PMC Articles for MedGen (Select 332110) - PMC

Select item 27165581.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

Zubair M. Ahmed, Saima Riazuddin, Sandar Aye, Rana A. Ali, Hanka Venselaar, Saima Anwar, Polina P. Belyantseva, Muhammad Qasim, Sheikh Riazuddin, Thomas B. Friedman

Hum Genet. Author manuscript; available in PMC 2009 Jul 28.

Published in final edited form as: Hum Genet. 2008 Oct; 124(3): 215–223. Published online 2008 Aug 22. doi: 10.1007/s00439-008-0543-3

PMCID:: PMC2716558

Abstract Article PDF–1.0M

Select item 66739072.

The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15

Zubair M. Ahmed, Richard Goodyear, Saima Riazuddin, Ayala Lagziel, P. Kevin Legan, Martine Behra, Shawn M. Burgess, Kathryn S. Lilley, Edward R. Wilcox, Sheikh Riazuddin, Andrew J. Griffith, Gregory I. Frolenkov, Inna A. Belyantseva, Guy P. Richardson, Thomas B. Friedman

J Neurosci. 2006 Jun 28; 26(26): 7022–7034. doi: 10.1523/JNEUROSCI.1163-06.2006

PMCID:: PMC6673907

Abstract Article PDF–1.0M

Select item 33984933.

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

Teresa Jaijo, Aki Oshima, Elena Aller, Carol Carney, Shin-ichi Usami, José M. Millán, William J. Kimberling

Mol Vis. 2012; 18: 1719–1726. Published online 2012 Jun 23.

PMCID:: PMC3398493

Abstract Article PDF–480K

Select item 29862564.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Lance Doucette, Nancy D Merner, Sandra Cooke, Elizabeth Ives, Dante Galutira, Vanessa Walsh, Tom Walsh, Linda MacLaren, Tracey Cater, Bridget Fernandez, Jane S Green, Edward R Wilcox, Larry Shotland, X C Li, Ming Lee, Mary-Claire King, Terry-Lynn Young

Eur J Hum Genet. 2009 May; 17(5): 554–564. Published online 2008 Dec 24. doi: 10.1038/ejhg.2008.231

Correction in:: Eur J Hum Genet. 2009 Oct; 17(10): 1363.

PMCID:: PMC2986256

Abstract Article PDF–582K

Select item 90070945.

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 89490166.

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients

Moza Alkowari, Meritxell Espino-Guarch, Sahar Daas, Doua Abdelrahman, Waseem Hasan, Navaneethakrishnan Krishnamoorthy, Abbirami Sathappan, Patrick Sheehan, Nicholas Van Panhuys, The Qatar Genome Program Research Consortium, Xavier Estivill

Int J Mol Sci. 2022 Mar; 23(6): 3369. Published online 2022 Mar 21. doi: 10.3390/ijms23063369

PMCID:: PMC8949016

Abstract Article PDF–36M

Select item 77675687.

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi

Mol Genet Genomic Med. 2020 Dec; 8(12): e1550. Published online 2020 Nov 18. doi: 10.1002/mgg3.1550

PMCID:: PMC7767568

Abstract Article PDF–1.9M

Select item 77644568.

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

Khushnooda Ramzan, Nouf S. Al-Numair, Sarah Al-Ageel, Lina Elbaik, Nadia Sakati, Selwa A. F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz

Genes (Basel) 2020 Dec; 11(12): 1474. Published online 2020 Dec 9. doi: 10.3390/genes11121474

PMCID:: PMC7764456

Abstract Article PDF–2.7M

Select item 69330629.

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

Abstract Article PDF–876K

Select item 675079310.

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China

Ying Lin, Feng Yu, Yuelong Jiao, Feng Zhou

J Int Adv Otol. 2019 Aug; 15(2): 247–252. Published online 2019 Jul 24. doi: 10.5152/iao.2019.6512

PMCID:: PMC6750793

Abstract Article PDF–2.4M

Select item 662513111.

Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran

Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar

Mol Genet Genomic Med. 2019 Jul; 7(7): e00780. Published online 2019 Jun 4. doi: 10.1002/mgg3.780

PMCID:: PMC6625131

Abstract Article PDF–734K

Select item 528105912.

Functional Characterization of a Novel Loss-of-Function Mutation of PRPS1 related to Early-Onset Progressive Nonsyndromic Hearing Loss in Koreans (DFNX1): Potential Implications on Future Therapeutic Intervention

So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Chung Lee, Jin Hee Han, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Rahul Mittal, Denise Yan, Xue Zhong Liu, Byung Yoon Choi

J Gene Med. Author manuscript; available in PMC 2017 Nov 1.

Published in final edited form as: J Gene Med. 2016 Nov; 18(11-12): 353–358. doi: 10.1002/jgm.2935

PMCID:: PMC5281059

Abstract Article PDF–356K

Select item 429791113.

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Celia Zazo Seco, Anne MM Oonk, María Domínguez-Ruiz, Jos MT Draaisma, Marta Gandía, Jaap Oostrik, Kornelia Neveling, Henricus PM Kunst, Lies H Hoefsloot, Ignacio del Castillo, Ronald JE Pennings, Hannie Kremer, Ronald JC Admiraal, Margit Schraders

Eur J Hum Genet. 2015 Feb; 23(2): 189–194. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.83

PMCID:: PMC4297911

Abstract Article PDF–1.3M

Select item 423482514.

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing

J Transl Med. 2014; 12: 311. Published online 2014 Nov 12. doi: 10.1186/s12967-014-0311-1

PMCID:: PMC4234825

Abstract Article PDF–1.4M

Select item 366421815.

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki

BMC Med Genet. 2013; 14: 56. Published online 2013 May 24. doi: 10.1186/1471-2350-14-56

PMCID:: PMC3664218

Abstract Article PDF–1.1M

Select item 315715216.

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice

Shehnaaz S.M. Manji, Kerry A. Miller, Louise H. Williams, Lotte Andreasen, Maria Siboe, Elizabeth Rose, Melanie Bahlo, Michael Kuiper, Hans-Henrik M. Dahl

Am J Pathol. 2011 Aug; 179(2): 903–914. doi: 10.1016/j.ajpath.2011.04.002

PMCID:: PMC3157152

Abstract Article PDF–4.7M

Select item 290910017.

Mapping of a Novel Autosomal Recessive Nonsyndromic Deafness Locus (DFNB46) to Chromosome 18p11.32-p11.31

Asif Mir, Muhammad Ansar, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Sayedul Haque, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Am J Med Genet A. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Am J Med Genet A. 2005 Feb 15; 133A(1): 23–26. doi: 10.1002/ajmg.a.30516

PMCID:: PMC2909100

Abstract Article PDF–546K

Select item 284785018.

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Nele Hilgert, Richard J.H. Smith, Guy Van Camp

Mutat Res. Author manuscript; available in PMC 2010 Mar 31.

Published in final edited form as: Mutat Res. 2009 Mar–Jun; 681(2-3): 189–196. Published online 2008 Aug 29. doi: 10.1016/j.mrrev.2008.08.002

PMCID:: PMC2847850

Abstract Article PDF–77K

Select item 138021119.

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness

Saima Riazuddin, Shaheen N. Khan, Zubair M. Ahmed, Manju Ghosh, Kyle Caution, Sabiha Nazli, Madhulika Kabra, Ahmad U. Zafar, Kevin Chen, Sadaf Naz, Anthony Antonellis, William J. Pavan, Eric D. Green, Edward R. Wilcox, Penelope L. Friedman, Robert J. Morell, Sheikh Riazuddin, Thomas B. Friedman

Am J Hum Genet. 2006 Jan; 78(1): 137–143. Published online 2005 Nov 21. doi: 10.1086/499164

PMCID:: PMC1380211

Abstract Article PDF–2.4M

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