PMC Articles for MedGen (Select 481290) - PMC

Select item 81874011.

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

Abstract Article PDF–1.7M

Select item 78249512.

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh

Biomolecules. 2021 Jan; 11(1): 61. Published online 2021 Jan 5. doi: 10.3390/biom11010061

PMCID:: PMC7824951

Abstract Article PDF–2.2M

Select item 72297793.

Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations

Kelly N. Jahn, Molly D. Bergan, Julie G. Arenberg

Am J Audiol. 2020 Mar; 29(1): 23–34. Published online 2020 Jan 14. doi: 10.1044/2019_AJA-19-00054

PMCID:: PMC7229779

Abstract Article PDF–276K

Select item 63890814.

Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh, Byung Yoon Choi

BMC Med Genet. 2018; 19: 29. Published online 2018 Feb 27. doi: 10.1186/s12881-018-0541-9

PMCID:: PMC6389081

Abstract Article PDF–1.3M

Select item 59964555.

Emerging roles of TRIO and F-actin-binding protein in human diseases

Sungjin Park, Hyunji Lee, Minhee Kim, Jisoo Park, Seon-Hwan Kim, Jongsun Park

Cell Commun Signal. 2018; 16: 29. Published online 2018 Jun 11. doi: 10.1186/s12964-018-0237-y

PMCID:: PMC5996455

Abstract Article PDF–1.1M

Select item 57359366.

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes

K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2

PMCID:: PMC5735936

Abstract Article PDF–1.1M

Select item 47319517.

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

Abstract Article PDF–1.5M

Select item 46416198.

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

Abstract Article PDF–446K

Select item 39940789.

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

Abstract Article PDF–2.3M

Select item 383536910.

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

Summary PDF–1.5M

Select item 305862711.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population

Michael S. Hildebrand, Kimia Kahrizi, Catherine J. Bromhead, A. Eliot Shearer, Jennifer A. Webster, Hossein Khodaei, Rezvan Abtahi, Niloofar Bazazzadegan, Mojgan Babanejad, Nooshin Nikzat, William J. Kimberling, Dietrich Stephan, Partick L.M. Huygen, Melanie Bahlo, Richard J.H. Smith, Hossein Najmabadi

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2011 Mar 16.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2010 Dec; 119(12): 830–835. doi: 10.1177/000348941011901207

PMCID:: PMC3058627

Abstract Article PDF–273K

Select item 284566712.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.

PMCID:: PMC2845667

Abstract Article PDF–914K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 12

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity