PMC Articles for MedGen (Select 1631180) - PMC

Select item 100482571.

Yacouba Dia, Birame Loum, Yaay Joor Koddu Biigé Dieng, Jean Pascal Demba Diop, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Abdoul Aziz Touré, Fallou Niang, Pierre Diaga Sarr, Cheikh Ahmed Tidiane Ly, Andrea Regina Gnilane Sène, Carmen De Kock, Rhiyana Bassier, Kalinka Popel, Rokhaya Ndiaye Diallo, Ambroise Wonkam, Bay Karim Diallo

Genes (Basel) 2023 Mar; 14(3): 562. Published online 2023 Feb 23. doi: 10.3390/genes14030562

PMCID:: PMC10048257

Article PDF–3.0M

Select item 97121712.

Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity

Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu, Foundation Fighting Blindness Consortium Investigator Group

Am J Ophthalmol. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Am J Ophthalmol. 2022 Dec; 244: 98–116. Published online 2022 Aug 22. doi: 10.1016/j.ajo.2022.08.013

PMCID:: PMC9712171

Article PDF–1.1M

Select item 87446333.

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1

Giuseppina Salzano, Luciana Rigoli, Mariella Valenzise, Roberto Chimenz, Stefano Passanisi, Fortunato Lombardo

Int J Environ Res Public Health. 2022 Jan; 19(1): 520. Published online 2022 Jan 4. doi: 10.3390/ijerph19010520

PMCID:: PMC8744633

Article PDF–314K

Select item 71408434.

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

Article PDF–1.8M

Select item 71106545.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami

BMC Med Genet. 2020; 21: 68. Published online 2020 Mar 31. doi: 10.1186/s12881-020-01002-4

PMCID:: PMC7110654

Article PDF–727K

Select item 68264706.

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Karuna Maekawa, Shin-ya Nishio, Satoko Abe, Shin-ichi Goto, Yohei Honkura, Satoshi Iwasaki, Yukihiko Kanda, Yumiko Kobayashi, Shin-ichiro Oka, Mayuri Okami, Chie Oshikawa, Naoko Sakuma, Hajime Sano, Masayuki Shirakura, Natsumi Uehara, Shin-ichi Usami

Genes (Basel) 2019 Oct; 10(10): 735. Published online 2019 Sep 23. doi: 10.3390/genes10100735

PMCID:: PMC6826470

Article PDF–6.3M

Select item 66251317.

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

Article PDF–734K

Select item 64448778.

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee, Jinsei Jung

BMC Med Genet. 2019; 20: 57. Published online 2019 Apr 1. doi: 10.1186/s12881-019-0775-1

PMCID:: PMC6444877

Article PDF–1.4M

Select item 60054819.

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M. Millán, Carmen Ayuso

PLoS One. 2018; 13(6): e0199048. Published online 2018 Jun 18. doi: 10.1371/journal.pone.0199048

PMCID:: PMC6005481

Article PDF–2.7M

Select item 474128010.

PDZD7 and hearing loss: more than just a modifier

Kevin T Booth, Hela Azaiez, Kimia Kahrizi, Allen C Simpson, William TA Tollefson, Christina M Sloan, Nicole C Meyer, Mojgan Babanejad, Fariba Ardalani, Sanaz Arzhangi, Michael J Schnieders, Hossein Najmabadi, Richard JH Smith

Am J Med Genet A. Author manuscript; available in PMC 2016 Feb 4.

Published in final edited form as: Am J Med Genet A. 2015 Dec; 167(12): 2957–2965. Published online 2015 Sep 29. doi: 10.1002/ajmg.a.37274

PMCID:: PMC4741280

Article PDF–968K

Select item 463516911.

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

Mirei Taniguchi, Hirotaka Matsuo, Seiko Shimizu, Akiyoshi Nakayama, Koji Suzuki, Nobuyuki Hamajima, Nariyoshi Shinomiya, Shinya Nishio, Shinji Kosugi, Shin-ichi Usami, Juichi Ito, Shin-ichiro Kitajiri

J Hum Genet. 2015 Oct; 60(10): 613–617. Published online 2015 Jul 16. doi: 10.1038/jhg.2015.82

PMCID:: PMC4635169

Article PDF–320K

Select item 446475512.

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population

So Young Kim, Ah Reum Kim, Kyu Hee Han, Min Young Kim, Eun-Hee Jeon, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi

PLoS One. 2015; 10(6): e0125416. Published online 2015 Jun 10. doi: 10.1371/journal.pone.0125416

PMCID:: PMC4464755

Article PDF–909K

Select item 368002613.

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age

Aihua Yin, Chang Liu, Yan Zhang, Jing Wu, Mingqin Mai, Hongke Ding, Jiexia Yang, Xiaozhuang Zhang

BMC Med Genet. 2013; 14: 57. Published online 2013 May 29. doi: 10.1186/1471-2350-14-57

PMCID:: PMC3680026

Article PDF–159K

Select item 359610514.

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

Thomas J. Jaworek, Rashid Bhatti, Naureen Latief, Shaheen N. Khan, Saima Riazuddin, Zubair M Ahmed

J Hum Genet. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: J Hum Genet. 2012 Oct; 57(10): 633–637. Published online 2012 Jun 21. doi: 10.1038/jhg.2012.79

PMCID:: PMC3596105

Article PDF–543K

Select item 334221115.

Spectrum of Genetic Changes in Patients with Non-Syndromic Hearing Impairment and Extremely High Carrier Frequency of 35delG GJB2 Mutation in Belarus

Nina Danilenko, Elena Merkulava, Marina Siniauskaya, Olga Olejnik, Anastasia Levaya-Smaliak, Alena Kushniarevich, Andrey Shymkevich, Oleg Davydenko

PLoS One. 2012; 7(5): e36354. Published online 2012 May 2. doi: 10.1371/journal.pone.0036354

PMCID:: PMC3342211

Article PDF–966K

Select item 313638316.

Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3

Ghazanfar Ali, Kwanghyuk Lee, Paula B. Andrade, Sulman Basit, Regie Lyn P. Santos-Cortez, Leon Chen, Musharraf Jelani, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal

Hum Hered. 2011 Jul; 71(2): 106–112. Published online 2011 Jul 6. doi: 10.1159/000320154

PMCID:: PMC3136383

Article PDF–131K

Select item 307040517.

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

Terri L. McGee, Babak Jian Seyedahmadi, Meredith O. Sweeney, Thaddeus P. Dryja, Eliot L. Berson

J Med Genet. Author manuscript; available in PMC 2011 Jul 1.

Published in final edited form as: J Med Genet. 2010 Jul; 47(7): 499–506. Published online 2010 May 27. doi: 10.1136/jmg.2009.075143

PMCID:: PMC3070405

Article PDF–431K

Select item 292013818.

DFNB44, a Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus, Maps to Chromosome 7p14.1-q11.22

Muhammad Ansar, Maria H. Chahrour, Mohammad Amin ud Din, Muhammad Arshad, Sayedul Haque, Thanh L. Pham, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Hum Hered. Author manuscript; available in PMC 2010 Aug 11.

Published in final edited form as: Hum Hered. 2004; 57(4): 195–199. doi: 10.1159/000081446

PMCID:: PMC2920138

Article PDF–617K

Select item 180127319.

The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population.

M A Maw, D R Allen-Powell, R J Goodey, I A Stewart, D J Nancarrow, N K Hayward, R J Gardner

Am J Hum Genet. 1995 Sep; 57(3): 629–635.

PMCID:: PMC1801273

Summary Page Browse PDF–1.1M

Select item 128818720.

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

M. D. Weston, J. D. Eudy, S. Fujita, S.-F. Yao, S. Usami, C. Cremers, J. Greenburg, R. Ramesar, A. Martini, C. Moller, R. J. Smith, J. Sumegi, William J. Kimberling

Am J Hum Genet. 2000 Apr; 66(4): 1199–1210. Published online 2000 Mar 22. doi: 10.1086/302855

Correction in:: Am J Hum Genet, volume 66 on page 2020

PMCID:: PMC1288187

Article PDF–944K

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