Autoimmune Disease in a DFNA6/14/38 Family carrying a Novel Missense Mutation in WFS1

Por Hildebrand, Michael S., Sorensen, Jessica L., Jensen, Maren, Kimberling, William J., Smith, Richard J.H.
Publicado em 2008

Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II

Por Weston, Michael D., Luijendijk, Mirjam W. J., Humphrey, Kurt D., Möller, Claes, Kimberling, William J.
Publicado em 2004

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I

Por Zhou, Qi, Lenger, Chaeli, Smith, Richard, Kimberling, William J, Ye, Ming, Lehmann, Ordan, MacDonald, Ian
Publicado em 2012

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I

Por Jaijo, Teresa, Oshima, Aki, Aller, Elena, Carney, Carol, Usami, Shin-ichi, Millán, José M., Kimberling, William J.
Publicado em 2012

Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

Por Fields, Randall R., Zhou, Guimei, Huang, Dali, Davis, Jack R., Möller, Claes, Jacobson, Samuel G., Kimberling, William J., Sumegi, Janos
Publicado em 2002

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

Por Dreyer, Bo, Tranebjærg, Lisbeth, Brox, Vigdis, Rosenberg, Thomas, Möller, Claes, Beneyto, Magdalena, Weston, Michael D., Kimberling, William J., Nilssen, Øivind
Publicado em 2001

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

Por Hmani-Aifa, Mounira, Benzina, Zeineb, Zulfiqar, Fareeha, Dhouib, Houria, Shahzadi, Amber, Ghorbel, Abdelmonem, Rebaï, Ahmed, Söderkvist, Peter, Riazuddin, Sheikh, Kimberling, William J, Ayadi, Hammadi
Publicado em 2009

Frequency of Usher Syndrome in Two Pediatric Populations: Implications for genetic screening of Deaf and Hard of Hearing Children

Por Kimberling, William J., Hildebrand, Michael S., Shearer, A. Eliot, Jensen, Maren L., Halder, Jennifer A., Cohn, Edward S., Weleber, Richard G., Stone, Edwin M., Smith, Richard J. H.
Publicado em 2010

Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History

Por Reed, Berenice, McFann, Kim, Kimberling, William J., Pei, York, Gabow, Patricia A., Christopher, Karen, Petersen, Eric, Kelleher, Catherine, Fain, Pamela R., Johnson, Ann, Schrier, Robert W.
Publicado em 2008

Mutations in the MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

Por Shearer, A. Eliot, Hildebrand, Michael S., Webster, Jennifer A., Kahrizi, Kimia, Jalalvand, Khadijeh, Arzhanginy, Sanaz, Kimberling, William J., Stephan, Dietrich, Bahlo, Melanie, Smith, Richard J.H., Najmabadi, Hossein
Publicado em 2009

A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

Por Hildebrand, Michael S., Gandolfo, Luke, Shearer, A. Eliot, Webster, Jennifer A., Jensen, Maren, Kimberling, William J., Stephan, Dietrich, Huygen, Patrick L.M., Smith, Richard J.H., Bahlo, Melanie
Publicado em 2010

Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

Por Weston, M. D., Eudy, J. D., Fujita, S., Yao, S.-F., Usami, S., Cremers, C., Greenburg, J., Ramesar, R., Martini, A., Moller, C., Smith, R. J., Sumegi, J., Kimberling, William J.
Publicado em 2000

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

Por Hildebrand, Michael S., Thorne, Natalie P., Bromhead, Catherine J., Kahrizi, Kimia, Webster, Jennifer A., Fattahi, Zohreh, Bataejad, Mojgan, Kimberling, William J., Stephan, Dietrich, Najmabadi, Hossein, Bahlo, Melanie, Smith, Richard J.H.
Publicado em 2010

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family

Por Shearer, A. Eliot, Hildebrand, Michael S., Bromhead, Catherine, Kahrizi, Kimia, Webster, Jennifer A., Azadeh, Batool, Kimberling, William J., Anousheh, Ali, Nazeri, Arash, Stephan, Dietrich, Najmabadi, Hossein, Smith, Richard J.H., Bahlo, Melanie
Publicado em 2009

Gene Mapping of Usher Syndrome Type IIa: Localization of the Gene to a 2.1-cM Segment on Chromosome 1q41

Por Kimberling, William J., Weston, Michael D., Möller, Claes, van Aarem, Annelies, Cremers, Cor W. R. J., Sumegi, J., Ing, Paul S., Connolly, Christopher, Martini, Alessandro, Milani, Massimo, Tamayo, Marta L., Bernal, Jaime, Greenberg, Jacquie, Ayuso, Carmen
Publicado em 1995

Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

Por Hoskins, Bethan E., Cramer, Carl H., Silvius, Derek, Zou, Dan, Raymond, Richard M., Orten, Dana J., Kimberling, William J., Smith, Richard J. H., Weil, Dominique, Petit, Christine, Otto, Edgar A., Xu, Pin-Xian, Hildebrandt, Friedhelm
Publicado em 2007

Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations

Por Jacobson, Samuel G., Cideciyan, Artur V., Gibbs, Dan, Sumaroka, Alexander, Roman, Alejandro J., Aleman, Tomas S., Schwartz, Sharon B., Olivares, Melani B., Russell, Robert C., Steinberg, Janet D., Kenna, Margaret A., Kimberling, William J., Rehm, Heidi L., Williams, David S.
Publicado em 2011

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

Por Grillet, Nicolas, Schwander, Martin, Hildebrand, Michael S., Sczaniecka, Anna, Kolatkar, Anand, Velasco, Janice, Webster, Jennifer A., Kahrizi, Kimia, Najmabadi, Hossein, Kimberling, William J., Stephan, Dietrich, Bahlo, Melanie, Wiltshire, Tim, Tarantino, Lisa M., Kuhn, Peter, Smith, Richard J.H., Müller, Ulrich
Publicado em 2009

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Por Jacobson, Samuel G., Cideciyan, Artur V., Aleman, Tomas S., Sumaroka, Alexander, Roman, Alejandro J., Gardner, Leigh M., Prosser, Haydn M., Mishra, Monalisa, Bech-Hansen, N. Torben, Herrera, Waldo, Schwartz, Sharon B., Liu, Xue-Zhong, Kimberling, William J., Steel, Karen P., Williams, David S.
Publicado em 2008

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

Por Hildebrand, Michael S., Kahrizi, Kimia, Bromhead, Catherine J., Shearer, A. Eliot, Webster, Jennifer A., Khodaei, Hossein, Abtahi, Rezvan, Bazazzadegan, Niloofar, Babanejad, Mojgan, Nikzat, Nooshin, Kimberling, William J., Stephan, Dietrich, Huygen, Partick L.M., Bahlo, Melanie, Smith, Richard J.H., Najmabadi, Hossein
Publicado em 2010