C
Claes Möller
Researcher at Örebro University
Publications - 152
Citations - 6135
Claes Möller is an academic researcher from Örebro University. The author has contributed to research in topics: Usher syndrome & Hearing loss. The author has an hindex of 38, co-authored 151 publications receiving 5568 citations. Previous affiliations of Claes Möller include Bispebjerg Hospital & University of Iowa.
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Journal ArticleDOI
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
James D. Eudy,Michael D. Weston,Su Fang Yao,Denise M. Hoover,Heidi L. Rehm,Manling Ma-Edmonds,Denise Yan,Iqbal Ahmad,Jason J. Cheng,Carmen Ayuso,Cor W. R. J. Cremers,S. Davenport,Claes Möller,Catherine B. Talmadge,Kirk W. Beisel,Marta L. Tamayo,Cynthia C. Morton,Anand Swaroop,William J. Kimberling,Janos Sumegi +19 more
TL;DR: Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region of human chromosome 1q41 that has laminin epidermal growth factor and fibronectin type III motifs.
Journal ArticleDOI
Clinical diagnosis of the Usher syndromes
Richard J.H. Smith,Charles I. Berlin,J. F. Hejtmancik,Bronya J.B. Keats,William J. Kimberling,Richard A. Lewis,Claes Möller,M. Z. Pelias,L. Tranebjaerg +8 more
TL;DR: A set of clinical criteria recommended for the diagnosis of Usher Syndrome type I and Usher syndrome type II are described and used in studies reported by members of this Consortium.
Journal ArticleDOI
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II
Michael D. Weston,Michael D. Weston,Mirjam W. J. Luijendijk,Kurt D. Humphrey,Claes Möller,William J. Kimberling +5 more
TL;DR: Denaturing high-performance liquid chromatography and direct sequencing of polymerase-chain-reaction products amplified from 10 genetically independent patients with USH2C and 156 other patients withUSH2 identified four isoform-specific VLGR1 mutations from three families with USh2C, as well as two sporadic cases.
Journal ArticleDOI
Localization of Usher syndrome type II to chromosome 1q.
William J. Kimberling,Michael D. Weston,Claes Möller,S. Davenport,Yin Y. Shugart,Ira Priluck,Alessandro Martini,Massimo Milani,Richard J.H. Smith +8 more
TL;DR: The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.
Journal ArticleDOI
CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness
Lisa M. Astuto,Julie M. Bork,Michael D. Weston,J.W. Askew,Randall R. Fields,Dana J. Orten,S.J. Ohliger,Saima Riazuddin,Robert J. Morell,Shahid Niaz Khan,Hannie Kremer,P. van Hauwe,Claes Möller,C.W.R.J. Cremers,Carmen Ayuso,John R. Heckenlively,Klaus Rohrschneider,Ulrich H. M. Spandau,Jacquie Greenberg,Rajkumar Ramesar,Willie Reardon,Pierre Bitoun,JM Millán,R. Legge,Thomas B. Friedman,William J. Kimberling +25 more
TL;DR: Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina.