PMC Articles for MedGen (Select 324897) - 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

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Select item 22539582.

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

Rob W.J. Collin, Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik, Kwanghyuk Lee, Zubair M. Ahmed, Refik Çaylan, Yun Li, Henk A. Spierenburg, Erol Eyupoglu, Angelien Heister, Saima Riazuddin, Elif Bahat, Muhammad Ansar, Selcuk Arslan, Bernd Wollnik, Han G. Brunner, Cor W.R.J. Cremers, Ahmet Karaguzel, Wasim Ahmad, Frans P.M. Cremers, Gert Vriend, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Hannie Kremer

Am J Hum Genet. 2008 Jan 10; 82(1): 125–138. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.09.008

PMCID:: PMC2253958

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Select item 41127273.

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Megan L Weber, Hong-Yuan Hsin, Ersan Kalay, Dana Š Brožková, Takehiko Shimizu, Merve Bayram, Kathleen Deeley, Erika C Küchler, Jessalyn Forella, Timothy D Ruff, Vanessa M Trombetta, Regina C Sencak, Michael Hummel, Jessica Briseño-Ruiz, Shankar K Revu, José M Granjeiro, Leonardo S Antunes, Livia A Antunes, Fernanda V Abreu, Marcelo C Costa, Patricia N Tannure, Mine Koruyucu, Asli Patir, Fernando A Poletta, Juan C Mereb, Eduardo E Castilla, Iêda M Orioli, Mary L Marazita, Hongjiao Ouyang, Thottala Jayaraman, Figen Seymen, Alexandre R Vieira

BMC Med Genet. 2014; 15: 81. Published online 2014 Jul 15. doi: 10.1186/1471-2350-15-81

PMCID:: PMC4112727

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Select item 25646394.

A novel locus for autosomal dominant non‐syndromic deafness, DFNA53, maps to chromosome 14q11.2‐q12

D Yan, X Ke, S H Blanton, X M Ouyang, A Pandya, L L Du, W E Nance, X Z Liu

J Med Genet. 2006 Feb; 43(2): 170–174. doi: 10.1136/jmg.2005.034710

PMCID:: PMC2564639

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Select item 33355725.

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families

Kwanghyuk Lee, Saadullah Khan, Muhammad Ansar, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal

Genet Res Int. 2011; 2011: 368915. Published online 2011 Sep 25. doi: 10.4061/2011/368915

PMCID:: PMC3335572

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Select item 43316286.

The PDZ-Domain Protein Whirlin Facilitates Mechanosensory Signaling in Mammalian Proprioceptors

Joriene C. de Nooij, Christian M. Simon, Anna Simon, Staceyann Doobar, Karen P. Steel, Robert W. Banks, George Z. Mentis, Guy S. Bewick, Thomas M. Jessell

J Neurosci. 2015 Feb 18; 35(7): 3073–3084. doi: 10.1523/JNEUROSCI.3699-14.2015

PMCID:: PMC4331628

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Select item 90070947.

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

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Select item 88116758.

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

Anwar Madlool Al-janabi, Habeeb Shuhaib Ahmmed, Salih Mahdi Al-Khafaji

J Med Life. 2021 Nov-Dec; 14(6): 841–846. doi: 10.25122/jml-2021-0152

PMCID:: PMC8811675

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Select item 86051509.

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

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Select item 473195110.

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss

Jiongjiong Hu, Fei Liu, Wenjun Xia, Lili Hao, Jun Lan, Zhenghua Zhu, Jing Ye, Duan Ma, Zhaoxin Ma

J Transl Med. 2016; 14: 29. Published online 2016 Jan 28. doi: 10.1186/s12967-016-0780-5

PMCID:: PMC4731951

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Select item 426768511.

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Hela Azaiez, Kevin T. Booth, Fengxiao Bu, Patrick Huygen, Seiji Shibata, A. Eliot Shearer, Diana Kolbe, Nicole Meyer, E. Ann Black-Ziegelbein, Richard J.H. Smith

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 819–823. Published online 2014 May 6. doi: 10.1002/humu.22557

PMCID:: PMC4267685

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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

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Select item 275895013.

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy

Gheona Altarescu, Talia Eldar-Geva, Baruch Brooks, Edith Zylber-Haran, Irit Varshaver, Ehud J. Margalioth, Ephrat Levy-Lahad, Paul Renbaum

J Assist Reprod Genet. 2009 Jul; 26(7): 391–397. Published online 2009 Sep 2. doi: 10.1007/s10815-009-9335-5

PMCID:: PMC2758950

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