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Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Published in:
Nature Genetics, 2002, v. 30, n. 3, p. 257, doi. 10.1038/ng848
By:
- Vreugde, Sarah;
- Erven, Alexandra;
- Kros, Corné J.;
- Marcotti, Walter;
- Fuchs, Helmut;
- Kurima, Kiyoto;
- Wilcox, Edward R.;
- Friedman, Thomas B.;
- Griffith, Andrew J.;
- Balling, Rudi;
- Hrabé de Angelis, Martin;
- Avraham, Karen B.;
- Steel, Karen P.
Publication type:
Article
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Published in:
Nature Genetics, 2000, v. 26, n. 4, p. 431, doi. 10.1038/82558
By:
- Riazuddin, Saima;
- Castelein, Caley M.;
- Ahmed, Zubair M.;
- Lalwani, Anil K.;
- Mastroianni, Mary A.;
- Naz, Sadaf;
- Smith, Tenesha N.;
- Liburd, Nikki A.;
- Friedman, Thomas B.;
- Griffith, Andrew J.;
- Riazuddin, Sheikh;
- Wilcox, Edward R.
Publication type:
Article
A Five-Generation Family with Late-Onset Progressive Hereditary Hearing Impairment Due to Cochleosaccular Degeneration.
Published in:
Audiology & Neurotology, 1997, v. 2, n. 3, p. 139, doi. 10.1159/000259237
By:
- Lalwani, Anil K.;
- Linthicum, Fred H.;
- Wilcox, Edward R.;
- Moore, Jean K.;
- Walters, Frederick C.;
- San Agustin, Theresa B.;
- Mislinski, J.;
- Miller, M.R.;
- Sinninger, Yvonne;
- Attaie, Ali;
- Luxford, William M.
Publication type:
Article
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
Published in:
Human Genetics, 2002, v. 110, n. 6, p. 527, doi. 10.1007/s00439-002-0732-4
By:
- Ahmed, Zubair M.;
- Smith, Tenesha N.;
- Riazuddin, Saima;
- Makishima, Tomoko;
- Ghosh, Manju;
- Bokhari, Sirosh;
- Menon, Puthezhath S.;
- Deshmukh, Dilip;
- Griffith, Andrew J.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.;
- Wilcox, Edward R.
Publication type:
Article
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Published in:
Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
By:
- Liburd, Nikki;
- Ghosh, Manju;
- Riazuddin, Saima;
- Naz, Sadaf;
- Khan, Shaheen;
- Ahmed, Zubair;
- Riazuddin, Sheikh;
- Yong Liang;
- Menon, Puthezhath S. N.;
- Smith, Tenesha;
- Smith, Ann C. M.;
- Ken-Shiung Chen;
- Lupski, James R.;
- Wilcox, Edward R.;
- Potocki, Lorraine;
- Friedman, Thomas B.
Publication type:
Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Published in:
2009
By:
- Doucette, Lance;
- Merner, Nancy D;
- Cooke, Sandra;
- Ives, Elizabeth;
- Galutira, Dante;
- Walsh, Vanessa;
- Walsh, Tom;
- MacLaren, Linda;
- Cater, Tracey;
- Fernandez, Bridget;
- Green, Jane S;
- Wilcox, Edward R;
- Shotland, Larry;
- Li, X C;
- Lee, Ming;
- King, Mary-Claire;
- Young, Terry-Lynn
Publication type:
Correction Notice
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231
By:
- Doucette, Lance;
- Merner, Nancy D.;
- Cooke, Sandra;
- Ives, Elizabeth;
- Galutira, Dante;
- Walsh, Vanessa;
- Walsh, Tom;
- MacLaren, Linda;
- Cater, Tracey;
- Fernandez, Bridget;
- Green, Jane S.;
- Wilcox, Edward R.;
- Shotland, Larry;
- Li, X. C.;
- Lee, Ming;
- King, Mary-Claire;
- Young, Terry-Lynn
Publication type:
Article
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15.
Published in:
Journal of Neuroscience, 2006, v. 26, n. 26, p. 7022, doi. 10.1523/JNEUROSCI.1163-06.2006
By:
- Ahmed, Zubair M.;
- Goodyear, Richard;
- Riazuddin, Saima;
- Lagziel, Ayala;
- Legan, P. Kevin;
- Behra, Martine;
- Burgess, Shawn M.;
- Lilley, Kathryn S.;
- Wilcox, Edward R.;
- Riazuddin, Sheikh;
- Griffith, Andrew J.;
- Frolenkov, Gregory I.;
- Belyantseva, Inna A.;
- Richardson, Guy P.;
- Friedman, Thomas B.
Publication type:
Article
Highly accurate long reads are crucial for realizing the potential of biodiversity genomics.
Published in:
BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09193-9
By:
- Hotaling, Scott;
- Wilcox, Edward R.;
- Heckenhauer, Jacqueline;
- Stewart, Russell J.;
- Frandsen, Paul B.
Publication type:
Article
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
Published in:
2018
By:
- Yousaf, Rizwan;
- Ahmed, Zubair M.;
- Giese, Arnaud P. J.;
- Morell, Robert J.;
- Lagziel, Ayala;
- Dabdoub, Alain;
- Wilcox, Edward R.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.;
- Riazuddin, Saima;
- Giese, Arnaud Pj
Publication type:
journal article
Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics.
Published in:
Genome Biology & Evolution, 2011, v. 3, p. 1312, doi. 10.1093/gbe/evr106
By:
- Bybee, Seth M.;
- Bracken-Grissom, Heather;
- Haynes, Benjamin D.;
- Hermansen, Russell A.;
- Byers, Robert L.;
- Clement, Mark J.;
- Udall, Joshua A.;
- Wilcox, Edward R.;
- Crandall, Keith A.
Publication type:
Article
STRUCTURAL FEATURES OF RED KIDNEY BEAN á-AMYLASE INHIBITOR IMPORTANT IN BINDING WITH á-AMYLASE.
Published in:
Journal of Food Biochemistry, 1984, v. 8, n. 3, p. 189, doi. 10.1111/j.1745-4514.1984.tb00324.x
By:
- WILCOX, EDWARD R.;
- WHITAKER, JOHN R.
Publication type:
Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Published in:
Human Mutation, 2008, v. 29, n. 4, p. 502, doi. 10.1002/humu.20677
By:
- Riazuddin, Saima;
- Nazli, Sabiha;
- Ahmed, Zubair M.;
- Yang, Yi;
- Zulfiqar, Fareeha;
- Shaikh, Rehan S.;
- Zafar, Ahmed U.;
- Khan, Shaheen N.;
- Sabar, Farooq;
- Javid, Fouzia T.;
- Wilcox, Edward R.;
- Tsilou, Ekaterini;
- Boger, Erich T.;
- Sellers, James R.;
- Belyantseva, Inna A.;
- Riazuddin, Sheikh;
- Friedman, Thomas B.
Publication type:
Article
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358
By:
- Ahmed, Zubair M.;
- Riazuddin, Saima;
- Ahmad, Jamil;
- Bernstein, Steve L.;
- Guo, Yan;
- Sabar, Muhammad F.;
- Sieving, Paul;
- Riazuddin, Sheikh;
- Griffith, Andrew J.;
- Friedman, Thomas B.;
- Belyantseva, Inna A.;
- Wilcox, Edward R.
Publication type:
Article
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 16, p. 2049, doi. 10.1093/hmg/ddg210
By:
- Ben-Yosef, Tamar;
- Belyantseva, Inna A.;
- Saunders, Thomas L.;
- Hughes, Elizabeth D.;
- Kawamoto, Kohei;
- Van Itallie, Christina M.;
- Beyer, Lisa A.;
- Halsey, Kärin;
- Gardner, Donald J.;
- Wilcox, Edward R.;
- Rasmussen, Julia;
- Anderson, James M.;
- Dolan, David F.;
- Forge, Andrew;
- Raphael, Yehoash;
- Camper, Sally A.;
- Friedman, Thomas B.
Publication type:
Article
A Gene for Autosomal Dominant Late-Onset Progressive Non-Syndromic Hearing Loss, DFNA10, Maps to Chromosome 6.
Published in:
Human Molecular Genetics, 1996, v. 5, n. 6, p. 853, doi. 10.1093/hmg/5.6.853
By:
- O'Neill, Marsha E.;
- Marietta, Jacquie;
- Nishimura, Darryl;
- Wayne, Sigrid;
- Van Camp, Guy;
- Van Laer, Lut;
- Negrini, Clelia;
- Wilcox, Edward R.;
- Chen, Achih;
- Fukushima, Kunihiro;
- Ni, Li;
- Sheffield, Val C.;
- Smith, Richard J. H.
Publication type:
Article
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 12, p. 2391
By:
- Jain, Pawan K.;
- Fukushima, Kunihiro;
- Deshmukh, Dilip;
- Ramesh, Arabandi;
- Thomas, Elizabeth;
- Lalwani, Anil K.;
- Kumar, Subrinder;
- Ploplis, Barbara;
- Skarka, Hana;
- Srisailapathy, C.R.Srikumari;
- Wayne, Sigrid;
- Zbar, Ross I.S.;
- Verma, Ishwar C.;
- Smith, Richard J.H.;
- Wilcox, Edward R.
Publication type:
Article
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 10, p. 1967
By:
- Lesperance, Marci M.;
- Hail, James W.;
- Bess, Fred H.;
- Fukushima, Kunihiro;
- Jain, Pawan K.;
- Plopils, Barbara;
- Agustin, Theresa B.San;
- Skarka, Hana;
- Smith, Richard J.H.;
- Wills, Marketa;
- Wilcox, Edward R.
Publication type:
Article
The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat.
Published in:
Human Molecular Genetics, 1992, v. 1, n. 3, p. 215
By:
- Wilcox, Edward R.;
- Rivolta, Marcelo N.;
- Ploplis, Barbara;
- Potterf, Steven B.;
- Fex, Jörgen
Publication type:
Article
Genotype-phenotype correlations in type 1 Waardenburg syndrome.
Published in:
1996
By:
- Lalwani, Anil K.;
- Mhatre, Anand N.;
- San Agustin, Theresa B.;
- Wilcox, Edward R.;
- Lalwani, A K;
- Mhatre, A N;
- San Agustin, T B;
- Wilcox, E R
Publication type:
journal article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Published in:
BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-24
By:
- Ahmed, Zubair M.;
- Li, Xiaoyan Cindy;
- Powell, Shontell D.;
- Riazuddin, Saima;
- Young, Terry-Lynn;
- Ramzan, Khushnooda;
- Ahmad, Zahoor;
- Luscombe, Sandra;
- Dhillon, Kiran;
- MacLaren, Linda;
- Ploplis, Barbara;
- Shotland, Lawrence I.;
- Ives, Elizabeth;
- Riazuddin, Sheikh;
- Friedman, Thomas B.;
- Morell, Robert J.;
- Wilcox, Edward R.
Publication type:
Article

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