamal, Zippora Brownstein, Barbara Vona, Chana Vinkler, Mordechai Shohat, Ortal Barel, Curtis R. French, Sushma Singh, Salem Werdyani, Taylor Burt, Nelly Abdelfatah, Jim Houston, Lance P. Doucette, Jessica Squires, Fabian Glaser, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Geoffrey Woodland, Touati Benoukraf, Alexia Hawkey-Noble, Karen B. Avraham, Susan G. Stanton, Terry-Lynn Young

Hum Genet. 2022; 141(3-4): 431–444. Published online 2022 Mar 12. doi: 10.1007/s00439-022-02444-x

PMCID:: PMC9035003

Abstract Article PDF–5.8M

Select item 90070942.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Abstract Article PDF–1.3M

Select item 71408433.

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

Abstract Article PDF–1.8M

Select item 60202844.

Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient

Yan-ping Xu, Li-ping Shi, Jiajun Zhu

BMC Pediatr. 2018; 18: 203. Published online 2018 Jun 26. doi: 10.1186/s12887-018-1181-0

PMCID:: PMC6020284

Abstract Article PDF–1023K

Select item 54899195.

Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

Jie Sun, Ziqi Hao, Hunjin Luo, Chufeng He, Lingyun Mei, Yalan Liu, Xueping Wang, Zhijie Niu, Hongsheng Chen, Jia-Da Li, Yong Feng

J Hum Genet. 2017 Jul; 62(7): 703–709. Published online 2017 Mar 30. doi: 10.1038/jhg.2017.30

PMCID:: PMC5489919

Abstract Article PDF–2.3M

Select item 51597736.

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness

John Patton, Carmen Brewer, Wade Chien, Jennifer J Johnston, Andrew J Griffith, Leslie G Biesecker

Eur J Hum Genet. 2017 Jan; 25(1): 147–149. Published online 2016 Oct 19. doi: 10.1038/ejhg.2016.140

PMCID:: PMC5159773

Abstract Article PDF–100K

Select item 47360967.

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

Yongyi Yuan, Xue Gao, Bangqing Huang, Jingqiao Lu, Guojian Wang, Xi Lin, Yan Qu, Pu Dai

BMC Genet. 2016; 17: 33. Published online 2016 Feb 1. doi: 10.1186/s12863-016-0333-1

PMCID:: PMC4736096

Abstract Article PDF–1.9M

Select item 43347668.

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, Martin Ptok, Morag A Lewis, Holger Thiele, Susanne Morlot, Markus M Hess, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P Steel, Marlies Knipper, Hanno Jörn Bolz

Orphanet J Rare Dis. 2015; 10: 15. Published online 2015 Feb 10. doi: 10.1186/s13023-015-0238-5

PMCID:: PMC4334766

Abstract Article PDF–1.9M

Select item 33266659.

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

Michael S. Hildebrand, Matías Morín, Nicole C. Meyer, Fernando Mayo, Silvia Modamio-Hoybjor, Angeles Mencía, Leticia Olavarrieta, Carmelo Morales-Angulo, Carla J. Nishimura, Heather Workman, Adam P. DeLuca, Ignacio del Castillo, Kyle R. Taylor, Bruce Tompkins, Corey W. Goodman, Isabelle Schrauwen, Maarten Van Wesemael, K. Lachlan, A. Eliot Shearer, Terry A. Braun, Patrick L.M. Huygen, Hannie Kremer, Guy Van Camp, Felipe Moreno, Thomas L. Casavant, Richard J.H. Smith, Miguel A. Moreno-Pelayo

Hum Mutat. Author manuscript; available in PMC 2012 Apr 16.

Published in final edited form as: Hum Mutat. 2011 Jul; 32(7): 825–834. Published online 2011 Jun 7. doi: 10.1002/humu.21512

PMCID:: PMC3326665

Abstract Article PDF–1.8M

Select item 168494910.

Low frequency hereditary deafness in man with childhood onset.

P E León, J A Bonilla, J R Sánchez, R Vanegas, M Villalobos, L Torres, F León, A L Howell, J A Rodríguez

Am J Hum Genet. 1981 Mar; 33(2): 209–214.

PMCID:: PMC1684949

Summary Page Browse PDF–522K

Select item 105063911.

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.

J Ignatius, S Knuutila, S W Scherer, B Trask, J Kere

J Med Genet. 1996 Jun; 33(6): 507–510. doi: 10.1136/jmg.33.6.507

PMCID:: PMC1050639

Summary Page Browse PDF–1.1M

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