Results 11 to 20 of about 244,526 (128)

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing

Journal of Clinical Laboratory Analysis, Volume 34, Issue 12, December 2020., 2020
In the present study, nine unrelated Iranian consanguineous families with at least one affected individual were tested by next‐generation sequencing (NGS) of 127 known deafness genes. In this report, one compound heterozygote and eight homozygote variants, of which five are novel, were identified: CDH23:p.(Glu1970Lys), and p.(Ala1072Asp), GIPC3:p ...
Fatemeh Bitarafan, Seyed Yousef Seyedena, Mahdi Mahmoudi, Masoud Garshasbi   +3 more
wiley   +1 more source

Programmed cell death pathways in hearing loss: A review of apoptosis, autophagy and programmed necrosis

Cell Proliferation, Volume 53, Issue 11, Novemeber 2020., 2020
The authors review accumulating evidence pointing out that programmed cell death pathways, including apoptosis, autophagy and necrosis, play key roles in ultimate fates of auditory hair cells, when cells suffer adverse factors. These three forms of PCD may jointly decide occurrence of hearing loss.
Junhao Wu, Jing Ye, Weili Kong, Shouyue Zhang, Yun Zheng   +4 more
wiley   +1 more source

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 511-519, June 2020., 2020
Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL.
Harmon Khela, Margaret A. Kenna
wiley   +1 more source

Cut loci and conjugate loci on Liouville surfaces [PDF]

, 2011
In the earlier paper (Itoh and Kiyohara, Manuscr Math 114:247–264, 2004), we showed that the cut locus of a general point on two-dimensional ellipsoid is a segment of a curvature line and proved "Jacobi’s last geometric statement" on the singularities of
Jin-ichi Itoh, Kazuyoshi Kiyohara, Kiyohara, Kazuyoshi, Itoh, Jin-ichi   +3 more
core   +1 more source

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Clinical Case Reports, Volume 6, Issue 11, Page 2111-2116, November 2018., 2018
Here, we report a novel deletion in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact. This partial deletion in the GJB2 gene highlights the need for further improvements in GJB2 screening.
Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami   +5 more
wiley   +1 more source

Multiple Loci Are Associated with White Blood Cell Phenotypes [PDF]

, 2011
White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability ...
Taylor, K, Döring, Angela, Meisinger, C. (Christa), Kushang V Patel, Fox, Caroline S., Garner Stephen F., Wichmann HE, Uitterlinden AG, Taylor Kent, Witteman, JC, Wiggins Kerri L., Reiner, AP, Lin JingPing, Andrew B. Singleton, Neil A Zakai, Biffi Alessandro, Folsom, AR, Matsuda K, Völzke Henry, Kamatani Y, H.-Erich Wichmann, Pirastu Nicola, Bandinelli, S, Longo Dan L., Eiriksdottir, Gudny, Patel, K.V. (Kushang), Glazer, NL, Toshiko Tanaka, Kamatani N, Illig Thomas, Nakamura, Y. (Yusuke), Nicole L Glazer, Uitterlinden, Andre G., Toniolo, D. (Daniela), Couper, DJ, Smith, AV, Levy D, Mangino Massimo, van Rooij Frank J. A., Tsunoda T, Thein SL, Naoyuki Kamatani, Liu, Y, Ben A. Oostra, Fox Caroline S., Fox CS, Cupples L. Adrienne, Wilson, J.G. (James), Tönjes, Anke, Biffi, A. (Alessandro), Van Duijn, CM, Boerwinkle, Eric, Nalls, Michael A., Wiggins, Kerri L., Eiriksdottir, G, Smith AV, Janine F Felix, Toshihiro Tanaka, O'Donnell, CJ, Frayling, Timothy M., Wichmann, H.E. (Heinz Erich), Gasparini, P, Moore, M. (Matt), Stefania B, Boerwinkle, E, Uitterlinden, AG, Wood, Andrew R., Illig, T. (Thomas), Lettre, Guillaume, Bis, JC, Tamara B Harris, Folsom, A.R. (Aaron), Harris, T.B. (Tamara), Gieger, C, Voelker, Uwe, Levy Daniel, Meisinger, Christa, Levy, Daniel, Wiggins, K.L. (Kerri), Chen MH, Tamara B. Harris, Toniolo, D, Ouwehand, W.H. (Willem), Kazuhiko Yamamoto, Cupples, L.A. (Adrienne), Melzer, D, Lagou, Vasiliki, Couper, David J., Cornelia M van Duijn, Matsuda Koichi, Kushang V. Patel, Felix, JF, Yamamoto, K, Wilson JG, Stephen F. Garner, Kerri L, Er Teumer, Prokopenko I, Matt Moore, van Rooij, Frank J. A., Taylor, Kent, Ferrucci, L. (Luigi), Chong, S. (Sean), Sambrook J, Gieger C, Gieger Christian, Folsom Aaron R., Chong, Sean, Wood, AR, Garcia M, Garcia, M. (Melissa), Sambrook, J.G. (Jennifer), Hofman Albert, Couper, D. (David), Dan L, Sambrook, Jennifer, Nakamura Y, Wiggins, KL, Guillaume Lettre, Tatsuhiko Tsunoda, Nauck, Matthias, Abbas Dehghan, Aaron R. Folsom, Smith, A.V. (Albert Vernon), Stumvoll Michael, Lumley T, Daniela Toniolo, Völker, U. (Uwe), Willem H. Ouwehand, Rendon, A, Santhi K Ganesh, Arepalli, S, Lettre G, Illig T, Levy, D. (Daniel), Liu Y, Soranzo, N. (Nicole), Greinacher, A, Melzer, David, Thomas Illig, Völzke, H. (Henry), Nauck M, Aravinda Chakravarti, Neil A. Zakai, Andreas Greinacher, Bandinelli, Stefania, Prokopenko, Inga, O'Donnell CJ, Lettre, G, Christopher J O'Donnell, Okada, Y, Moore, Matt, Coresh Josef, Jacqueline C M Witteman, Couper David J., Nalls, M.A. (Michael), Gieger, C. (Christian), Frayling Timothy M., Garner SF, Gudnason, V. (Vilmundur), James G. Wilson, Kuhnel B, Sampath Arepalli, Mangino, M, Yamamoto, Kazuhiko, Chen, Ming-Huei, Chen, MH, Timothy M, Yang, Qiong, Yang, Q, Zakai, Neil A., Moore, M, Frayling TM, Singleton, Andrew B., Menzel, S, Koichi Matsuda, Fox, CS, Dehghan A, Tim D Spector, Takahashi A, Yang Qiong, Ferrucci, L, Garcia Melissa, Lettre Guillaume, Patel, KV, Toenjes, Anke, Thein Swee Lay, Jonathan Stephens, Willem H Ouwehand, Harris TB, Uitterlinden, A.G. (André), Felix, Janine F., Nalls MA, Alessandro Biffi, Greinacher, Andreas, Luigi Ferrucci, O'Donnell, C.J. (Christopher), Kubo Michiaki, Tönjes, A. (Anke), Aaron R Folsom, Völzke, H, Dehghan, Abbas, H-Erich Wichmann, Hofman A, Melissa Garcia, Gudnason, V, Gouskova Natalia A., Qiong Yang, Ferrucci Luigi, Reiner AP, Arepalli, Sampath, Vasiliki Lagou, Caroline S Fox, Frayling, T.M. (Timothy), Ganesh, Santhi K., Albert V Smith, Patel, Kushang V., Tsunoda, T. (Tatsuhiko), Coresh J, Cupples, LA, Lettre, G. (Guillaume), Garner, Stephen F., Bruce M Psaty, Smith, Albert V., Reiner, Alex P., Frayling, TM, Teumer, A, Stumvoll, M. (Michael), Daniel Levy, Matthias Nauck, Takahashi, A, Frank J. A. Van Rooij, Felix, J.F. (Janine), Prokisch H, Arepalli S, Hernandez, Dena G., van Duijn, Cornelia M., Atsushi Takahashi, Zakai, N.A. (Neil), Janine F. Felix, Psaty, B.M. (Bruce), Patel Kushang V., Harris, TB, Yusuke Nakamura, Cornelia M. Van Duijn, Yoichiro Kamatani, Zakai NA, Prokopenko Inga, Gouskova, N.A. (Natalia), Witteman Jacqueline C. M., Patel KV, Felix Janine F., Wichmann H.-Erich, Tikka-Kleemola, P. (Päivi), Oostra, B.A. (Ben), Tsunoda Tatsuhiko, Joshua C Bis, Stumvoll, Michael, Tim D. Spector, Lumley, Thomas, Andre ́ G. Uitterlinden, Oostra, BA, Wilson, James G., Kuhnel, B, Hofman, Albert, Zakai Neil A., Yongmei Liu, Rendon, Augusto, Eric Boerwinkle, Teumer Alexander, Yukinori Okada, André G. Uitterlinden, Glazer, Nicole L., Illig, Thomas, Dan L. Longo, Döring, A. (Angela), Biffi A, Voelzke, Henry, Völker Uwe, van Duijn Cornelia M., Oostra Ben A., Singleton AB, Wood Andrew R., Lumley Thomas, Ouwehand Willem H., Glazer Nicole L., Soranzo Nicole, Eiriksdottir Gudny, Stefania Bandinelli, Ganesh Santhi K., van Rooij FJ, Pirastu, N, Spector, TD, David J Couper, Pistis, G, Kamatani, Y. (Yoichiro), Tanaka, T, Cupples LA, Psaty BM, Dena G. Hernandez, Wichmann, H. -Erich, Arepalli Sampath, Psaty, Bruce M., Sean Chong, Kubo, M, Taylor K, Van Rooij, FJ, Wiggins KL, David Melzer, Timothy M. Frayling, Henry Völzke, Bruce M. Psaty, O'Donnell Christopher J., Menzel, Stephan; id_orcid, L. Adrienne Cupples, Chong Sean, Thein, S.L., Lin, J., Jennifer Sambrook, Santhi K. Ganesh, Kuhnel Brigitte, Yang, Q. (Qiong Fang), Gouskova, NA, Tönjes, A, Kamatani Naoyuki, Kamatani, Naoyuki, Rendon, A. (Augusto), Witteman, Jacqueline C. M., Felix JF, Wilson James G., Okada, Yukinori, Longo DL, Tanaka Toshiko, Lin J, Bis, J.C. (Joshua), Ro Biffi, Takahashi, A. (Atsushi), Longo, Dan L., JingPing Lin, Teumer, A. (Alexander), Dehghan Abbas, Folsom, Aaron R., Prokopenko, I. (Inga), Völker U, Eiriksdottir G, Liu, Y. (YongMei), Moore Matt, Ferrucci, Luigi, Soranzo, N, Longo, D.L. (Dan), Dehghan, A, Jacqueline C. M. Witteman, Caroline S. Fox, Spector, Tim D., Michael Stumvoll, Lumley, T, Wood, A.R. (Andrew), Bis JC, Witteman JC, Arepalli, S. (Sampath), Sambrook, J, Döring Angela, Biffi, A, Sambrook Jennifer, Albert V. Smith, Frank J A van Rooij, Inga Prokopenko, Menzel, Stephan, Folsom AR, Hernandez, D.G. (Dena), Stumvoll, M, Hernandez DG, Anke Tönjes, Bis Joshua C., Dena G. Hern, Kerri L. Wiggins, Timothy M Frayling, Pistis, G. (Giorgio), Tanaka Toshihiro, Vilmundur Gudnason, Meisinger, C, Doering, Angela, Nicola Pirastu, Tsunoda, Tatsuhiko, Völker, Uwe, Singleton Andrew B., O'Donnell, Christopher J., Eiriksdottir, G. (Gudny), Thein, Swee Lay, Meisinger C, Zakai, NA, van Duijn CM, Kamatani Yoichiro, Lagou V, Menzel S, Natalia A Gouskova, Coresh, J. (Josef), Kent Taylor, Prokisch, Holger, Menzel, S. (Stephan), Rendon Augusto, Mangino, Massimo, Christopher J. O’donnell, Völzke, Henry, Kamatani, N, Wichmann, HE, Coresh, Josef, Völker, U, Lin, JingPing, Kamatani, Y, Hernandez, DG, Stephens, J. (Jonathan), Alex P. Reiner, Nakamura Yusuke, Mangino M, Stephens, Jonathan, Levy, D, Boerwinkle, E.A. (Eric), Okada Yukinori, Kerri L Wiggins, Stephan Menzel, Bis, Joshua C., Tanaka, T. (Toshiko), Alex P Reiner, Tsunoda, T, Massimo Mangino, Chakravarti Aravinda, Lin, J, Thomas Lumley, Teumer, Alexander, Chakravarti, A. (Aravinda), Brigitte Kuhnel, Fox, C.S. (Caroline), Ouwehand, WH, Harris, Tamara B., Moore M, Michael A. Nalls, Stephens Jonathan, Nicole L. Glazer, Gouskova NA, Pistis, Giorgio, Illig, T, David J. Couper, Bandinelli, S. (Stefania), Stephen F Garner, Spector Tim D., Ming-Huei Chen, Toniolo, Daniela, Cupples, L. Adrienne, Gudnason V, Toniolo Daniela, Nauck Matthias, Nauck, M, Gudnason, Vilmundur, Thein, SL, Kuhnel, Brigitte, Prokopenko, I, Giorgio Pistis, Kubo, Michiaki, Melzer D, Nakamura, Yusuke, Prokisch Holger, Smith Albert V., Yamamoto Kazuhiko, Longo, DL, Ben A Oostra, Garner, SF, Liu, Yongmei, Garcia, Melissa, Christopher J. O'Donnell, Menzel Stephan, Völzke H, Gasparini, Paolo, Reiner, A.P. (Alex), Singleton, A. (Andrew), Gudnason Vilmundur, Greinacher A, Spector, T.D. (Timothy), Matsuda, Koichi, Nakamura, Y, Chen Ming-Huei, Dehghan, A. (Abbas), Stephens, J, Soranzo, Nicole, Chakravarti, A, Andrew R Wood, Boerwinkle Eric, Chong S, Hofman, A. (Albert), Dena G Hernandez, Melzer David, Biffi, Alessandro, Albert Hofman, Matsuda, K. (Koichi), Kuhnel, B. (Brigitte), Nalls, MA, Harris Tamara B., Andrew R. Wood, Prokisch, H. (Holger), Tönjes Anke, Uitterlinden André G., Pirastu, N. (Nicola), André G Uitterlinden, Melzer, D. (David), Rooij, F.J.A. (Frank) van, Meisinger Christa, Tanaka T, Greinacher, A. (Andreas), Ouwehand WH, Natalia A. Gouskova, Ganesh, S.K. (Santhi), Gieger, Christian, Kubo M, Josef Coresh, Rendon A, Ganesh SK, Nicole Soranzo, Coresh, J, Mangino, M. (Massimo), Michael A Nalls, Glazer, N.L. (Nicole), Döring A, Teumer A, Liu Yongmei, Tanaka, Toshihiro, Nalls Michael A., Chakravarti, Aravinda, Wichmann, Heinz-Erich, Toniolo D, Alexander Teumer, Nauck, M. (Matthias), Stephens J, Kubo, M. (Michiaki), Oostra, Ben A., Boerwinkle E, Christian Gieger, Kamatani, Yoichiro, Stumvoll M, Psaty, BM, Takahashi, Atsushi, Bandinelli Stefania, Wood AR, Pistis G, Spector TD, Ferrucci L, Matsuda, K, Augusto Rendon, Hernandez Dena G., Lagou Vasiliki, Oostra BA, Lagou, V, Tanaka, Toshiko, Yamamoto K, Chong, S, Willem H, Paolo Gasparini, Dan L Longo, Yamamoto, K. (Kazuhiko), Tönjes A, Andrew B Singleton, Taylor, K.D. (Kent), O'Donnell, Christopher J., Swee Lay Thein, Couper DJ, Joshua C. Bis, Hofman, A, Wilson, JG, Gasparini Paolo, Reiner Alex P., Lumley, T. (Thomas), Yang Q, Angela Döring, Singleton, AB, Gasparini, P. (Paolo), Okada, Y. (Yukinori), Garcia, M, Psaty Bruce M., Takahashi Atsushi, Bandinelli S, Döring, A, Christa Meisinger, Lagou, V. (Vasiliki), Witteman, J.C.M. (Jacqueline), Pistis Giorgio, Pirastu, Nicola, James G Wilson, Greinacher Andreas, Soranzo N, Chen, M-H. (Ming-Huei), Chakravarti A, Prokisch, H, Uwe Völker, H. -erich Wichmann, Garner, S.F. (Stephen), Gudny Eiriksdottir, Okada Y, Aaron R, L Adrienne Cupples, Gouskova, Natalia A., Glazer NL, Ganesh, SK, Ouwehand, Willem H., Holger Prokisch, Michiaki Kubo, Chen, Ming Huei, Uitterlinden, André G.; id_orcid, van Rooij, Frank J.A.; id_orcid   +606 more
core   +1 more source

Biological, clinical and population relevance of 95 loci for blood lipids [PDF]

, 2010
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic ...
J. Sinisalo, Döring, Angela, Boehnke, M., N. G. Martin, Silander, K, Ridker, P.M., P. Elliott, Lamina, C., Assimes, Themistocles L., L. L. Bonnycastle, Ingelsson, E., Kastelein, JJP, Ingelsson, E,, N. J. Wareham, Teslovich, T.M., Ejebe, K.G., Sanna, Serena, Hall, A.S. (Alistair), McCarthy, Mark I, Boerwinkle, E., Teslovich, Tanya M., Parker, A.N., Surakka, I., L. M. Rose, Hicks, Andrew A, Boekholdt, S Matthijs, James P. Pirruccello, Hengstenberg, Christian, Mangino, M., Ruokonen, A., Bandinelli, S, Toshiko Tanaka, Shin Cho, Y. (Yoon), Kim, Young Jin, A. S. Hall, Bonnycastle, LL, Sanna, S., Peloso, Gina M, Elena Gonzalez, Silander, K., Rose, LM, Uitterlinden, Andre G., Smith, AV, C. Hengstenberg, Shin Cho, Y., Kaprio, Jaakko, T. Y. Wong, Edmondson, Andrew C., Jin Kim, Y. (Young), Pare, G. (Guillaume), Go, MJ, Y. d. I, Kastelein, J.J.P. (John), Hastie, Nicholas D, Orho-Melander, M. (Marju), Rick Twee-Hee Ong, Johansen, C.T. (Christopher), Loos, Ruth J F, Kronenberg, F. (Florian), T. Tanaka, S. Kathiresan, Kim, K., Stefansson, K, Whitfield, JB, Willemsen, G.A.H.M. (Gonneke), Tai, E.S., O'Donnell, CJ, Johansson, Asa, Wichmann, H.E. (Heinz Erich), Altshuler, D., Shin Cho, Yoon, Seielstad, M, Kronenberg, Florian, Johansen, C.T., Zee, RYL, Montgomery, G.W., Rose, Lynda M, Hofman, A., Roberts, Robert, Igl, W., Harris, T.B. (Tamara), Haritunians, T. (Talin), Smith, Albert V, Jin Kim, Y, Launer, Lenore J, Ziegler, A, Quertermous, T., Waterworth, D. (Dawn), Seielstad, Mark, Smit, J.H., Jarvelin, Marjo-Riitta, Li, Mingyao, Munroe, PB, de Geus, E.J., Cupples, L.A. (Adrienne), C. T. Johansen, Voight, Benjamin F., J. S. Kooner, Mary F. Feitosa, Sijbrands, E.J.G.; id_orcid, Rose, L.M. (Lynda), de Geus, Eco J C, Kastelein, John JP, König, I.R. (Inke), Kirsten O. Kyvik, Gabriel, S.B., Bergman, R.N., Stacey B. Gabriel, Gonzalez, E, Gyllensten, Ulf,, Strachan, David P., Hall, AS, Salomaa, Veikko, Wilson, James G.; id_orcid, Bergman, Richard N., M. J. Caulfield, Markku S. Nieminen, Collins, Francis S, Tai, E.-Shyong, Wendy McArdle, Groop, L.C., Johnson, T, Ong, RTH, Ingelsson, Erik, Penninx, B.W.J.H., Rudan, I. (Igor), Freimer, N.B. (Nelson), X. Sim, Lori L. Bonnycastle, Edmondson, A.C., G. M. Peloso, Guillaume Lettre, O’Donnell, Christopher J., Uitterlinden, Andre G, Kiran Musunuru, K. Kim, de Geus, EJ, Smith, A.V. (Albert Vernon), D. C. Croteau Chonka, McCarthy, MI, Benjamin F. Voight, Kuzawa, Christopher W, Gyllensten, U., Pramstaller, P.P. (Peter Paul), Janssens, A.C., Zhang, W., Schlessinger, D. (David), Stylianou, IM, Burtt, Noel P., M. Li, Reilly, Muredach P., Vitart, Veronique, Crawford, G., Kaplan, L.M., Ruokonen, A. (Aimo), Johansson, Åsa,, Waterworth, Dawn M., Taylor Jr, Herman A., Park, Taesung, Stringham, Heather M., Martin, Nicholas G, Launer, L.J., Scuteri, Angelo, A. Johansson, Cupples, L.A., Lucas, Gavin, Edmondson, A.C. (Andrew), C. Langenberg, Lettre, G, Yurii S. Aulchenko, Chasman, Daniel I., A. B. Feranil, Christian Hengstenberg, Wright, A.F., Caulfield, M.J., Dominiczak, Anna F, Hastie, Nicholas D., Kooner, J.S., Magnusson, Patrik KE, Schunkert, H, Cho, YS, Jaakko Tuomilehto, Gieger, C. (Christian), Hegele, Robert A, Thompson, JR, U. Gyllensten, James G. Wilson, Sinisalo, J., Nickerson, D.A., Sijbrands, Eric JG, Sijbrands, EJG, Igi, Wilmar, Nicholas G. Martin, Wareham, N.J., Sabatti, Chiara, A. F. Wright, Christie M. Ballantyne, Mangino, M, Ulf Gyllensten, de Faire, Ulf, Kooner, Jaspal S, Li, XH, Peter P. Pramstaller, Saharinen, J, Sandhu, M.S. (Manjinder), M. S. Sandhu, Yuan, X., Erdmann, Jeanette, I. M. Heid, Nicholas J. Wareham, R. T. Ong, B. A. Oostra, Loos, Ruth J. F., Stringham, H.M. (Heather), Pare, G, Rader, D.J. (Daniel), Pedersen, Nancy L., Peloso, G.M. (Gina), Johannes H. Smit, Ida Surakka, Schadt, E.E., Duijn, C.M. van, Pedersen, Nancy L, M. Mangino, Loos, RJF, Hicks, Andrew A., Munroe, Patricia B., Havulinna, A.S. (Aki), Collins, F.S., Whitfield, J. (John), Scott, J, A. V. Smith, H. A. Taylor, Wilson, James F, Wilson, James G, L. Ferrucci, J. M. Ordovas, O'Donnell, C.J. (Christopher), Quertermous, Thomas, M. F. Feitosa, Gyllensten, Ulf, D. P. Strachan, Parker, AN, Ballantyne, C.M., Stringham, He.M., Ripatti, S., S. Bandinelli, Pedersen, N.L. (Nancy), Perola, Markus, Cristian Pattaro, Holm, Hilma, de Faire, U., Waterworth, DM, de Geus, EJC, Ruokonen, Aimo, Hottenga, JJ (Jouke Jan), Groop, Leif C, Erdmann, J, Alex N. Parker, Wright, AF, Aulchenko, Y.S., Hottenga, J.J., Musunuru, K., Lange, Leslie A., L. A. Lange, Toby Johnson, Twee-Hee Ong, R., Iris M. Heid, Kooner, J.S. (Jaspal), Cornelia M. van Duijn, Hicks, A.A., Musunuru, K, Smit, Johannes H, Sijbrands, EJ, Marroni, F. (Fabio), Feitosa, Mary F, Nancy L. Pedersen, Hua Zhao, Jing, Kim, Kyunga, Tai, E.-S., Bergman, RN, Waterworth, Dawn M, Hovingh, G Kees, Melander, O, Thorsteinsdottir, U, R. A. Hegele, Wilson, James; id_orcid, Jarvelin, MR, Ziegler, Andreas, A. Scuteri, Wright, A.F. (Alan), Jin Go, Min, Jing Hua Zhao, Igi, Wilmar,, Salomaa, V. (Veikko), van Duijn, Cornelia M., Hegele, R.A. (Robert), McArdle, W.L. (Wendy), Melander, O. (Olle), B. F. Voight, Vitart, V. (Veronique), Thorsteinsdottir, U. (Unnur), Luan, J., Rotter, J.I., Jarvelin, M.-R., Groop, L. (Leif), Lakatta, Edward G., Psaty, B.M. (Bruce), Gavin Lucas, Orho-Melander, Marju,, G. Kees Hovingh, Rudan, I., Groop, LC, A. S. Havulinna, Ejebe, KG, R. Laaksonen, U. d. Faire, Barroso, Ines, R. Roberts, Gabriel, Stacey B., Tim D. Spector, Collins, FS, Wilson, James F., Kathiresan, S. (Sekar), Kastelein, John J. P., Ruokonen, A, Wilson, James G., Stylianou, I.M., Gonzalez, E., Jin Kim, Young, Zhao, JH, Alan R. Tall, Oostra, Ben A, Kees Hovingh, G, Schlessinger, David, Pramstaller, PP, Lange, Leslie A, Döring, A. (Angela), Ingelsson, E, Vollenweider, P, J. C. M, Igl, W, Wilmar Igl, Janssens, A Cecile JW, Orho-Melander, M, Jaspal S. Kooner, Yuan, Xin, Ordovas, JM, Thomas Meitinger, Sijbrands, Eric J. G., Lamina, Claudia, Barroso, I.E. (Inês), Elliott, P., Li, X., N. L. Pedersen, Dawn M. Waterworth, R. J. F, Kuzawa, CW, Gonzalez, E. (Elena), L. A. Cupples, Kuzawa, Christopher W., N. D. Hastie, Claudia Lamina, Robert Y. L. Zee, Demissie, Serkalem, Luan, JA, McCarthy, M.I. (Mark), P. K. E, Altshuler, David, Aimo Ruokonen, Tanaka, T, Kim, YJ, Marjo-Riitta Jarvelin, Aulchenko, Y.S. (Yurii), C. Gieger, Francis S. Collins, Luan, Jian'an, M. S. Nieminen, Psaty, Bruce M., Stringham, Heather M, K. G. Ejebe, Kyunga Kim, Hegele, RA, Joshua D. Smith, Caulfield, Mark J., Tuomilehto, J., J. F. Wilson, Feitosa, MF, Gyllensten, U, U. Thorsteinsdottir, Taylor, Herman A, Munroe, Patricia B, John Chambers, D. J. Rader, L. Adrienne Cupples, I. R. König, Sandhu, Manjinder S., Robert Roberts, K. Musunuru, Deloukas, P, Guiducci, Candace, Laaksonen, R. (Reijo), J. I. Rotter, Ejebe, K.G. (Kenechi), G. R. Abecasis, Andrew A. Hicks, Luben, R.N. (Robert), Ordovas, J.M. (Jose), Bis, Joshua C, Andre G. Uitterlinden, Pirruccello, J.P., Crawford, G. (Gabe), Song, K. (Kijoung), D. Masson, Serena Sanna, Stylianou, Ioannis M, Doering, A, Lokki, ML, Lakatta, EG, Heid, I.M. (Iris), Salomaa, V., Bis, J.C. (Joshua), Smith, Joshua D, Uda, M, Magnusson, Patrik K. E., Chasman, D.I. (Daniel), Ejebe, Kenechi G., E. Ingelsson, Mohlke, K.L., Hall, Alistair S., Guiducci, C, Campbell, Harry, Panagiotis Deloukas, Barbalic, M., Song, K, Laaksonen, Reijo, Fouchier, S.W., Vollenweider, P., Lettre, G., Waeber, G. (Gérard), de Geus, Eco JC, Linda S. Adair, Chambers, John, Y. S. Aulchenko, P. P. Pramstaller, Voight, Benjamin F, Scott, J., Collins, F.S. (Francis), Guo, X., Xin Yuan, C. M. van, Leena Peltonen, Magnusson, Patrik K E, Feitosa, M.F. (Mary Furlan), Rotter, J.I. (Jerome), Zee, Robert YL, L. S. Adair, Meitinger, T., Jacqueline C. M. Witteman, Penninx, BW, Jeanette Erdmann, Kari Stefansson, Kaprio, J., Åsa Johansson, Masson, D., Scott, J. (James), Lange, LA, Khaw, KT, Hottenga, J.J. (Jouke Jan), Albert V. Smith, Smith, A.V., Paul M Ridker, Gonçalo R. Abecasis, Mohlke, K.L. (Karen), Ripatti, S, Groop, Leif C., Hengstenberg, C, David P. Strachan, Burtt, N.P., Wilson, J.G., Erdmann, J. (Jeanette), Wareham, Nicholas J, Chasman, DI, Döring, A., Alan B. Feranil, Barroso, I., Boekholdt, S. Matthijs, Xiaohui Li, Nicholas D. Hastie, Vilmundur Gudnason, Doering, Angela, Cristen J. Willer, Thompson, J.R., Schadt, E.E. (Eric), Heid, Iris M, Li, M., Hegele, R.A., Pedersen, N.L., Bis, J.C., Wilson, J.F., Yii-der I. Chen, Guiducci, C. (Candace), D. Schlessinger, Samani, N.J., Kaplan, LM, G. Thorleifsson, Kathiresan, S, Rader, Daniel J., Jarvelin, M.-R. (Marjo-Riitta), Herman A. Taylor Jr, Pedersen, NL, T. Johnson, J. Hottenga, Saharinen, J. (Juha), Penninx, Brenda W. J. H., Willer, C.J. (Cristen), Li, MY, Wong, Tien Y, Soranzo, N., Peltonen, Leena, Dominiczak, A.F., Adair, LS, Waeber, G., Li, M, Boehnke, Michael, Rieder, M. (Mark), Perola, M. (Markus), Lenore J. Launer, Campbell, H., Wichmann, HE, Scott, James, Freimer, N.B., Isaacs, A., Heather M. Stringham, Luben, R, Pirruccello, JP, Pichler, Irene, Mark I. McCarthy, Alistair S. Hall, Silander, Kaisa, Y. J. Kim, Smit, Johannes H., Masson, D. (David), Boerwinkle, E.A. (Eric), Thompson, J.R. (John), Hovingh, G. Kees, Kaprio, J, Marroni, F, Pattaro, C., Bis, Joshua C., Kaprio, J. (Jaakko), Tanaka, T. (Toshiko), Peloso, G.M., Candace Guiducci, Tall, A.R. (Alan), Feranil, Al.B., Dominiczak, Anna F., Magnusson, P.K. (Patrik), Pattaro, Cristian, C. Hayward, Li, X, Young Jin Kim, J. Erdmann, Pattaro, C, C. Guiducci, Guo, X. (Xiuqing), David Schlessinger, Abecasis, Gonçalo R, Bandinelli, S. (Stefania), Hottenga, JJ, Cupples, L Adrienne, Hilma Holm, Saharinen, Juha, Aulchenko, Yurii S., Cupples, L. Adrienne, Kastelein, J.J.P., Pirruccello, J.P. (James), E. J. C, Veikko Salomaa, Lakatta, Edward G, de Geus, E.J.C., H. M. Stringham, J. Scott, Dorret I. Boomsma, Willemsen, G.; id_orcid, Khaw, Kay-Tee, Montgomery, Grant W, Sijbrands, E.J.G. (Eric), Zee, Robert Y L, J. J. P, Holm, H, Kastelein, John J.P., Roberts, R., Teslovich, TM, Stefansson, Kari, Peltonen, L. (Leena Johanna), M. Seielstad, Sekar Kathiresan, Samani, Nilesh J, V. Mooser, Rose, L.M., Spector, T.D. (Timothy), Kaisa Silander, Smith, Joshua D., Boomsma, Dorret I., Lange, L.A. (Leslie), Melander, O., Vollenweider, Peter, A. G. Uitterlinden, I. Surakka, Wong, T.Y., G. K. Hovingh, Soranzo, Nicole, A. C. J, Hayward, Caroline, Hofman, A. (Albert), Zhao, J.H. (Jing Hua), Albert Hofman, H. Wichmann, Voight, B.F., Elliott, P, Voight, B.F. (Benjamin), Igl, Wilmar, Ordovas, Jose M, B. W. J, Kaplan, Lee M, Willer, Cristen J, Gieger, Christian, König, Inke R., Geus, E.J.C. (Eco) de, Patrik K. E. Magnusson, Tanya M. Teslovich, Sim, X., Johansson, Å., Caulfield, MJ, Dominiczak, AF, Stylianou, Ioannis M., Brenda W. J. H. Penninx, Bonnycastle, L.L., Gabriel Crawford, Haritunians, T., I. Barroso, Gabriel, S.B. (Stacey), Loos, RJ, Kooner, Jaspal S., Jin Go, M. (Min), C. M. Ballantyne, Kooner, JS, Lamina, C, Hicks, AA, Roberts, R. (Robert), Krauss, Ronald M, Thorleifsson, Gudmar, J. B. Whitfield, H. Schunkert, Pirruccello, James P., Orho-Melander, M., Lakatta, E.G., Janssens, A. Cecile J. W., Oostra, B.A., Luan, J, Christian Gieger, Krauss, R.M. (Ronald), Cecile, A. (A.), S. B. Gabriel, Heribert Schunkert, Magnusson, P.K.E., Nickerson, Deborah A, Aki S. Havulinna, Bergman, Richard N, Hayward, C. (Caroline), Oostra, Ben, Chen, YD, Ingrid B. Borecki, P. B. Munroe, Lynda M. Rose, Daniel J. Rader, Song, Kijoung, Michael Boehnke, Hottenga, Jouke-Jan, Schunkert, Heribert, Spector, T.D., Sijbrands, E.J., Loos, R.J.F., Hall, Alistair S, Lange, L.A., Isaacs, Aaron, Christopher W. Kuzawa, G. W. Montgomery, Haritunians, T, Wilson, JG, Kathiresan, Sekar, Wilson, JF, Waeber, G, Masahiro Koseki, D. Altshuler, Tai, E-Shyong, Aulchenko, Yurii S, D. A. Nickerson, Markus Perola, Loos, R.J., G. Willemsen, Perola, M., Inke R. König, Penninx, B.W.J.H. (Brenda), Zee, R.Y., de Geus, Eco J. C., Ballantyne, CM, Holm, H., Lamina, C. (Claudia), X. Li, Sanna, S. (Serena), Tien Y. Wong, I. B. Borecki, Chasman, D.I., J. Saharinen, A. Ruokonen, Karen L. Mohlke, Sandhu, M.S., Musunuru, Kiran, Borecki, I.B., Adair, Linda S, Johnson, T. (Toby), Wilson, J.F. (James), Fouchier, Sigrid W, Wong, TY, Meitinger, T. (Thomas), Dominiczak, A. (Anna), Kenechi G. Ejebe, Ripatti, Samuli, McPherson, R., Deloukas, P. (Panagiotis), E. J. G, Y. S. Cho, Masson, David, Lucas, G., Langenberg, C. (Claudia), Chen, Yii-der I., Lee, JY, Tuomilehto, Jaakko, Ridker, Paul M., A. Isaacs, Ioannis M. Stylianou, Ricketts, S.L., Kronenberg, F, Ulf de Faire, Uda, M., Laaksonen, R, Samani, NJ, Freimer, Nelson B, Witteman, JC, Ballantyne, C. (Christie), Wong, Tien Y., V. Gudnason, Demissie, S, Harris, Tamara B, M. Koseki, X. Guo, Kathiresan, S., Mark Rieder, Montgomery, G.W. (Grant), Kijoung Song, Hegele, Robert A., Jin Kim, Y., D. M. Waterworth, Kyvik, KO, Campbell, H. (Harry), Taylor Jr., H.A., Caulfield, M. (Mark), L. J. Launer, Sandhu, MS, Boehnke, M, Ruth J. F. Loos, Sanna, S, H.-Erich Wichmann, Wichmann, H.-E., Elliott, Paul, Hua Zhao, J., Freimer, NB, Johansen, Christopher T., J. Lee, Peltonen, L, M. Lokki, Wright, Alan, Borecki, IB, König, Inke R, Hottenga, J.-J., Langenberg, C, Yuan, X. (Xin), Taylor, Herman A., Jr., Melander, Olle,, Borecki, Ingrid B., Peter Vollenweider, Ziegler, A., Assimes, T.L. (Themistocles), T. M. Teslovich, Yoon Shin Cho, Ben A. Oostra, J. D. Smith, E. E. Schadt, Manuela Uda, Serkalem Demissie, Stylianou, I.M. (Ioannis), Thorleifsson, G. (Gudmar), Gonzalez, Elena, Boerwinkle, Eric, Schadt, EE, Ejebe, Kenechi G, Parker, A.N. (Alex), Koseki, M. (Masahiro), Christopher T. Johansen, Wichmann, H.E., Zee, R.Y.L., Heid, I.M., Zhang, W, Boerwinkle, E, Mooser, Vincent, Uitterlinden, AG, Bis, JC, Lettre, Guillaume, Bandinelli, S., Krauss, Ronald M., Nickerson, D.A. (Deborah), Taylor, HA, Manjinder S. Sandhu, Gieger, C, Gabriel, Stacey B, Kuzawa, C.W., Tai, ES, Laaksonen, R., Min Jin Go, Gérard Waeber, Tamara B. Harris, Cecile J. W. Janssens, A., Khaw, K-T. (Kay-Tee), Surakka, Ida, Wichmann, H-Erich, M. Barbalic, Twee-Hee Ong, Rick, Xueling Sim, Unnur Thorsteinsdottir, Nelson B. Freimer, Croteau-Chonka, Damien C, Wright, Alan F, Schlessinger, D., Twee-Hee Ong, R. (Rick), Robert Luben, Guillaume Pare, Silander, K. (Kaisa), Damien C. Croteau-Chonka, H. Campbell, Mark J. Caulfield, Croteau-Chonka, DC, van Duijn, CM, Lee, J.Y., Jerome I. Rotter, Fouchier, Sigrid W., Schadt, Eric E., Kyvik, Kirsten O; id_orcid, F. S. Collins, K. L. Mohlke, Havulinna, Aki S., Marju Orho-Melander, Campbell, Harry; id_orcid, I. Rudan, Freimer, Nelson B., Jarvelin, M.R., Ferrucci, L. (Luigi), Chasman, Daniel I, A. Cecile J. W. Janssens, Havulinna, A.S., Nieminen, MS, Martin, NG, A. F. Dominiczak, Pirruccello, James P, Johnson, T., Munroe, P. (Patricia), Salomaa, V, Zhao, Jing Hua, Sabatti, C. (Chiara), Jose M. Ordovas, Florian Kronenberg, C. Lamina, Perola, M, Zwart, J-A. (John-Anker), Duijn, Cornelia, Marroni, Fabio, Witteman, Jacqueline C M, Kaplan, Lee M., Ronald M. Krauss, Borecki, Ingrid B, Croteau-Chonka, D.C., Rieder, M., Altshuler, D. (David), Ordovas, J.M., Soranzo, N. (Nicole), Eco J. C. de Geus, Kaplan, R.C. (Robert), Magnusson, PK, S. W. Fouchier, Mark Seielstad, Uda, Manuela, Guo, Xiuqing, Bandinelli, Stefania, X. Yuan, Krauss, RM, Parker, Alex N., K. Khaw, Sigrid W. Fouchier, Jian’an Luan, Pichler, I, Teslovich, Tanya M, A. N. Parker, Launer, Lenore J., Chambers, J. (John), Daniel I. Chasman, Loos, R.J.F. (Ruth), Ballantyne, Christie M, Kronenberg, F., Wareham, N.J. (Nick), Adair, L.S., Nieminen, Markku S, Igi, W, Marja-Liisa Lokki, Koenig, Inke R., M. J. Go, Scuteri, A., Gudnason, V. (Vilmundur), Abecasis, G.R., Luan, Jian’an, Boekholdt, S.M., Hengstenberg, C. (Christian), Schunkert, H., W. Igl, Reilly, M.P. (Muredach), Rotter, Jerome I, Tuomilehto, J. (Jaakko), Alan F. Wright, Claudia Langenberg, Thompson, John R, Whitfield, John B, Penninx, BWJH, McPherson, R. (Ruth), Stringham, H.M., Andreas Ziegler, Fouchier, SW, Vincent Mooser, Thompson, John R., Janssens, Cecile, N. J. Samani, J. H. Zhao, Lokki, Marja-Liisa, Lee, J.-Y., Themistocles L. Assimes, Erdmann, J., Ferrucci, L, Rader, Daniel J, Kyvik, K.O. (Kirsten Ohm), van Duijn, C.M., A. A. Hicks, Parker, Alex N, J. Chambers, Uitterlinden, A.G. (André), Penninx, Brenda WJH, Peloso, Gina M., S. M. Boekholdt, Lund University., Peloso, GM, Lee, J.Y. (Jong Young), Ridker, PM, R. Luben, Lucas, G. (Gavin), Luigi Ferrucci, N. Soranzo, McPherson, R, Paul Elliott, Kaplan, L. M., Reilly, MP, John B. Whitfield, Willer, C.J., G. Waeber, Gudnason, V, Deloukas, P., J. G. Wilson, Yuan, X, E. G. Lakatta, Mooser, V. (Vincent), Jin Go, M., Isaacs, A.J. (Aaron), Li, Xiaohui, Ordovas, Jose M., Muredach P. Reilly, J. P. Pirruccello, Zee, Robert Y. L., Haritunians, Talin, Robert A. Hegele, Edmondson, AC, Cupples, LA, A. C. Edmondson, James Scott   +999 more
core   +1 more source

Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities

BioMed Research International, Volume 2014, Issue 1, 2014., 2014
The epidemiological researches show that the mutations of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes have played an important role in the hearing loss. This study aims to investigate the mutation spectrum of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes of Han Chinese, Hui people, and Uyghur ethnicities in sensorineural hearing loss (SNHL ...
Wan Du, Qiuju Wang, Yiming Zhu, Yanli Wang, Yufen Guo, Jareen Meinzen-Derr   +5 more
wiley   +1 more source

Contribution of GJB2 mutations and Four common DFNB loci in autosomal recessive non-syndromic hearing impairment in Markazi and Qom provinces of Iran [PDF]

, 2009
This study aimed to investigate the contribution of four common DFNB ("DFN" for deafness and "B" for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran.
Sanati, Mohammad Hossein., Ataei, Mitra., Mahmoudian, Saeid., Alasti, Fatemeh., Hashemzadeh-Chaleshtori, Morteza., Sadeghi, Abdolrahim.   +5 more
core   +1 more source

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

BioMed Research International, Volume 2011, Issue 1, 2011., 2011
Nonsyndromic hearing loss is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Mutations of BSND have been shown to cause Bartter syndrome type IV, characterized by significant renal abnormalities and deafness and nonsyndromic nearing loss. We studied a Pakistani consanguineous family.
Hina Iqbal, Tayyba Sarfaraz, Farida Anjum, Zubair Anwar, Asif Mir, Susan Blanton   +5 more
wiley   +1 more source