Search Results - Kathryn Friend

  • Showing 1 - 19 results of 19
Refine Results
  1. 1
    Common chromosomal fragile site FRA16D mutation in cancer cells

    Common chromosomal fragile site FRA16D mutation in cancer cells by Merran Finnis, Sonia Dayan, Lynne Hobson, Georgia Chenevix‐Trench, Kathryn Friend, Karin Ried, Deon J. Venter, Erica Woollatt, Elizabeth Baker, Robert I. Richards

    Published 2005
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  2. 2
    Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

    Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease by David Ravine, Sue Forrest, L. J. Sheffield, D. M. Danks, Rowan G. Walker, P Kincaid-Smith, Robert N. Gibson, Robert I. Richards, Kathryn Friend

    Published 1992
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

    Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations by Michael Field, Ingrid E. Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie C. Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron A.G. Willis‐Owen, Jozef Gécz

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

    CCDC22: a novel candidate gene for syndromic X-linked intellectual disability by Irina Voineagu, Lingli Huang, Kellen D. Winden, María T. Lázaro, Eric Haan, John W. Nelson, Julie McGaughran, Lam Son Nguyen, Kathryn Friend, Anna Hackett, Michael Field, Jozef Gécz, Daniel H. Geschwind

    Published 2011
    Get full text
    Carta
    Save to List
    Saved in:
  5. 5
    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

    Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability by Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, María‐Isabel Tejada, Jozef Gécz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend, Zaamin B. Hussain, Anna Hackett, Michael Field, Alessandra Renieri, Roger E. Stevenson, Charles E. Schwartz, James Floyd, Jamie Bentham, Catherine Cosgrove, Bernard Keavney, Shoumo Bhattacharya, Matthew E. Hurles, F. Lucy Raymond

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

    Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia by Lyndal Henden, Liam G. Fearnley, Natalie Grima, Emily P. McCann, Carol Dobson‐Stone, Lauren Fitzpatrick, Kathryn Friend, Lynne Hobson, Sandrine Chan Moi Fat, Dominic B. Rowe, Susan D’Silva, John B. Kwok, Glenda M. Halliday, Matthew C. Kiernan, Srestha Mazumder, Hannah C. Timmins, Margaret Zoing, Roger Pamphlett, Lorel Adams, Melanie Bahlo, Ian P. Blair, Kelly L. Williams

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

    Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia by Christopher N Hahn, Chan‐Eng Chong, Catherine Carmichael, Ella Wilkins, Peter J Brautigan, Xiaochun Li, Milena Babic, Ming Lin, Amandine Carmagnac, Young Kyung Lee, Chung Hoow Kok, Lucia Gagliardi, Kathryn Friend, Paul G. Ekert, Carolyn M Butcher, Anna Brown, Ian D. Lewis, L.B. To, Andrew E. Timms, Jan Storek, Sarah Moore, Meryl Altree, Robert Escher, Peter Bardy, Graeme Suthers, Richard J. D’Andrea, Marshall S. Horwitz, Hamish S. Scott

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Epilepsy and mental retardation limited to females: an under-recognized disorder

    Epilepsy and mental retardation limited to females: an under-recognized disorder by Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens, Marta A. Bayly, Kathryn Friend, Bree Hodgson, Linda Burrows, Marie Shaw, Wei Chen, Reinhard Ullmann, Hans‐Hilger Ropers, Pierre Szepetowski, Eric Haan, Aziz Mazarib, Zaid Afawi, Miriam Y. Neufeld, P. Ian Andrews, Geoffrey Wallace, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Christopher P. Derry, Amos D. Korczyn, Jozef Gécz, John C. Mulley, Samuel F. Berkovic

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

    Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study by Ghayda Mirzaa, Valerio Conti, Andrew E. Timms, Christopher D. Smyser, Sarah Ahmed, Melissa Carter, Sarah Barnett, Robert B. Hufnagel, Amy Goldstein, Yoko Narumi‐Kishimoto, Carissa Olds, Sarah Collins, Kathreen Johnston, Jean‐François Deleuze, Patrick Nitschké, Kathryn Friend, Catharine Harris, Allison L. Goetsch, Beth Martin, Evan A. Boyle, Elena Parrini, Davide Mei, Lorenzo Tattini, Anne Slavotinek, Ed Blair, Christopher Barnett, Jay Shendure, Jamel Chelly, William B. Dobyns, Renzo Guerrini

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

    THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability by Raman Kumar, Mark Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gécz

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains by Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

    Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly by Michael Field, Patrick Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens, Calli Tofts, Jon W. Teague, Adam P. Butler, Ed Dicks, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Katy Hills, Andy Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Richard Wooster, Jenny Moon, Ying Luo, Helen E. Hughes, Marie Shaw, Kathryn Friend, Mark Corbett, Gillian Turner, M. W. Partington, John C. Mulley, Martin Bobrow, Charles E. Schwartz, Roger E. Stevenson, Jozef Gécz, Michael R. Stratton, P. Andrew Futreal, F. Lucy Raymond

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Refining analyses of copy number variation identifies specific genes associated with developmental delay by Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases by Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment by Leanne M. Dibbens, Patrick Tarpey, Kim Hynes, Marta A. Bayly, Ingrid E. Scheffer, Raffaella Smith, Jamee M. Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J. Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, Andy Jenkinson, Rebecca Shepherd, James F. Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y. Neufeld, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Amos D. Korczyn, Christopher P. Derry, Grant R. Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung‐Goo Kim, Daniel H. Geschwind, Paul Q. Thomas, Eric Haan, Stephen G. Ryan, Shane McKee, Samuel F. Berkovic, P. Andrew Futreal, Michael R. Stratton, John C. Mulley, Jozef Gécz

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay by Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

    Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 by Mark Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel T. Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron M. Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid M. Regan, Douglas E. Crompton, Anne‐Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin A. Smith, Alfredo Berardelli, Renée Carroll, Alison Gardner, Kathryn Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Édouard Hirsch, Eric LeGuern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A.J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gécz

    Published 2019
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes by Hao Hu, Stefan A. Haas, Jamel Chelly, Hilde Van Esch, Martine Raynaud, Arjan P.M. de Brouwer, Stefanie Weinert, Guy Froyen, Suzanna G.M. Frints, Frédéric Laumonnier, Tomasz Żemojtel, Michael I. Love, Hugues Richard, A-K Emde, Melanie Bienek, Corinna Jensen, M Hambrock, Utz Fischer, Claudia Langnick, Mirjam Feldkamp, W.M. Wissink-Lindhout, Nicolas Lebrun, L. Castelnau, J. Rucci, Rodrick Montjean, Olivier Dorseuil, Pierre Billuart, Till Stuhlmann, M Shaw, Mark Corbett, Alison Gardner, Saffron A.G. Willis‐Owen, Chuan Tan, Kathryn Friend, Stefanie Belet, Kees E. P. van Roozendaal, M Jimenez-Pocquet, M.‐P. Moizard, Nathalie Ronce, Ren Sun, Sean O’Keeffe, R Chenna, Alena van Bömmel, Jonathan Göke, Anna Hackett, Michael Field, Louise Christie, Jackie Boyle, Eric Haan, John W. Nelson, Gillian Turner, Gareth Baynam, Gabriele Gillessen‐Kaesbach, Ulrich Müller, Daniela Steinberger, Bartłomiej Budny, Magdalena Badura‐Stronka, Anna Latos‐Bieleńska, Lilian Bomme Ousager, Peter Wieacker, Germán Rodríguez Criado, M.-L. Bondeson, Göran Annerén, Andreas Dufke, Monika Cohen, Lionel Van Maldergem, C. Vincent‐Delorme, Bernard Échenne, Brigitte Simon‐Bouy, Tjitske Kleefstra, Marjolein H. Willemsen, J-P. Fryns, Koenraad Devriendt, Reinhard Ullmann, Martin Vingron, Klaus Wrogemann, Thomas F. Wienker, Andreas Tzschach, Hans van Bokhoven, Jozef Gécz, Thomas J. Jentsch, W. Chen, H‐H Ropers, Vera M. Kalscheuer

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders by Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Pérez‐Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, E. A. Thompson, Marie Shaw, Renée Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt‐Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke G. McKenna, Miroslava Hančárová, Šárka Bendová, Markéta Havlovicová, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariëtte J.V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin B. Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti‐Pierri, Nanda Rommelse, David G. Amaral, Gijs W.E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex E. Lash, Richard P. Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: