Search Results

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

by Haywood, Annika F.M., Merner, Nancy D., Hodgkinson, Kathy A., Houston, Jim, Syrris, Petros, Booth, Valerie, Connors, Sean, Pantazis, Antonios, Quarta, Giovanni, Elliott, Perry, McKenna, William, Young, Terry-Lynn
Published in European Heart Journal (2013)

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

by Abdelfatah, Nelly, McComiskey, David A, Doucette, Lance, Griffin, Anne, Moore, Susan J, Negrijn, Carol, Hodgkinson, Kathy A, King, Justin J, Larijani, Mani, Houston, Jim, Stanton, Susan G, Young, Terry-Lynn
Published in European Journal of Human Genetics (2013)

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

by Pater, Justin A., Benteau, Tammy, Griffin, Anne, Penney, Cindy, Stanton, Susan G., Predham, Sarah, Kielley, Bernadine, Squires, Jessica, Zhou, Jiayi, Li, Quan, Abdelfatah, Nelly, O’Rielly, Darren D., Young, Terry-Lynn
Published in Human Genetics (2016)

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

by Pater, Justin A., Benteau, Tammy, Griffin, Anne, Penney, Cindy, Stanton, Susan G., Predham, Sarah, Kielley, Bernadine, Squires, Jessica, Zhou, Jiayi, Li, Quan, Abdelfatah, Nelly, O’Rielly, Darren D., Young, Terry Lynn
Published in Human Genetics (2017)

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

by Dawson, Lesa M., Smith, Kerri N., Werdyani, Salem, Ndikumana, Robyn, Penney, Cindy, Wiede, Louisa L., Smith, Kendra L., Pater, Justin A., MacMillan, Andrée, Green, Jane, Drover, Sheila, Young, Terry‐Lynn, O’Rielly, Darren D.
Published in Molecular Genetics & Genomic Medicine (2019)

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect

by Dawson, Lesa M., Smith, Kerri N., Werdyani, Salem, Ndikumana, Robyn, Penney, Cindy, Wiede, Louisa L., Smith, Kendra L., Pater, Justin A., MacMillan, Andrée, Green, Jane, Drover, Sheila, Young, Terry‐Lynn, O’Rielly, Darren D.
Published in Molecular Genetics & Genomic Medicine (2019)

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

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
Published in European Journal of Human Genetics (2009)

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

by Ahmed, Zubair M, Cindy Li, Xiaoyan, 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
Published in BMC Medical Genetics (2004)

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

by Ahmed, Zubair M, Cindy Li, Xiaoyan, 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
Published in BMC Medical Genetics (2004)

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

by Shotland Lawrence I, Ploplis Barbara, MacLaren Linda, Dhillon Kiran, Luscombe Sandra, Ahmad Zahoor, Ramzan Khushnooda, Young Terry-Lynn, Riazuddin Saima, Powell Shontell D, Cindy Li Xiaoyan, Ahmed Zubair M, Ives Elizabeth, Riazuddin Sheikh, Friedman Thomas B, Morell Robert J, Wilcox Edward R
Published in BMC Medical Genetics (2004)

Characterization of a new full length TMPRSS3isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

by Ahmed, Zubair M, Cindy Li, Xiaoyan, 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
Published 2004

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

by Ahmed, Zubair M., Cindy Li, Xiaoyan, 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, Seikh, Friedman, Thomas B., Morell, Robert J., Wilcox, Edward R.
Published 2004

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

by Milting, Hendrik, Klauke, Bärbel, Christensen, Alex H., Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, Šarić, Tomo, Rasmussen, Thorsten Bloch, Jensen, Henrik Kjaerulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P., Connors, Sean, Hodgkinson, Kathy, Young, Terry L., van der Zwaag, Paul, van Tintelen, Peter, Anselmetti, Dario
Published 2015

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

by Milting, Hendrik, Klauke, Bärbel, Christensen, Alex Hoerby, Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, Šarić, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjærulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P., Connors, Sean, Hodgkinson, Kathy, Young, Terry-L., van der Zwaag, Paul A., van Tintelen, J. Peter, Anselmetti, Dario
Published in European Heart Journal (2015)

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

by Milting, Hendrik, Klauke, Bärbel, Christensen, Alex Hoerby, Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, X0160 Ari X0107, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjærulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, Zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P, Connors, Sean, Hodgkinson, Kathy, Young, Terry-L, van der Zwaag, Paul, van Tintelen, Peter, Anselmetti, Dario
Published in European Heart Journal (2014)

The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

by Milting, Hendrik, Klauke, Baerbel, Christensen, Alex Hoerby, Muesebeck, Joerg, Walhorn, Volker, Grannemann, Soeren, Muennich, Tamara, Saric, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjaerulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, Knyphausen, Edzard zu, Kassner, Astrid, Gummert, Jan, Judge, Daniel P., Connors, Sean, Hodgkinson, Kathy, Young, Terry-L., van der Zwaag, Paul A., van Tintelen, J. Peter, Anselmetti, Dario
Published in European Heart Journal (2015)

The TMEM 43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

by Milting, Hendrik, Klauke, Bärbel, Christensen, Alex Hoerby, Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, Šarić, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjærulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P, Connors, Sean, Hodgkinson, Kathy, Young, Terry-L, van der Zwaag, Paul A, van Tintelen, J Peter, Anselmetti, Dario
Published in European Heart Journal (2015)