PMC Articles for MedGen (Select 343997) - PMC

Select item 104163181.

Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future

Anushree Acharya, Isabelle Schrauwen, Suzanne M. Leal

Hum Genet. Author manuscript; available in PMC 2023 Aug 11.

Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 413–430. Published online 2021 Jul 22. doi: 10.1007/s00439-021-02309-9

PMCID:: PMC10416318

Article PDF–963K

Select item 64781752.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Guney Bademci, Clemer Abad, Armagan Incesulu, Abolfazl Rad, Ozgul Alper, Susanne M. Kolb, Filiz B. Cengiz, Oscar Diaz-Horta, Fatma Silan, Ercan Mihci, Emre Ocak, Maryam Najafi, Reza Maroofian, Elanur Yilmaz, Banu G. Nur, Duygu Duman, Shengru Guo, David W. Sant, Gaofeng Wang, Paula V. Monje, Thomas Haaf, Susan H. Blanton, Barbara Vona, Katherina Walz, Mustafa Tekin

Hum Genet. Author manuscript; available in PMC 2019 Jul 7.

Published in final edited form as: Hum Genet. 2018 Jul; 137(6-7): 479–486. Published online 2018 Jul 7. doi: 10.1007/s00439-018-1901-4

PMCID:: PMC6478175

Article PDF–1.0M

Select item 62021203.

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

Khurram Liaqat, Ilene Chiu, Kwanghyuk Lee, Imen Chakchouk, Paula B. Andrade-Elizondo, Regie Lyn P. Santos-Cortez, Shabir Hussain, Shoaib Nawaz, Muhammad Ansar, Muhammad Nasim Khan, Sulman Basit, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

J Hum Genet. Author manuscript; available in PMC 2019 Mar 3.

Published in final edited form as: J Hum Genet. 2018 Nov; 63(11): 1099–1107. Published online 2018 Sep 3. doi: 10.1038/s10038-018-0502-3

PMCID:: PMC6202120

Article PDF–738K

Select item 54853444.

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang, Ming-Yu Han, Guo-Jian Wang, Mei-Guang Zhang, Jia Li, Pu Dai

Neural Plast. 2017; 2017: 3192090. Published online 2017 Jun 13. doi: 10.1155/2017/3192090

PMCID:: PMC5485344

Article PDF–1.1M

Select item 50215735.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 991–1003. Published online 2016 Aug 21. doi: 10.1002/humu.23042

PMCID:: PMC5021573

Article PDF–1.7M

Select item 47868586.

Novel function of LHFPL2 in female and male distal reproductive tract development

Fei Zhao, Jun Zhou, Rong Li, Elizabeth A. Dudley, Xiaoqin Ye

Sci Rep. 2016; 6: 23037. Published online 2016 Mar 11. doi: 10.1038/srep23037

PMCID:: PMC4786858

Article PDF–2.0M

Select item 45673927.

Targeted Gene Capture and Massively Parallel Sequencing Identify TMC1 as the Causative Gene in a Six-generation Chinese Family with Autosomal Dominant Hearing Loss

Xue Gao, Sha-Sha Huang, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu-Bin Ji, Ming-Yu Han, Fei Yu, Dong-Yang Kang, Xi Lin, Pu Dai

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 167(10): 2357–2365. Published online 2015 Jun 16. doi: 10.1002/ajmg.a.37206

PMCID:: PMC4567392

Article PDF–786K

Select item 30143718.

Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

Zubair M. Ahmed, Rizwan Yousaf, Byung Cheon Lee, Shaheen N. Khan, Sue Lee, Kwanghyuk Lee, Tayyab Husnain, Atteeq Ur Rehman, Sarah Bonneux, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal, Vadim N. Gladyshev, Inna A. Belyantseva, Guy Van Camp, Sheikh Riazuddin, Thomas B. Friedman, Saima Riazuddin

Am J Hum Genet. 2011 Jan 7; 88(1): 19–29. doi: 10.1016/j.ajhg.2010.11.010

PMCID:: PMC3014371

Article PDF–1.5M

Select item 26131749.

Targeted knockout and lacZ reporter expression of the mouse Tmhs deafness gene and characterization of the hscy-2J mutation

Chantal M. Longo-Guess, Leona H. Gagnon, Bernd Fritzsch, Kenneth R. Johnson

Mamm Genome. Author manuscript; available in PMC 2009 Jan 1.

Published in final edited form as: Mamm Genome. 2007 Sep; 18(9): 646–656. Published online 2007 Sep 18. doi: 10.1007/s00335-007-9049-x

PMCID:: PMC2613174

Article PDF–1.0M

Select item 256458410.

Mutations of human TMHS cause recessively inherited non‐syndromic hearing loss

M I Shabbir, Z M Ahmed, S Y Khan, Saima Riazuddin, A M Waryah, S N Khan, R D Camps, M Ghosh, M Kabra, I A Belyantseva, T B Friedman, Sheikh Riazuddin

J Med Genet. 2006 Aug; 43(8): 634–640. Published online 2006 Feb 3. doi: 10.1136/jmg.2005.039834

PMCID:: PMC2564584

Article PDF–1.8M

Select item 128517811.

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, Patrick L. M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke, Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armagan Incesulu, Hans-Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner-Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, Istvan Sziklai, Timea Toth, Philip M. Kelley, Edward S. Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne-Françoise Roux, Michel Mondain, Lies H. Hoefsloot, Cor W. R. J. Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Gronskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina-Granade, Nathalie Pallares-Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla J. Nishimura, Richard J. H. Smith, Guy Van Camp

Am J Hum Genet. 2005 Dec; 77(6): 945–957. Published online 2005 Oct 19. doi: 10.1086/497996

PMCID:: PMC1285178

Article PDF–832K

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