Ethical and social implications of genetic testing for communication disorders

著者: Arnos, Kathleen S.
出版事項 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

著者: Pandya, Arti, O'Brien, Alexander, Kovasala, Michael, Bademci, Guney, Tekin, Mustafa, Arnos, Kathleen S.
出版年 Mol Genet Genomic Med (2020)

GPSM2 Mutations in Chudley-McCullough Syndrome

著者: Diaz-Horta, Oscar, Sirmaci, Asli, Doherty, Dan, Nance, Walter, Arnos, Kathleen, Pandya, Arti, Tekin, Mustafa
出版事項 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

著者: Arnos, Kathleen S., Welch, Katherine O., Tekin, Mustafa, Norris, Virginia W., Blanton, Susan H., Pandya, Arti, Nance, Walter E.
出版事項 2008

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

著者: BLANTON, SUSAN H., NANCE, WALTER E., NORRIS, VIRGINIA W., WELCH, KATHERINE O., BURT, AMBER, PANDYA, ARTI, ARNOS, KATHLEEN S.
出版事項 2009

Vestibular Dysfunction in DFNB1 deafness

著者: 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
出版事項 2011

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

著者: 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
出版事項 2011

Locus Heterogeneity for Waardenburg Syndrome is Predictive of Clinical Subtypes

著者: 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.
出版事項 1994

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

著者: 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.
出版事項 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

著者: 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.
出版事項 1992

Loss of LDAH associated with prostate cancer and hearing loss

著者: 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
出版年 Hum Mol Genet (2018)

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

著者: 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
出版年 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

著者: 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
出版事項 2009