PMC Articles for MedGen (Select 355030) - PMC

Select item 49357121.

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Azim NEJATIZADEH

Iran J Public Health. 2016 May; 45(5): 680–687.

PMCID:: PMC4935712

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Select item 43601852.

Otolith tethering in the zebrafish otic vesicle requires Otogelin and α-Tectorin

Georgina A. Stooke-Vaughan, Nikolaus D. Obholzer, Sarah Baxendale, Sean G. Megason, Tanya T. Whitfield

Development. 2015 Mar 15; 142(6): 1137–1145. doi: 10.1242/dev.116632

PMCID:: PMC4360185

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Select item 37295593.

Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment

Zhengyue Li, Yilian Guo, Yu Lu, Jianzhong Li, Zhanguo Jin, Hongbo Li, Yanping Lu, Pu Dai, Dongyi Han, Jing Cheng, Huijun Yuan

PLoS One. 2013; 8(7): e70134. Published online 2013 Jul 31. doi: 10.1371/journal.pone.0070134

PMCID:: PMC3729559

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Select item 25046054.

Characterization of a Spontaneous, Recessive, Missense Mutation Arising in the Tecta Gene

Miguel Ángel Moreno-Pelayo, Richard J. Goodyear, Angeles Mencía, Silvia Modamio-Høybjør, P. Kevin Legan, Leticia Olavarrieta, Felipe Moreno, Guy P. Richardson

J Assoc Res Otolaryngol. 2008 Jun; 9(2): 202–214. Published online 2008 May 2. doi: 10.1007/s10162-008-0116-0

PMCID:: PMC2504605

Article PubReader PDF–647K Cite

Select item 55836255.

Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran

Masoud Akbarzadeh Laleh, Marzieh Naseri, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari, Leila Shams, Azim Nejatizadeh

J Res Med Sci. 2017; 22: 99. Published online 2017 Aug 16. doi: 10.4103/jrms.JRMS_976_16

PMCID:: PMC5583625

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Select item 34817676.

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss

MA Tabatabaiefar, F Alasti, M Montazer Zohour, L Shariati, E Farrokhi, DD Farhud, GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori

Iran J Public Health. 2011; 40(2): 34–48. Published online 2011 Jun 30.

PMCID:: PMC3481767

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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 81874018.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John Pappas, Rachel Rabin, Margaret A. Kenna, Andrea M. Oza, Katherine Lafferty, Sami S. Amr, Heidi L. Rehm, Diana L. Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C. Morton, Sholem Y. Scher, Josef Ekstein, Karen B. Avraham, Richard J. H. Smith, Jun Shen

Eur J Hum Genet. 2021 Jun; 29(6): 988–997. Published online 2021 Jan 4. doi: 10.1038/s41431-020-00790-w

PMCID:: PMC8187401

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Select item 76729579.

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian, Samira Asgharzade

BMC Med Genet. 2020; 21: 226. Published online 2020 Nov 18. doi: 10.1186/s12881-020-01168-x

PMCID:: PMC7672957

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Select item 723563010.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J. Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen-Fu Cheng, Karen B. Avraham, Xinhua Hu, Gema Garrido, Miguel A. Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun

Genet Med. Author manuscript; available in PMC 2020 May 19.

Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2442–2452. Published online 2019 Jun 4. doi: 10.1038/s41436-019-0535-9

PMCID:: PMC7235630

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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

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Select item 561338212.

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Nobuko Yamamoto, Hideki Mutai, Kazunori Namba, Noriko Morita, Shin Masuda, Yasuyuki Nishi, Atsuko Nakano, Sawako Masuda, Masato Fujioka, Kimitaka Kaga, Kaoru Ogawa, Tatsuo Matsunaga

Orphanet J Rare Dis. 2017; 12: 157. Published online 2017 Sep 25. doi: 10.1186/s13023-017-0708-z

PMCID:: PMC5613382

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Select item 464161913.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay

PLoS One. 2015; 10(11): e0142154. Published online 2015 Nov 11. doi: 10.1371/journal.pone.0142154

PMCID:: PMC4641619

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Select item 399407814.

Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss

Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

PLoS One. 2014; 9(4): e95646. Published online 2014 Apr 21. doi: 10.1371/journal.pone.0095646

PMCID:: PMC3994078

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Select item 383536915.

SLC26A4 Variations Among Graves’ Hyper-Functioning Thyroid Gland

Hassen Hadj-Kacem, Rihab Kallel, Salima Belguith-Maalej, Mouna Mnif, Ilhem Charfeddine, Abdelmounem Ghorbel, Mohamed Abid, Hammadi Ayadi, Saber Masmoudi

Dis Markers. 2010; 29(2): 63–69. Published online 2010 Nov 2. doi: 10.3233/DMA-2010-0727

PMCID:: PMC3835369

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Select item 366421816.

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

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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

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Select item 293695618.

High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects

Mariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar, Shahid Mahmood Baig, Mirna Mustapha, Sedigheh Delmaghani, Abdelaziz Tlili, Abdelmonem Ghorbel, Hammadi Ayadi, Guy Van Camp, Richard J.H. Smith, Mustafa Tekin, Saber Masmoudi

Genet Test Mol Biomarkers. 2010 Jun; 14(3): 307–311. doi: 10.1089/gtmb.2009.0174

PMCID:: PMC2936956

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Select item 191507719.

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

B. Bonné-Tamir, A. L. DeStefano, C. E. Briggs, R. Adair, B. Franklyn, S. Weiss, M. Korostishevsky, M. Frydman, C. T. Baldwin, L. A. Farrer

Am J Hum Genet. 1996 Jun; 58(6): 1254–1259.

PMCID:: PMC1915077

Summary Page Browse PDF–925K Cite

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