PMC Articles for MedGen (Select 330838) - PMC

Select item 28456671.

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

Select item 100882832.

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee

BMC Med Genomics. 2023; 16: 79. Published online 2023 Apr 11. doi: 10.1186/s12920-023-01506-x

PMCID:: PMC10088283

Abstract Article PDF–4.1M

Select item 66271143.

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Olga L. Posukh, Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov, Michael I. Voevoda

Genes (Basel) 2019 Jun; 10(6): 429. Published online 2019 Jun 5. doi: 10.3390/genes10060429

PMCID:: PMC6627114

Abstract Article PDF–1.2M

Select item 30804334.

Vestibular Dysfunction in DFNB1 deafness

Kelley M Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya, Kathleen S Arnos

Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 993–1000. Published online 2011 Apr 4. doi: 10.1002/ajmg.a.33828

PMCID:: PMC3080433

Abstract Article PDF–317K

Select item 29091085.

Localization of A Novel Autosomal Recessive Non-Syndromic Hearing Impairment Locus (DFNB38) to 6q26–q27 in a Consanguineous Kindred from Pakistan

Muhammad Ansar, Mohammad Ramzan, Thanh L. Pham, Kai Yan, Syed Muhammad Jamal, Sayedul Haque, Wasim Ahmad, Suzanne M. Leal

Hum Hered. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Hum Hered. 2003; 55(1): 71–74. doi: 10.1159/000071813

PMCID:: PMC2909108

Abstract Article PDF–779K

Select item 29091006.

Mapping of a Novel Autosomal Recessive Nonsyndromic Deafness Locus (DFNB46) to Chromosome 18p11.32-p11.31

Asif Mir, Muhammad Ansar, Maria H. Chahrour, Thanh L. Pham, Muhammad Wajid, Sayedul Haque, Kai Yan, Wasim Ahmad, Suzanne M. Leal

Am J Med Genet A. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Am J Med Genet A. 2005 Feb 15; 133A(1): 23–26. doi: 10.1002/ajmg.a.30516

PMCID:: PMC2909100

Abstract Article PDF–546K

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