PMC Links for GEO Profiles (Select 113644800) - PMC

Select item 66734801.

A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function

Martin Schwander, Anna Sczaniecka, Nicolas Grillet, Janice S. Bailey, Matthew Avenarius, Hossein Najmabadi, Brian M. Steffy, Glenn C. Federe, Erica A. Lagler, Raheleh Banan, Rudy Hice, Laura Grabowski-Boase, Elisabeth M. Keithley, Allen F. Ryan, Gary D. Housley, Tim Wiltshire, Richard J. H. Smith, Lisa M. Tarantino, Ulrich Müller

J Neurosci. 2007 Feb 28; 27(9): 2163–2175. doi: 10.1523/JNEUROSCI.4975-06.2007

PMCID:: PMC6673480

Abstract Article PDF–949K

Select item 48761122.

Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

Amit K. Mitra, Holly A. F. Stessman, Robert J. Schaefer, Wen Wang, Chad L. Myers, Brian G. Van Ness, Soraya Beiraghi

Front Genet. 2016; 7: 88. Published online 2016 May 23. doi: 10.3389/fgene.2016.00088

PMCID:: PMC4876112

Abstract Article PDF–1.2M

Select item 33091963.

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

S. Amer Riazuddin, David S. Parker, Elyse J. McGlumphy, Edwin C. Oh, Benjamin W. Iliff, Thore Schmedt, Ula Jurkunas, Robert Schleif, Nicholas Katsanis, John D. Gottsch

Am J Hum Genet. 2012 Mar 9; 90(3): 533–539. doi: 10.1016/j.ajhg.2012.01.013

PMCID:: PMC3309196

Abstract Article PDF–853K

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 27715345.

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A. Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kuhn, Richard J.H. Smith, Ulrich Müller

Am J Hum Genet. 2009 Sep 11; 85(3): 328–337. doi: 10.1016/j.ajhg.2009.07.017

PMCID:: PMC2771534

Abstract Article PDF–1.5M

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