检索结果 - Ana Beleza‐Meireles

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  1. 1
    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update 由 Ana Beleza‐Meireles, Jill Clayton‐Smith, Jorge Saraiva, May Tassabehji

    出版 2014
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  2. 2
    FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

    FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias 由 Ana Beleza‐Meireles, Fredrik Lundberg, Kristina Lagerstedt‐Robinson, Xiaolei Zhou, Davood Omrani, Louise Frisén, Agneta Nordenskjöld

    出版 2007
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  3. 3
    Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

    Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) 由 Sahar Elouej, Ana Beleza‐Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean-Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre‐Giovannoli

    出版 2017
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  4. 4
    47 patients with FLNA associated periventricular nodular heterotopia

    47 patients with FLNA associated periventricular nodular heterotopia 由 Max Lange, Burkhard S. Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, A. Ferbert, Andreas Hahn, Barbara Oehl‐Jaschkowitz, Luitgard Graul‐Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers‐Renelt, Ana Beleza‐Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Jürgen Winkler, Gerhard Schuierer, Ute Hehr

    出版 2015
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  5. 5
    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome 由 Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily K. Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin A. Chang, Abhijit Dixit, Monica Konstantino, Christopher Healy, Sumayyah Hannan, Natsuko Neo, Alex Cash, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Ruth Cleaver, Diana Baralle, Meriel McEntagart, Ruth Newbury‐Ecob, Richard H. Scott, Jane A. Hurst, Ping Yee Billie Au, Marie Thérèse Hosey, Mustafa K. Khokha, Denise K. Marciano, Saquib A. Lakhani, Karen Liu

    出版 2020
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  6. 6
    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

    Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta 由 Shahida Moosa, Guilherme Lopes Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza‐Meireles, Carolina Moreno, Eugênia Ribeiro Valadares, Sérgio B. Sousa, Sofia Maia, Jorge Saraiva, Rachel Sayuri Honjo, Chong Ae Kim, Hamilton Cabral De Menezes, Ekkehart Lausch, Pablo Villavicencio Lorini, Arsonval Lamounier, Tulio Canella Bezerra Carniero, Cecilia Giunta, Marianne Rohrbach, Marco Janner, Oliver Semler, Filippo Beleggia, Yun Li, Gökhan Yigit, Nadine Reintjes, Janine Altmüller, Peter Nürnberg, Denise P. Cavalcanti, Bernhard Zabel, Matthew L. Warman, Débora Romeo Bertola, Bernd Wollnik, Christian Netzer

    出版 2019
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  7. 7
    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy 由 Samantha J. Bryen, Lisa Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O’Grady, Beryl B. Cummings, Katherine R. Chao, Ben Weisburd, Laurent C. Francioli, Fathimath Faiz, Adam Bournazos, Ying Hu, Carla Grosmann, Denise Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G. Claeys, Kathryn Urankar, Ana Beleza‐Meireles, Júlia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper

    出版 2019
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  8. 8
    Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

    Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration 由 Claire L. Simpson, Robin Lemmens, Katarzyna Miśkiewicz, Wendy Broom, Valerie K. Hansen, Paul W.J. van Vught, John E. Landers, Peter C. Sapp, Ludo Van Den Bosch, Jo Knight, Benjamin M. Neale, Martin R. Turner, Jan H. Veldink, Roel A. Ophoff, Vineeta B. Tripathi, Ana Beleza‐Meireles, Meera N. Shah, Petroula Proitsi, Annelies Van Hoecke, Peter Carmeliet, H. Robert Horvitz, P. Nigel Leigh, Christopher E. Shaw, Leonard H. van den Berg, Pak C. Sham, John Powell, Patrik Verstreken, Robert H. Brown, Wim Robberecht, Ammar Al‐Chalabi

    出版 2008
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  9. 9
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients 由 Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    出版 2019
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  10. 10
    Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

    Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease 由 Scott E. Youlten, John P. Kemp, John G. Logan, Elena J. Ghirardello, C. Marcelo Sergio, Michael R.G. Dack, Siobhan E. Guilfoyle, Victoria D. Leitch, Natalie C. Butterfield, Davide Komla‐Ebri, Ryan C. Chai, Alexander P. Corr, James Smith, Sindhu T. Mohanty, John Morris, Michelle M. McDonald, Julian M.W. Quinn, Amelia McGlade, Nenad Bartoniček, Matt Jansson, Konstantinos Hatzikotoulas, Melita Irving, Ana Beleza‐Meireles, Fernando Rivadeneira, Emma L. Duncan, J. Brent Richards, David J. Adams, Christopher J. Lelliott, Robert Brink, Tri Giang Phan, John A. Eisman, David M. Evans, Eleftheria Zeggini, Paul A. Baldock, J. H. Duncan Bassett, Graham R. Williams, Peter I. Croucher

    出版 2021
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  11. 11
    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

    Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome 由 Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza‐Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O’Donnell‐Luria, C. Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita Sáenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke E. Verbeek, Jiddeke M. van de Kamp, Janneke M.M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange‐Line Bruel, Arthur Sorlin, Mary Willis, Zöe Powis, Thomas Smol, Catherine Vincent‐Delorme, Diana Baralle, Estelle Colin, Nicole Revençu, Eduardo Calpena, Andrew O.M. Wilkie, Maya Chopra, Valérie Cormier‐Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Antonio Terracciano, Nicola Specchio, Marco Tartaglia, Marlène Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

    出版 2022
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