Resultats de la cerca - Vivienne McConnell

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  1. 1
    Neovascular Age-Related Macular Degeneration Risk Based on CFH, LOC387715/HTRA1, and Smoking

    Neovascular Age-Related Macular Degeneration Risk Based on CFH, LOC387715/HTRA1, and Smoking per Anne E. Hughes, Nick Orr, C. C. Patterson, Hossein Esfandiary, Ruth Hogg, Vivienne McConnell, Giuliana Silvestri, Usha Chakravarthy

    Publicat 2007
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  2. 2
    Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

    Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome per Bart Loeys, Elizabeth E. Gerber, Douglas L. Riegert‐Johnson, Sarah Iqbal, Pat Whiteman, Vivienne McConnell, Chandramouli Chillakuri, Daniela Macaya, Paul Coucke, Anne De Paepe, Daniel P. Judge, Fredrick M. Wigley, Elise Davis, Helen J. Mardon, Penny A. Handford, Douglas R. Keene, Lynn Y. Sakai, Harry C. Dietz

    Publicat 2010
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  3. 3
    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome per Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill

    Publicat 2015
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  4. 4
    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

    De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome per Hannah Sleven, Seth J. Welsh, Jing Yu, Mair E. A. Churchill, Caroline F. Wright, Alex Henderson, Rita Horváth, Julia Rankin, Julie Vogt, Alex Magee, Vivienne McConnell, Andrew Green, Mary D. King, Helen Cox, Linlea Armstrong, Anna Lehman, Tanya N. Nelson, Jonathan Williams, Penny Clouston, James Hagman, Andrea H. Németh

    Publicat 2016
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  5. 5
    Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

    Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I per Antonella Meloni, Maria Furcas, Filomena Cetani, Claudio Marcocci, Alberto Falorni, Roberto Perniola, M Pura, Anette S. B. Wolff, Eystein S. Husebye, Desa Lilić, Kelli R. Ryan, Andrew R. Gennery, Andrew J. Cant, Mario Abinun, Gavin P Spickett, Peter D. Arkwright, David W. Denning, Colm Costigan, María Domínguez, Vivienne McConnell, Nick Willcox, Anthony Meager

    Publicat 2008
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  6. 6
    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriov... per Srimmitha Balachandar, Tamara Graves, Anika Shimonty, Katie Kerr, Jill Kilner, Sihao Xiao, Richard Slade, Manveer Sroya, Mary Alikian, Emanuel Curetean, Ellen Thomas, Vivienne McConnell, Shane McKee, F. Boardman-Pretty, A. Devereau, Tom Fowler, Mark J. Caulfield, Eric W.F.W. Alton, Teena Ferguson, Julian Redhead, Amy Jayne McKnight, Geraldine Thomas, Micheala A. Aldred, Claire L. Shovlin

    Publicat 2021
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  7. 7
    Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

    Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height per Katrina Tatton‐Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne R. Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol L. Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael A. Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia G. Wheeler, I. Karen Temple, Trevor Cole, Jenny Douglas, Nazneen Rahman

    Publicat 2011
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  8. 8
    Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

    Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I per Anne Puel, Rainer Döffinger, Angels Natividad, Maya Chrabieh, Gabriela Barcenas‐Morales, Capucine Pïcard, Aurélie Cobat, O Marie, A. Toulon, Jacinta Bustamante, Saleh Al‐Muhsen, Mohammed Al‐Owain, Peter D. Arkwright, Colm Costigan, Vivienne McConnell, Andrew J. Cant, Mario Abinun, Michel Polak, Pierre-François Bougnères, Dinakantha Kumararatne, László Maródi, Amit Nahum, Chaim M. Roifman, Stéphane Blanche, Alain Fischer, Christine Bodemer, Laurent Abel, Desa Lilić, Jean‐Laurent Casanova

    Publicat 2010
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  9. 9
    Clinical and genetic aspects of KBG syndrome

    Clinical and genetic aspects of KBG syndrome per Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton‐Smith, Charu Deshpande, Alan Donaldson, Richard Fisher, Frances Flinter, Nicola Foulds, Alan Fryer, Kate Gibson, Ian Hayes, Alison Hills, Susan Holder, Melita Irving, Shelagh Joss, Emma Kivuva, Katherine Lachlan, Alex Magee, Vivienne McConnell, Meriel McEntagart, Kay Metcalfe, Tara Montgomery, Ruth Newbury‐Ecob, Fiona Stewart, Peter D. Turnpenny, Julie Vogt, David Fitzpatrick, Maggie Williams, Sarah Smithson

    Publicat 2016
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  10. 10
    Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study

    Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study per Eleanor Fewings, Alexey A. Larionov, James Redman, Mae A. Goldgraben, James A. Scarth, Susan Richardson, Carole Brewer, Rosemarie Davidson, Ian O. Ellis, D. Gareth Evans, Dorothy Halliday, Louise Izatt, Peter Marks, Vivienne McConnell, L Verbist, Rebecca Mayes, Graeme R. Clark, James Hadfield, Suet‐Feung Chin, Manuel R. Teixeira, Olivier Giger, Richard Hardwick, Massimiliano di Pietro, Maria O’Donovan, Paul D.P. Pharoah, Carlos Caldas, Rebecca C. Fitzgerald, Marc Tischkowitz

    Publicat 2018
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  11. 11
    Pathogenicity and selective constraint on variation near splice sites

    Pathogenicity and selective constraint on variation near splice sites per Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth Wynn, Sebastian S. Gerety, Liu He, Bronwyn Kerr, Diana Johnson, Emma McCann, Esther Kinning, Frances Flinter, I. Karen Temple, Jill Clayton‐Smith, Meriel McEntagart, Sally Ann Lynch, Shelagh Joss, Sofia Douzgou, Tabib Dabir, Virginia Clowes, Vivienne McConnell, Wayne Lam, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Jeffrey C. Barrett, Matthew E. Hurles

    Publicat 2018
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  12. 12
    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype per Katrina Tatton‐Brown, Anne R. Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valérie Cormier‐Daire, Tom Cushing, Frances Flinter, Marie‐Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael A. Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra E. Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Nazneen Rahman

    Publicat 2013
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  13. 13
    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>

    Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i> per Katrina Andrews, David B. Ascher, Douglas E. V. Pires, Daniel R. Barnes, Lindsey Vialard, Ruth Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V. Hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne McConnell, Patrick J. Morrison, Victoria Murday, Soo‐Mi Park, Helen Simpson, Katie Snape, Susan E. Stewart, Susan Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S. Lindsay, Colin Perry, Emma R. Woodward, Antonis C. Antoniou, Eamonn R. Maher

    Publicat 2018
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  14. 14
    DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

    DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes per Sanaa Choufani, William T. Gibson, Andrei L. Turinsky, Brian Hon‐Yin Chung, Tianren Wang, Kopal Garg, Alessandro Vitriolo, Ana S.A. Cohen, Sharri Cyrus, Sarah J. Goodman, Eric Chater‐Diehl, Jack Brzezinski, Michael Brudno, Luk Ho Ming, Susan M. White, Sally Ann Lynch, Carol L. Clericuzio, I. Karen Temple, Frances Flinter, Vivienne McConnell, Tom Cushing, Lynne M. Bird, Miranda Splitt, Bronwyn Kerr, Stephen W. Scherer, Jerry Machado, Eri Imagawa, Nobuhiko Okamoto, Naomichi Matsumoto, Giuseppe Testa, Maria Iascone, Romano Tenconi, Oana Caluseriu, Roberto Mendoza‐Londono, David Chitayat, Cheryl Cytrynbaum, Katrina Tatton‐Brown, Rosanna Weksberg

    Publicat 2020
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  15. 15
    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum per Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael Parker, Yanick J. Crow, Bronwyn Kerr, Helen Kingston, Kay Metcalfe, Kate Chandler, Alex Magee, Fiona Stewart, Vivienne McConnell, Deirdre E. Donnelly, Siren Berland, Gunnar Houge, Jenny E.V. Morton, Christine Oley, Nicole Revençu, Soo-Mi Park, Sally Davies, Andrew E. Fry, Sally Ann Lynch, Harinder Gill, Susann Schweiger, Wayne Lam, John Tolmie, Shehla Mohammed, Emma Hobson, Audrey Smith, Moira Blyth, Christopher Bennett, Pradeep Vasudevan, Sixto García‐Miñaúr, Alex Henderson, Judith Goodship, Michael Wright, Richard Fisher, Richard J. Gibbons, Susan Price, Deepthi C. de Silva, I. Karen Temple, Amanda Collins, Katherine Lachlan, Frances Elmslie, Meriel McEntagart, Bruce Castle, Jill Clayton‐Smith, Graeme Black, Dian Donnai

    Publicat 2011
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  16. 16
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... per Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Publicat 2019
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  17. 17
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism per Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    Publicat 2014
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  18. 18
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data per Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt, Giuseppe Gallone, Stefan H. Lelieveld, Hilary C. Martin, Jeremy F. McRae, Patrick Short, Rebecca Torene, Elke de Boer, Petr Danecek, Eugene J. Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R.F. Reijnders, Alison Yeung, Helger G. Yntema, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer

    Publicat 2020
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  19. 19
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders per Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Sílvia Borràs, Caroline Clark, John Dean, Zosia Miedzybrodzka, Alison Ross, Stephen Tennant, Tabib Dabir, Deirdre Donnelly, Mervyn Humphreys, Alex Magee, Vivienne McConnell, Shane McKee, Susan McNerlan, Patrick J. Morrison, Gillian Rea, Fiona Stewart, Trevor Cole, Nicola Cooper, Lisa Cooper‐Charles, Helen Cox, Lily Islam, Joanna Jarvis, Rebecca Keelagher, Derek Lim, Dominic McMullan, Jenny Morton, Swati Naik, Mary O’Driscoll, Kai‐Ren Ong, Deborah Osio, Nicola Ragge, Sarah Turton, Julie Vogt, Denise Williams, Simon Bodek, Alan Donaldson, Alison Hills, Karen Low, Ruth Newbury‐Ecob, Andrew Norman, Eileen Roberts, Ingrid Scurr, Sarah Smithson, Madeleine Tooley, Stephen Abbs, Ruth Armstrong, Carolyn Dunn, Simon Holden, Soo‐Mi Park, Joan Paterson, Lucy Raymond, Evan Reid, Richard Sandford, Ingrid Simonic, Marc Tischkowitz, Geoff Woods, Lisa Bradley, Joanne Comerford, Andrew Green, Sally Ann Lynch, Shirley McQuaid, Brendan Mullaney, Jonathan Berg, David Goudie, Eleni Mavrak, Joanne McLean, Catherine McWilliam, Eleanor Reavey, Tara Azam, Elaine Cleary, Andrew P. Jackson, Wayne Lam, Anne Lampe, David Moore, Mary Porteous, Emma L. Baple, Júlia Baptista, Carole Brewer, Bruce Castle, Emma Kivuva, Martina Owens, Julia Rankin, Charles Shaw‐Smith, Claire Turner, Peter D. Turnpenny, Carolyn Tysoe, Therese Bradley, Rosemarie Davidson

    Publicat 2021
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