Canlyniadau Chwilio - Jonathan Berg

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  1. 1
    Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

    Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? gan Jonathan Berg, Alan E. Guttmacher, Douglas A. Marchuk, Mary Porteous

    Cyhoeddwyd 1996
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  2. 2
    Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes

    Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes gan Laura Spinelli, Fiona Black, Jonathan Berg, Britta J. Eickholt, Nicholas R. Leslie

    Cyhoeddwyd 2014
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  3. 3
    Multiplex Ligation-Dependent Probe Amplification Using a Completely Synthetic Probe Set

    Multiplex Ligation-Dependent Probe Amplification Using a Completely Synthetic Probe Set gan Rowena Stern, Roland G. Roberts, Kathy Mann, S C Yau, Jonathan Berg, Caroline Mackie Ogilvie

    Cyhoeddwyd 2004
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  4. 4
    HLA-Cw6-positive patients with psoriasis show improved response to methotrexate treatment

    HLA-Cw6-positive patients with psoriasis show improved response to methotrexate treatment gan Jonathan West, S. Ogston, Jonathan Berg, Colin N. A. Palmer, Colin Fleming, Винод Кумар, John Foerster

    Cyhoeddwyd 2017
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  5. 5
    The European Certificate in Medical Genetics and Genomics (ECMGG)

    The European Certificate in Medical Genetics and Genomics (ECMGG) gan Peter D. Turnpenny, Laura Pölsler, Ute Moog, Edward S. Tobias, Angela Peron, Susanne E. Boonen, Bonnie Lynch, Jonathan Berg

    Cyhoeddwyd 2025
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  6. 6
    Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

    Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects gan Abdulla Ibrahim, Gail Kirby, Carol Hardy, Renuka Dias, Louise Tee, Derek Lim, Jonathan Berg, Fiona MacDonald, Peter Nightingale, Eamonn R. Maher

    Cyhoeddwyd 2014
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  7. 7
    The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

    The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2 gan Jonathan Berg, Carol J. Gallione, Timothy T. Stenzel, David W. Johnson, William P. Allen, Charles E. Schwartz, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk

    Cyhoeddwyd 1997
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  8. 8
    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of published literature

    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of publishe... gan Meena Balasubramanian, Josh Willoughby, Andrew E. Fry, Astrid Weber, Helen V. Firth, Charu Deshpande, Jonathan Berg, Kate Chandler, Kay Metcalfe, Wayne Lam, Daniela T. Pilz, Susan Tomkins

    Cyhoeddwyd 2017
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    Revisão
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  9. 9
    A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

    A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. gan David W. Johnson, Jonathan Berg, Carol J. Gallione, Kimberly A. McAllister, Jon Warner, E.A. Helmbold, Dorene S. Markel, Charles E. Jackson, Mary Porteous, Douglas A. Marchuk

    Cyhoeddwyd 1995
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  10. 10
    Allelic and locus heterogeneity in inherited venous malformations

    Allelic and locus heterogeneity in inherited venous malformations gan Jennifer T. Calvert, Travis J. Riney, Christopher D. Kontos, H. Eugene, Víctor G. Prieto, Christopher R. Shea, Jonathan Berg, N. C. Nevin, Sheila A. Simpson, Krystyna A. Pasyk, Marcy C. Speer, Kevin G. Peters, Douglas A. Marchuk

    Cyhoeddwyd 1999
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  11. 11
    Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

    Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia gan Richard C. Trembath, Jennifer R. Thomson, Rajiv D. Machado, Neil V. Morgan, Carl Atkinson, Ingrid Winship, Gérald Simonneau, Nazzareno Galiè, James E. Loyd, Marc Humbert, William C. Nichols, Jonathan Berg, Alessandra Manes, Julie McGaughran, Michael W. Pauciulo, Lisa Wheeler, Nicholas W. Morrell

    Cyhoeddwyd 2001
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  12. 12
    Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

    Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects gan Vinciane Wouters, Nisha Limaye, Mélanie Uebelhoer, Alexandre Irrthum, Laurence M. Boon, John B. Mulliken, O Enjolras, Eulàlia Baselga, Jonathan Berg, A. Dompmartin, Sten A. Ivarsson, Loshan Kangesu, Yves Lacassie, Jill Murphy, Ahmad S. Teebi, Anthony Penington, Paul N.M.A. Rieu, Miikka Vikkula

    Cyhoeddwyd 2009
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  13. 13
    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

    EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations gan Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer, Jonathan Berg, Niklas Darín, Abhijit Dixit, Joël Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas S. Jacques, Mary D. King, Periklis Makrythanasis, Adrienn Máté, James A. R. Nicoll, Declan O’Rourke, Sue Price, Andrew N. Williams, Louise C. Wilson, Mohnish Suri, László Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles B.L.M. Majoie, Henk A. Marquering, Bwee Tien Poll‐The, Frank Baas

    Cyhoeddwyd 2014
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  14. 14
    Germline mutations in RAD51D confer susceptibility to ovarian cancer

    Germline mutations in RAD51D confer susceptibility to ovarian cancer gan Chey Loveday, Clare Turnbull, Emma Ramsay, Deborah Hughes, Elise Ruark, Jessica Frankum, Georgina R. Bowden, Bolot Kalmyrzaev, Margaret Warren-Perry, Katie Snape, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Diana Eccles, D. Gareth Evans, Anthony Renwick, Sheila Seal, Christopher J. Lord, Alan Ashworth, Jorge S. Reis‐Filho, Antonis C. Antoniou, Nazneen Rahman

    Cyhoeddwyd 2011
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  15. 15
    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

    Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer gan Elise Ruark, Katie Snape, Peter Humburg, Chey Loveday, Ilirjana Bajrami, Rachel Brough, Daniel Nava Rodrigues, Anthony Renwick, Sheila Seal, Emma Ramsay, Silvana Del Vecchio Duarte, Manuel A. Rivas, Margaret Warren-Perry, Anna Zachariou, Adriana Campion‐Flora, Sandra Hanks, Anne R. Murray, Naser Ansari‐Pour, Jenny Douglas, Lorna Gregory, Andrew J. Rimmer, Neil Walker, Tsun-Po Yang, Julian Adlard, Julian Barwell, Jonathan Berg, Angela F. Brady, Carole Brewer, Glen Brice, Cyril Chapman, Jackie Cook, Rosemarie Davidson, Alan Donaldson, Fiona Douglas, Diana Eccles, D. Gareth Evans, Lynn Greenhalgh, Alex Henderson, Louise Izatt, Ajith Kumar, Fiona Lalloo, Zosia Miedzybrodzka, Patrick J. Morrison, Joan Paterson, Mary Porteous, Mark T. Rogers, Susan Shanley, Lisa Walker, Martin Gore, Richard S. Houlston, Matthew A. Brown, Mark J. Caufield, Panos Deloukas, Mark I. McCarthy, John A. Todd, Clare Turnbull, Jorge S. Reis‐Filho, Alan Ashworth, Antonis C. Antoniou, Christopher J. Lord, Peter Donnelly, Nazneen Rahman

    Cyhoeddwyd 2012
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  16. 16
    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

    Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study gan Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Marie Erwood, David Lafont, Husne Timur, Zheng Ye, Susan Walker, Frida Printzlau, Manoj Juj, Sarah Davies, Hayley Denyer, Alice Watkins, Eleanor Kerry, Nadia Coscini, Nasrtullah Fatih, Anna Lucock, Spiros Denaxas, William Mandy, Neil Walker, Sarah B. Wallwork, Eleanor Dewhurst, Andrew Cuthbert, Aimée Challenger, Sophie C. Andrews, Peter Holmans, Samantha Bowen, Karen Bradley, Philippa Birch, Molly Tong, Nicola S. Lewis, Sinead Ray, Matthew Sopp, Hayley Moss, Sarah Wynn, Beverley A. Searle, Lisa Robertson, Jonathan Berg, Anne Lampe, Shelagh Joss, Paul Brennan, Alison Kraus, Nayana Lahiri, Astrid Weber, Myfanwy Rawson, Diana Johnson, Pradeep Vasudevan, Rachel Harrison, Denise Williams, Eamonn R. Maher, Usha Kini, Fleur van Dijk, Virginia Clowes, Jana Gurasashvilli, Sahar Mansour, Muriel Holder-Espinasse, Amy Watford, Julia Rankin, Diana Baralle, Annie Procter, Tamsin Ford, Kate Baker, Samuel J. R. A. Chawner, Jérémy Hall, Marianne B. M. van den Bree, Michael J. Owen, David Skuse, F. Lucy Raymond, David Skuse, F. Lucy Raymond

    Cyhoeddwyd 2022
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  17. 17
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study gan Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Cyhoeddwyd 2016
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  18. 18
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders gan Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Cyhoeddwyd 2017
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  19. 19
    Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Evidence for 28 genetic disorders discovered by combining healthcare and research data gan 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

    Cyhoeddwyd 2020
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  20. 20
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders gan 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

    Cyhoeddwyd 2021
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