Ethical and social implications of genetic testing for communication disorders

Por Arnos, Kathleen S.
Publicado em 2008

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Por Pandya, Arti, O'Brien, Alexander, Kovasala, Michael, Bademci, Guney, Tekin, Mustafa, Arnos, Kathleen S.
Publicado no Mol Genet Genomic Med (2020)

GPSM2 Mutations in Chudley-McCullough Syndrome

Por Diaz-Horta, Oscar, Sirmaci, Asli, Doherty, Dan, Nance, Walter, Arnos, Kathleen, Pandya, Arti, Tekin, Mustafa
Publicado em 2012

A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart

Por Arnos, Kathleen S., Welch, Katherine O., Tekin, Mustafa, Norris, Virginia W., Blanton, Susan H., Pandya, Arti, Nance, Walter E.
Publicado em 2008

Fitness among individuals with early childhood deafness: studies in alumni families from Gallaudet University

Por BLANTON, SUSAN H., NANCE, WALTER E., NORRIS, VIRGINIA W., WELCH, KATHERINE O., BURT, AMBER, PANDYA, ARTI, ARNOS, KATHLEEN S.
Publicado em 2009

Vestibular Dysfunction in DFNB1 deafness

Por Dodson, Kelley M, Blanton, Susan H, Welch, Katherine O, Norris, Virginia W, Nuzzo, Regina L, Wegelin, Jacob A., Marin, Ruth S, Nance, Walter E, Pandya, Arti, Arnos, Kathleen S
Publicado em 2011

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Por Rendtorff, Nanna D., Lodahl, Marianne, Boulahbel, Houda, Johansen, Ida R., Pandya, Arti, Welch, Katherine O., Norris, Virginia W., Arnos, Kathleen S., Bitner-Glindzicz, Maria, Emery, Sarah B., Mets, Marilyn B., Fagerheim, Toril, Eriksson, Kristina, Hansen, Lars, Bruhn, Helene, Möller, Claes, Lindholm, Sture, Ensgård, Stefan, Lesperance, Marci M., Tranebjærg, Lisbeth
Publicado em 2011

Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes

Por Farrer, Lindsay A., Arnos, Kathleen S., Asher, James H., Baldwin, Clinton T., Diehl, Scott R., Friedman, Thomas B., Greenberg, Jacquie, Grundfast, Kenneth M., Hoth, Christopher, Lalwani, Anil K., Landa, Barbara, Leverton, Kate, Milunsky, Aubrey, Morell, Robert, Nance, Walter E., Newton, Valerie, Ramesar, Rajkumar, Rao, Valluri S., Reynolds, Jennifer E., Agustin, Theresa B. San, Wilcox, Edward R., Winship, Ingrid, Read, Andrew P.
Publicado em 1994

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Por Choi, Byung Yoon, Stewart, Andrew K., Madeo, Anne C., Pryor, Shannon P., Lenhard, Suzanne, Kittles, Rick, Eisenman, David, Kim, H. Jeffrey, Niparko, John, Thomsen, James, Arnos, Kathleen S., Nance, Walter E., King, Kelly A., Zalewski, Christopher K., Brewer, Carmen C., Shawker, Thomas, Reynolds, James C., Butman, John A., Karniski, Lawrence P., Alper, Seth L., Griffith, Andrew J.
Publicado em 2009

Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

Por Farrer, Lindsay A., Grundfast, Kenneth M., Amos, Jean, Arnos, Kathleen S., Asher, James H., Beighton, Peter, Diehl, Scott R., Fex, Jörgen, Foy, Carole, Friedman, Thomas B., Greenberg, Jacquie, Hoth, Christopher, Marazita, Mary, Milunsky, Aubrey, Morell, Robert, Nance, Walter, Newton, Valerie, Ramesar, Rajkumar, Agustin, Theresa B. San, Skare, James, Stevens, Cathy A., Wagner, Ronald G., Wilcox, Edward R., Winship, Ingrid, Read, Andrew P.
Publicado em 1992

Loss of LDAH associated with prostate cancer and hearing loss

Por Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C
Publicado no Hum Mol Genet (2018)

Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss

Por Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C
Publicado no Hum Mol Genet (2019)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Por Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
Publicado em 2009