PMC Articles for MedGen (Select 344221) - PMC

Select item 12349221.

DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24

Charles C. Greene, Pamella M. McMillan, Susan E. Barker, Purnima Kurnool, Margaret I. Lomax, Margit Burmeister, Marci M. Lesperance

Am J Hum Genet. 2001 Jan; 68(1): 254–260. Published online 2000 Dec 11. doi: 10.1086/316925

PMCID:: PMC1234922

Article PDF–235K

Select item 47226162.

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

Nari Ryu, Borum Sagong, Hong-Joon Park, Min-A Kim, Kyu-Yup Lee, Jae Young Choi, Un-Kyung Kim

BMC Med Genet. 2016; 17: 6. Published online 2016 Jan 22. doi: 10.1186/s12881-016-0269-3

PMCID:: PMC4722616

Article PDF–1.7M

Select item 24950733.

Impairment of SLC17A8 Encoding Vesicular Glutamate Transporter-3, VGLUT3, Underlies Nonsyndromic Deafness DFNA25 and Inner Hair Cell Dysfunction in Null Mice

Jérôme Ruel, Sarah Emery, Régis Nouvian, Tiphaine Bersot, Bénédicte Amilhon, Jana M. Van Rybroek, Guy Rebillard, Marc Lenoir, Michel Eybalin, Benjamin Delprat, Theru A. Sivakumaran, Bruno Giros, Salah El Mestikawy, Tobias Moser, Richard J.H. Smith, Marci M. Lesperance, Jean-Luc Puel

Am J Hum Genet. 2008 Aug 8; 83(2): 278–292. Published online 2008 Aug 1. doi: 10.1016/j.ajhg.2008.07.008

PMCID:: PMC2495073

Article PDF–1.5M

Select item 17352154.

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 65965875.

Characterization of a Human Point Mutation of VGLUT3 (p.A211V) in the Rodent Brain Suggests a Nonuniform Distribution of the Transporter in Synaptic Vesicles

Lauriane Ramet, Johannes Zimmermann, Tiphaine Bersot, Odile Poirel, Stéphanie De Gois, Katlin Silm, Diana Yae Sakae, Nina Mansouri-Guilani, Marie-Josée Bourque, Louis-Eric Trudeau, Nicolas Pietrancosta, Stéphanie Daumas, Véronique Bernard, Christian Rosenmund, Salah El Mestikawy

J Neurosci. 2017 Apr 12; 37(15): 4181–4199. doi: 10.1523/JNEUROSCI.0282-16.2017

PMCID:: PMC6596587

Article PDF–5.2M

Select item 90070946.

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

Article PDF–1.3M

Select item 84876807.

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss

Reza Azizi Malamiri, Javad Mohammadi Asl, Farideh Ghanbari

Iran Biomed J. 2021 Sep; 25(5): 368–373. Published online 2021 Jul 13. doi: 10.52547/ibj.25.5.368

PMCID:: PMC8487680

Article PDF–878K

Select item 59167548.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

Meirav Sokolov, Zippora Brownstein, Moshe Frydman, Karen B. Avraham

J Basic Clin Physiol Pharmacol. Author manuscript; available in PMC 2018 Apr 25.

Published in final edited form as: J Basic Clin Physiol Pharmacol. 2014 Sep; 25(3): 289–292. doi: 10.1515/jbcpp-2014-0053

PMCID:: PMC5916754

Article PDF–173K

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