Molecular genetics of inherited eye disorders Kimberling William, Clinical and genetic heterogeneity of Usher syndrome [Book Chapter] 1994
Articles
Weston M. D., Dinucleotide repeat polymorphism in the TGFB2 gene 1994
Weston M. D., Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41 1994
Dahl S. Pieke, Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR) 1993
Overbeck Larry D., A new highly polymorphic dinucleotide (CT)n repeat polymorphism D1S158 on chromsome 1q isolated by microdissection 1992
Publications
International journal of molecular sciences Cerutis D. Roselyn, Entering, Linked with the Sphinx: Lysophosphatidic Acids Everywhere, All at Once, in the Oral System and Cancer 24:12, p. 10278 2023
Scientific Reports Tarang Shikha, In silico Design of a Multivalent Vaccine Against Candida albicans 10:1 2020
Hearing Research Tarang Shikha, Spatiotemporally controlled overexpression of cyclin D1 triggers generation of supernumerary cells in the postnatal mouse inner ear 390 2020
Journal of Visualized Experiments Tarang Shikha, Inducible and reversible dominant-negative (DN) protein inhibition 2019:143 2019
Scientific Reports Weston Michael D., A mouse model of MIR-96, MIR-182 and MIR-183 misexpression implicates MIRNAs in cochlear cell fate and homeostasis 8:1 2018
The FASEB journal Cerutis D. Roselyn, Lysophosphatidic Acid Regulates the Vitamin D Receptor and its Metabolism‐Related Genes in Human Gingival Fibroblasts 32:S1, p. lb562 - lb562 2018
Journal of Periodontology Cerutis D. Roselyn, A Major Human Oral Lysophosphatidic Acid Species, LPA 18:1, Regulates Novel Genes in Human Gingival Fibroblasts 86:5, p. 713 - 725 2015
Genomics Data Cerutis D. Roselyn, Lysophosphatidic Acid (LPA) 18:1 Transcriptional Regulation of Primary Human Gingival Fibroblasts 2, p. 375 - 377 2014
RNA Biology Tarang Shikha, Macros in microRNA target identification: A comparative analysis of in silico, in vitro, and in vivo approaches to microRNA target identification 11:4, p. 324 - 333 2014
The FASEB journal Cerutis D. Roselyn, Lysophosphatidic acid regulates SPHK1 and GPR68/OGR1 in human gingival fibroblasts 27:S1 2013
Journal of behavioral and brain science Rocha-Sanchez Sonia M., Lack of Rbl1/p107 Effects on Cell Proliferation and Maturation in the Inner Ear 3:7, p. 534 - 555 2013
The FASEB journal Cerutis D. Roselyn, Lysophosphatidic acid regulates a complex array of genes in human gingival fibroblasts 25, p. 539.1 - 539.1 2011
Developmental Dynamics Weston Michael D., MicroRNA-183 family expression in hair cell development and requirement of microRNAs for hair cell maintenance and survival 240:4, p. 808 - 819 2011
Journal of Neuroscience Rocha-Sanchez Sonia M., Mature mice lacking Rbl2/p130 gene have supernumerary inner ear hair cells and supporting cells 31:24, p. 8883 - 8893 2011
Genome Medicine Weston Michael D., MicroRNAs sound off 1:6, p. 59 2009
Developmental Biology Soukup Garrett A., Residual microRNA expression dictates the extent of inner ear development in conditional Dicer knockout mice 328:2, p. 328 - 341 2009
Evolution & Development Pierce Marsha L., MicroRNA-183 family conservation and ciliated neurosensory organ expression 10:1, p. 106 - 113 2008
Evolution & Development Okoruwa Oseremen E., Evolutionary insights into the unique electromotility motor of mammalian outer hair cells 10:3, p. 300 - 315 2008
Journal of Medical Genetics Cremers Frans P.M., Development of a genotyping microarray for Usher syndrome 44:2, p. 153 - 160 2007
Brain Research Weston Michael D., MicroRNA gene expression in the mouse inner ear 1111:1, p. 95 - 104 2006
Genomics Johnson K. R., The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC 85:5, p. 582 - 590 2005
Human mutation Pennings Ronald J.E., USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 24:2, p. 185 2004
American journal of human genetics Weston Michael D., Mutations in the VLGR1 Gene Implicate G-Protein Signaling in the Pathogenesis of Usher Syndrome Type II 74:2, p. 357 - 366 2004
Otology and Neurotology Pennings Ronald J.E., Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene 24:1, p. 58 - 63 2003
American Journal of Medical Genetics Astuto Lisa M., Searching for evidence of DFNB2 109:4, p. 291 - 297 2002
American journal of human genetics Astuto L. M., CDH23 mutation and phenotype heterogeneity 71:2, p. 262 - 275 2002
Genomics Huang Dali, Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease 80:2, p. 195 - 203 2002
Experimental Eye Research Leroy Bart P., Spectrum of mutations in USH2A in british patients with usher syndrome type II 72:5, p. 503 - 509 2001
American journal of human genetics Dreyer Bo, A common ancestral origin of the frequent and widespread 2299delG USH2A mutation 69:1, p. 228 - 234 2001
European Journal of Human Genetics Dreyer Bo, Identification of novel USH2A mutations 8:7, p. 500 - 506 2000
Human mutation Adato A., Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. 15:4, p. 388 2000
Human mutation Orten D. J., Erratum 15:1, p. 114 - 115 2000
American journal of human genetics Weston M. D., Genomic structure and identification of novel mutations in Usherin, the gene responsible for usher syndrome type IIa 66:4, p. 1199 - 1210 2000
American journal of human genetics Astuto Lisa M., Genetic heterogeneity of usher syndrome 67:6, p. 1569 - 1574 2000
Human mutation Orten D. J., Analysis of DNA elements that modulate myosin VIIA expression in humans. 14:4, p. 354 1999
Human Genetics Usami Shin Ichi, Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations 104:2, p. 188 - 192 1999
Genomics Eudy James D., Isolation of a gene encoding a novel member of the nuclear receptor superfamily from the critical region of usher syndrome type IIa at 1q41 50:3, p. 382 - 384 1998
Science Eudy James D., Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa 280:5370, p. 1753 - 1757 1998
Human mutation Kumar Shrawan, Identification of three novel mutations in human EYA1 protein associated with Branchio-oto-renal syndrome 11:6, p. 443 - 449 1998
European Journal of Human Genetics Abe Satoko, Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation 6:6, p. 563 - 569 1998
Journal of Laryngology and Otology Eudy J. D., Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type la locus at 14q32 112:1, p. 113 1998
Genomics Eudy James D., Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type la locus at 14q32 43:1, p. 104 - 106 1997
Genomics Kelley Philip M., The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A) 40:1, p. 73 - 79 1997
American journal of human genetics Weston M. D., Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients 59:5, p. 1074 - 1083 1996
Genomics Sumegi Janos, The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41 35:1, p. 79 - 86 1996
Genomics Talmadge Catherine B., Construction and characterization of a NotI linking library from human chromosome region 1q25-qter 29:1, p. 105 - 114 1995
American journal of human genetics Kimberling W. J., Gene mapping of Usher syndrome type IIa 56:1, p. 216 - 223 1995
Nature Well Dominique, Defective myosin VIIA gene responsible for Usher syndrome type IB 374:6517, p. 60 - 61 1995
American Journal of Human Genetics Kelley P.M., A 3 Mb YAC contig in the region of Usher Ib on chromosome 11q 55:Suppl.3 1994
Human Molecular Genetics Overbeck Larry D., Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4 2:5, p. 611 1993
Journal of Medical Genetics Dahl S. P., Genetic heterogeneity of Usher syndrome type II 30:10, p. 843 - 848 1993
Genomics Kimberling W. J., Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11 14:4, p. 988 - 994 1992
Annals of the New York Academy of Sciences WESTON MICHAEL D., A Progress Report on the Localization of Usher Syndrome Type II to Chromosome 1q 630:1, p. 284 - 287 1991
Annals of the New York Academy of Sciences KIMBERLING W. J., Genetic Studies of Usher Syndrome 630:1, p. 167 - 175 1991
Annals of the New York Academy of Sciences DAHL S. PIEKE, Report on Attempts to Localize Usher Syndrome Type 1 by Linkage Analysis to Selected Candidate Regions 630:1, p. 298 - 300 1991
Genomics Kimberling William J., Localization of Usher syndrome type II to chromosome 1q 7:2, p. 245 - 249 1990
Laryngoscope Kimberling William J., Usher syndrome 99:1, p. 66 - 72 1989