PMC Articles for MedGen (Select 321902) - PMC

Select item 37295591.

Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment

Zhengyue Li, Yilian Guo, Yu Lu, Jianzhong Li, Zhanguo Jin, Hongbo Li, Yanping Lu, Pu Dai, Dongyi Han, Jing Cheng, Huijun Yuan

PLoS One. 2013; 8(7): e70134. Published online 2013 Jul 31. doi: 10.1371/journal.pone.0070134

PMCID:: PMC3729559

Article PDF–522K

Select item 33266652.

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

Article PDF–1.8M

Select item 25384173.

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Rutger F. Plantinga, Cor W.R.J. Cremers, Patrick L.M. Huygen, Henricus P.M. Kunst, Arjan J. Bosman

J Assoc Res Otolaryngol. 2007 Mar; 8(1): 1–7. Published online 2006 Nov 30. doi: 10.1007/s10162-006-0060-9

PMCID:: PMC2538417

Article PDF–311K

Select item 25045774.

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Rutger F. Plantinga, Arjan P.M. de Brouwer, Patrick L.M. Huygen, Henricus P.M. Kunst, Hannie Kremer, Cor W.R.J. Cremers

J Assoc Res Otolaryngol. 2006 Jun; 7(2): 173–181. Published online 2006 Apr 25. doi: 10.1007/s10162-006-0033-z

PMCID:: PMC2504577

Article PDF–364K

Select item 17124405.

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 68264436.

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

Rika Yasukawa, Hideaki Moteki, Shin-ya Nishio, Kotaro Ishikawa, Satoko Abe, Yohei Honkura, Misako Hyogo, Ryota Mihashi, Tetsuo Ikezono, Tomoko Shintani, Noriko Ogasawara, Kyoko Shirai, Hiroshi Yoshihashi, Takashi Ishino, Koshi Otsuki, Tsukasa Ito, Kazuma Sugahara, Shin-ichi Usami

Genes (Basel) 2019 Oct; 10(10): 744. Published online 2019 Sep 24. doi: 10.3390/genes10100744

PMCID:: PMC6826443

Article PDF–3.2M

Select item 56133827.

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa, Tatsuo Matsunaga

Orphanet J Rare Dis. 2017; 12: 157. Published online 2017 Sep 25. doi: 10.1186/s13023-017-0708-z

PMCID:: PMC5613382

Article PDF–2.2M

Select item 43601858.

Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin

Georgina A. Stooke-Vaughan, Nikolaus D. Obholzer, Sarah Baxendale, Sean G. Megason, Tanya T. Whitfield

Development. 2015 Mar 15; 142(6): 1137–1145. doi: 10.1242/dev.116632

PMCID:: PMC4360185

Article

Select item 39992589.

Anne M.M. Oonk, Joop M. Leijendeckers, Patrick L.M. Huygen, Margit Schraders, Miguel del Campo, Ignacio del Castillo, Mustafa Tekin, Ilse Feenstra, Andy J. Beynon, Henricus P.M. Kunst, Ad F.M. Snik, Hannie Kremer, Ronald J.C. Admiraal, Ronald J.E. Pennings

Ear Hear. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Ear Hear. 2014 May-Jun; 35(3): e84–e91. doi: 10.1097/AUD.0000000000000008

PMCID:: PMC3999258

Article PDF–869K

Select item 250460510.

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

Miguel Ángel Moreno-Pelayo, Richard J. Goodyear, Angeles Mencía, Silvia Modamio-Høybjør, P. Kevin Legan, Leticia Olavarrieta, Felipe Moreno, Guy P. Richardson

J Assoc Res Otolaryngol. 2008 Jun; 9(2): 202–214. Published online 2008 May 2. doi: 10.1007/s10162-008-0116-0

PMCID:: PMC2504605

Article PDF–647K

Select item 137740011.

Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.

J Balciuniene, N Dahl, E Borg, E Samuelsson, M J Koisti, U Pettersson, E E Jazin

Am J Hum Genet. 1998 Sep; 63(3): 786–793. doi: 10.1086/302012

PMCID:: PMC1377400

Abstract

Select item 128821112.

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 1029618613.

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci

Biomedicines. 2023 Jun; 11(6): 1616. Published online 2023 Jun 1. doi: 10.3390/biomedicines11061616

PMCID:: PMC10296186

Article PDF–523K

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