PMC Articles for MedGen (Select 350361) - PMC

Select item 29175421.

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1 – 14q24.3 in large consanguineous kindred from Pakistan

Muhammad Ansar, Mohammad Amin ud Din, Muhammad Arshad, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Wasim Ahmad, Suzanne M Leal

Eur J Hum Genet. Author manuscript; available in PMC 2010 Aug 7.

Published in final edited form as: Eur J Hum Genet. 2003 Jan; 11(1): 77–80. doi: 10.1038/sj.ejhg.5200905

PMCID:: PMC2917542

Article PDF–635K

Select item 97783692.

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab

Genes (Basel) 2022 Dec; 13(12): 2192. Published online 2022 Nov 23. doi: 10.3390/genes13122192

PMCID:: PMC9778369

Article PDF–2.2M

Select item 95442053.

Elucidation of repeat motifs R1‐ and R2‐related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals

Rosemary Ida Kabahuma, Wolf‐Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue‐Zhong Liu

Mol Genet Genomic Med. 2022 Oct; 10(10): e2015. Published online 2022 Aug 27. doi: 10.1002/mgg3.2015

PMCID:: PMC9544205

Article PDF–1.3M

Select item 92457064.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin

Proc Natl Acad Sci U S A. 2022 Jun 28; 119(26): e2204084119. Published online 2022 Jun 21. doi: 10.1073/pnas.2204084119

PMCID:: PMC9245706

Article PDF–3.5M

Select item 86051505.

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran

Ehsan Abbaspour Rodbaneh, Mohammad Panahi, Bahareh Rahimi, Haleh Mokabber, Reza Farajollahi, Behzad Davarnia

J Clin Lab Anal. 2021 Nov; 35(11): e24024. Published online 2021 Sep 28. doi: 10.1002/jcla.24024

PMCID:: PMC8605150

Article PDF–530K

Select item 83619736.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bradley Bowles, Alejandro Ferrer, Carla J. Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup, Jennifer Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dario Cocciadiferro, Abigail Williams, Alex Cummings, Sara Loddo, Silvia Genovese, Chelsea Roadhouse, Kirsty McWalter, Undiagnosed Diseases Network, Ingrid M. Wentzensen, Chumei Li, Dusica Babovic‐Vuksanovic, Brendan C. Lanpher, Maria Lisa Dentici, Arun Ankala, J. Austin Hamm, Bruno Dallapiccola, Francesca Clementina Radio, Vandana Shashi, Benedicte Gérard, Agnes Bloch‐Zupan, Richard J. Smith, Eric W. Klee

Am J Med Genet A. 2021 Aug; 185(8): 2417–2433. Published online 2021 May 27. doi: 10.1002/ajmg.a.62347

PMCID:: PMC8361973

Article PDF–4.8M

Select item 82401037.

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi

J Adv Res. 2021 Jul; 31: 13–24. Published online 2021 Jan 12. doi: 10.1016/j.jare.2021.01.005

PMCID:: PMC8240103

Article PDF–1.7M

Select item 59416358.

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects

Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto, Regina Célia Mingroni-Netto

BMC Med Genet. 2018; 19: 73. Published online 2018 May 8. doi: 10.1186/s12881-018-0585-x

PMCID:: PMC5941635

Article PDF–981K

Select item 47334339.

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

Guney Bademci, Joseph Foster, II, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, F.Basak Cengiz, Ibis Menendez, Oscar Diaz Horta, Atefeh Shirkavand, Sirous Zeinali, Asli Subasioglu, Suna Tokgoz-Yilmaz, Fabiola Huesca Hernandez, Maria de la Luz Arenas Sordo, Juan Dominguez-Aburto, Edgar Hernandez-Zamora, Paola Montenegro, Rosario Paredes, Germania Moreta, Rodrigo Vinueza, Franklin Villegas, Santiago Mendoza Benitez, Shengru Guo, Nazim Bozan, Tulay Tos, Armagan Incesulu, Gonca Sennaroglu, Susan H. Blanton, Hatice Ozturkmen Akay, Muzeyyen Yildirim-Baylan, Mustafa Tekin

Genet Med. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Genet Med. 2016 Apr; 18(4): 364–371. Published online 2015 Jul 30. doi: 10.1038/gim.2015.89

Correction in:: Genet Med. 2016 Aug; 18(8): 859.

PMCID:: PMC4733433

Article PDF–924K

Select item 453410510.

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

So Young Kim, Ah Reum Kim, Nayoung K D Kim, Min Young Kim, Eun-Hee Jeon, Bong Jik Kim, Young Eun Han, Mun Young Chang, Woong-Yang Park, Byung Yoon Choi

J Transl Med. 2015; 13: 263. Published online 2015 Aug 13. doi: 10.1186/s12967-015-0624-8

PMCID:: PMC4534105

Article PDF–3.3M

Select item 445171811.

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Kunio Mizutari, Hideki Mutai, Kazunori Namba, Yuko Miyanaga, Atsuko Nakano, Yukiko Arimoto, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Kimitaka Kaga, Tatsuo Matsunaga

Orphanet J Rare Dis. 2015; 10: 60. Published online 2015 May 13. doi: 10.1186/s13023-015-0276-z

PMCID:: PMC4451718

Article PDF–879K

Select item 425094612.

Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population

Marjan Mojtabavi Naeini, Hamzeh Mesrian Tanha, Morteza Hashemzadeh Chaleshtori, Sadeq Vallian

Genet Test Mol Biomarkers. 2014 Dec 1; 18(12): 820–825. doi: 10.1089/gtmb.2014.0178

PMCID:: PMC4250946

Article PDF–230K

Select item 417650613.

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction

Hiroshi Nakanishi, Kiyoto Kurima, Yoshiyuki Kawashima, Andrew J. Griffith

Auris Nasus Larynx. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Auris Nasus Larynx. 2014 Oct; 41(5): 399–408. Published online 2014 Jun 2. doi: 10.1016/j.anl.2014.04.001

PMCID:: PMC4176506

Article PDF–211K

Select item 403642514.

Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

Hae-Mi Woo, Hong-Joon Park, Mi-Hyun Park, Bo-Young Kim, Joong-Wook Shin, Won Gi Yoo, Soo Kyung Koo

BMC Med Genet. 2014; 15: 46. Published online 2014 Apr 28. doi: 10.1186/1471-2350-15-46

PMCID:: PMC4036425

Article PDF–867K

Select item 372794115.

Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong, Soo Kyung Koo

BMC Med Genet. 2013; 14: 72. Published online 2013 Jul 17. doi: 10.1186/1471-2350-14-72

PMCID:: PMC3727941

Article PDF–1.3M

Select item 350378116.

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China

Yongyi Yuan, Weiwei Guo, Jie Tang, Guozheng Zhang, Guojian Wang, Mingyu Han, Xun Zhang, Shiming Yang, David Z. Z. He, Pu Dai

PLoS One. 2012; 7(11): e49984. Published online 2012 Nov 21. doi: 10.1371/journal.pone.0049984

PMCID:: PMC3503781

Article PDF–187K

Select item 312379517.

Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting

Neng Chen, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Iris Schrijver

J Mol Diagn. 2011 Jul; 13(4): 416–426. doi: 10.1016/j.jmoldx.2011.03.003

PMCID:: PMC3123795

Article PDF–1.2M

Select item 288525118.

Mutations in the MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

A. Eliot Shearer, Michael S. Hildebrand, Jennifer A. Webster, Kimia Kahrizi, Khadijeh Jalalvand, Sanaz Arzhanginy, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi

Laryngoscope. Author manuscript; available in PMC 2010 Jun 14.

Published in final edited form as: Laryngoscope. 2009 Apr; 119(4): 727–733. doi: 10.1002/lary.20116

PMCID:: PMC2885251

Article PDF–675K

Select item 284785019.

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

Article PDF–77K

Select item 137704620.

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

P M Kelley, D J Harris, B C Comer, J W Askew, T Fowler, S D Smith, W J Kimberling

Am J Hum Genet. 1998 Apr; 62(4): 792–799. doi: 10.1086/301807

PMCID:: PMC1377046

Summary PDF–492K

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