PMC Articles for MedGen (Select 1726617) - PMC

Select item 69260401.

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Paul Avan, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit, Elisabeth Verpy

Proc Natl Acad Sci U S A. 2019 Dec 17; 116(51): 25948–25957. Published online 2019 Nov 27. doi: 10.1073/pnas.1902781116

PMCID:: PMC6926040

Abstract Article PDF–3.3M

Select item 64107742.

Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model

Omar Akil, Frank Dyka, Charlotte Calvet, Alice Emptoz, Ghizlene Lahlou, Sylvie Nouaille, Jacques Boutet de Monvel, Jean-Pierre Hardelin, William W. Hauswirth, Paul Avan, Christine Petit, Saaid Safieddine, Lawrence R. Lustig

Proc Natl Acad Sci U S A. 2019 Mar 5; 116(10): 4496–4501. Published online 2019 Feb 19. doi: 10.1073/pnas.1817537116

PMCID:: PMC6410774

Abstract Article PDF–1.6M

Select item 59601483.

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona

BMC Med Genet. 2018; 19: 81. Published online 2018 May 18. doi: 10.1186/s12881-018-0598-5

PMCID:: PMC5960148

Abstract Article PDF–3.2M

Select item 58571424.

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng

BMC Pediatr. 2018; 18: 116. Published online 2018 Mar 17. doi: 10.1186/s12887-018-1091-1

PMCID:: PMC5857142

Abstract Article PDF–595K

Select item 13770465.

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

P M Kelley, D J Harris, B C Comer, J W Askew, T Fowler, S D Smith, W J Kimberling

Am J Hum Genet. 1998 Apr; 62(4): 792–799. doi: 10.1086/301807

PMCID:: PMC1377046

Summary PDF–492K

Select item 12260396.

A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

Bo Dreyer, Lisbeth Tranebjærg, Vigdis Brox, Thomas Rosenberg, Claes Möller, Magdalena Beneyto, Michael D. Weston, William J. Kimberling, Øivind Nilssen

Am J Hum Genet. 2001 Jul; 69(1): 228–234. Published online 2001 Jun 8. doi: 10.1086/321269

Correction in:: Am J Hum Genet. 2001 Oct; 69(4): 922.

PMCID:: PMC1226039

Abstract Article PDF–86K

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