Výsledky vyhledávání - Miranda Splitt

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  1. 1
    Defects in the determination of left-right asymmetry.

    Defects in the determination of left-right asymmetry. Autor Miranda Splitt, John Burn, Judith Goodship

    Vydáno 1996
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  2. 2
    Patterns of recurrence of congenital heart disease

    Patterns of recurrence of congenital heart disease Autor Harinder Gill, Miranda Splitt, Gurleen Sharland, John Simpson

    Vydáno 2003
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  3. 3
    A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

    A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome Autor Sabine M. Klauck, Susan Lindsay, Kim S. Beyer, Miranda Splitt, John Burn, Annemarie Poustka

    Vydáno 2002
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  4. 4
    Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24

    Autozygosity Mapping of a Seckel Syndrome Locus to Chromosome 3q22.1-q24 Autor Judith Goodship, Harinder Gill, Joan Carter, Andrew P. Jackson, Miranda Splitt, Michael Wright

    Vydáno 2000
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  5. 5
    Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

    Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1 Autor Rebecca Poole, Donald J Leith, Louise E Docherty, Mansur E Shmela, Christine Gicquel, Miranda Splitt, I. Karen Temple, Deborah Mackay

    Vydáno 2011
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  6. 6
    Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

    Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes Autor Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, Martin J. Carette, Julia D. Grant, N R Dennis, William Reardon, Miranda Splitt, Andrew Read, D Donnai

    Vydáno 1999
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  7. 7
    FHF1 (FGF12) epileptic encephalopathy

    FHF1 (FGF12) epileptic encephalopathy Autor Sameer Al‐Mehmadi, Miranda Splitt, Venkateswaran Ramesh, Suzanne D. DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A. Rosenfeld, Patrick Cossette, Jacques L. Michaud, Fadi F. Hamdan, Philippe M. Campeau, Berge A. Minassian, Jeffrey C. Barrett, Matthew E. Hurles

    Vydáno 2016
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  8. 8
    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine Autor Víctor Faúndes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith D. Ranells, Miranda Splitt, Laura Cross, Carol Saunders, Bonnie Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

    Vydáno 2021
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  9. 9
    Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

    Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome Autor Diane Beysen, Jeroen Raes, Bart P. Leroy, Anneke Lucassen, John R.W. Yates, Jill Clayton‐Smith, Helena G. Ilyina, Susan Sklower Brooks, Sophie Christin‐Maître, Marc Fellous, J. P. Fryns, J.R. Kim, Pablo Lapunzina, Emmanuelle Lemyre, Françoise Meire, Ludwine Messiaen, Christine Oley, Miranda Splitt, James Thomson, Yves Van de Peer, Reiner A. Veitia, Anne De Paepe, Elfride De Baere

    Vydáno 2005
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  10. 10
    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 Autor 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

    Vydáno 2011
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  11. 11
    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

    Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation Autor Nathaniel H. Robin, Clare Taylor, Donna M. McDonald‐McGinn, Elaine H. Zackai, Peter M. Bingham, Kevin Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean‐Pierre Lin, David R. Lynch, Shehla Mohammed, R. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. Stevens, Marc Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

    Vydáno 2006
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  12. 12
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders Autor Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Vydáno 2022
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  13. 13
    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype

    Weaver syndrome and <i>EZH2</i> mutations: Clarifying the clinical phenotype Autor 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

    Vydáno 2013
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  14. 14
    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort Autor Josephina Meester, Maja Sukalo, Kim Schroder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana Johnson, Shelagh Joss, Hannele Koillinen, F. Ellis McKenzie, Jenny Morton, Heike Nelle, William Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard C. Trembath, Lut Van Laer, Bart Loeys, Martin Zenker, Laura Southgate, Wim Wuyts

    Vydáno 2018
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  15. 15
    Quantifying the contribution of recessive coding variation to developmental disorders

    Quantifying the contribution of recessive coding variation to developmental disorders Autor Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre, Gabriela Sánchez-Andrade, Mark Sanderson, James Stephenson, Carla P. Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger, Jeremy F. McRae, Elena Prigmore, Patrick Short, Mari Niemi, Joanna Kaplanis, Elizabeth J. Radford, Nadia Akawi, Meena Balasubramanian, John Dean, Rachel Horton, Alice Hulbert, Diana Johnson, Katie Johnson, Dhavendra Kumar, Sally Ann Lynch, Sarju Mehta, Jenny Morton, Michael Parker, Miranda Splitt, Peter D. Turnpenny, Pradeep Vasudevan, Michael Wright, Andrew Bassett, Sebastian S. Gerety, Caroline F. Wright, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles, Jeffrey C. Barrett

    Vydáno 2018
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  16. 16
    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 Autor 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

    Vydáno 2020
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  17. 17
    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1

    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 Autor Jannath Begum Ali, Luke Mason, Tony Charman, Mark H. Johnson, Jonathan Green, Shruti Garg, Emily J. Jones, Mary Agyapong, Tessel Bazelmans, Leila Dafner, Mutluhan Ersoy, Teodora Gliga, Amy Goodwin, Rianne Haartsen, Hanna Halkola, Alexandra Hendry, Rebecca Holman, Sarah Kalwarowsky, Anna Kolesnik, Sarah Lloyd‐Fox, Nisha Narvekar, Laura Pirazzoli, Chloë Taylor, Grace Vassallo, Emma Burkitt‐Wright, Judith Eelloo, D. Gareth Evans, Siobhan West, Eileen Hupton, Lauren Lewis, Louise Robinson, Angus Dobbie, Ruth Drimer, Saghira Malik Sharif, Rachel Jones, Susan Musson, Catherine Prem, Miranda Splitt, Karen Horridge, Diana Baralle, Carolyn Redman, Helen Tomkins

    Vydáno 2025
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  18. 18
    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

    Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness Autor Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Shenghao Cao, Somayyeh Fahiminiya, Haitao Ren, Ian M. MacDonald, I. López, Vincent Sun, Vafa Keser, Ayesha Khan, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Kateřina Hodaňová, Lenka Piherová, Ladislav Kuchař, A Baxová, R Chen, Orlando Graziani Póvoas Barsottini, Angela Pyle, Helen Griffin, Miranda Splitt, Juliana Maria Ferraz Sallum, John Tolmie, Julian R. Sampson, Patrick F. Chinnery, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Eyal Banin, Dror Sharon, Sayantanee Dutta, Rudi Grebler, C. Helfrich-Foerster, José Luiz Pedroso, Doris Kretzschmar, Michel Cayouette, R. K. Koenekoop

    Vydáno 2015
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  19. 19
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation Autor Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Vydáno 2023
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  20. 20
    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

    Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Autor Margaret J. McMillin, Anita Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi Gildersleeve, Mariana Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh R. Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott H. Sherr, Miranda Splitt, Helen Stewart, Constance T. R. M. Stumpel, Şehime Gülsün Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Vydáno 2014
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