Canlyniadau Chwilio - Maria Cordisco

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Mireinio'r Canlyniadau
  1. 1
    Infantile Hemangiomas With Unusually Prolonged Growth Phase

    Infantile Hemangiomas With Unusually Prolonged Growth Phase gan Heather A. Brandling‐Bennett, Denise W. Metry, Eulàlia Baselga, Anne W. Lucky, Denise M. Adams, Maria Cordisco, Ilona J. Frieden

    Cyhoeddwyd 2008
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  2. 2
    A Novel Association between<i>RASA1</i>Mutations and Spinal Arteriovenous Anomalies

    A Novel Association between<i>RASA1</i>Mutations and Spinal Arteriovenous Anomalies gan Ruth Thiex, John B. Mulliken, Nicole Revençu, Laurence M. Boon, Patricia E. Burrows, Maria Cordisco, Yim Dwight, Edward R. Smith, Miikka Vikkula, Darren B. Orbach

    Cyhoeddwyd 2009
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  3. 3
    Stroke in Children With Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities (PHACE) Syndrome

    Stroke in Children With Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities (PHACE) Syndrome gan Dawn H. Siegel, Kimberly A. Tefft, Teresa Kelly, Craig M. Johnson, Denise W. Metry, Patricia E. Burrows, Elena Pope, Maria Cordisco, Kristen E. Holland, Mohit Maheshwari, Phillip Keith, Maria C. Garzón, Christopher P. Hess, Ilona J. Frieden, Heather J. Fullerton, Beth A. Drolet

    Cyhoeddwyd 2012
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  4. 4
    Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry)

    Congenital Cardiac, Aortic Arch, and Vascular Bed Anomalies in PHACE Syndrome (from the International PHACE Syndrome Registry) gan Michelle L. Bayer, Peter C. Frommelt, Francine Blei, Johannes M. P. J. Breur, Maria Cordisco, Ilona J. Frieden, Deborah S. Goddard, Kristen E. Holland, Alfons L. Krol, Mohit Maheshwari, Denise W. Metry, Kimberly D. Morel, Paula E. North, Elena Pope, Joseph T.C. Shieh, James F. Southern, Orli Wargon, Dawn H. Siegel, Beth A. Drolet

    Cyhoeddwyd 2013
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  5. 5
    Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

    Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations gan Julie Soblet, J. Kangas, Marjut Nätynki, Antonella Mendola, Raphaël Helaers, Mélanie Uebelhoer, Mika Kaakinen, Maria Cordisco, A. Dompmartin, O Enjolras, Simon Holden, Alan D. Irvine, Loshan Kangesu, C. Léauté‐Labrèze, Agustina Lanöel, Zerina Lokmic‐Tomkins, Saskia M. Maas, Maeve A. McAleer, Anthony Penington, Paul N.M.A. Rieu, Samira Syed, Carine van der Vleuten, Rosemarie Watson, Steven J. Fishman, John B. Mulliken, Lauri Eklund, Nisha Limaye, Laurence M. Boon, Miikka Vikkula

    Cyhoeddwyd 2016
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  6. 6
    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations gan Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula

    Cyhoeddwyd 2008
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  7. 7
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling gan Mustapha Amyere, Nicole Revençu, Raphaël Helaers, Eleonore Pairet, Eulàlia Baselga, Maria Cordisco, Wendy K. Chung, Josée Dubois, J.‐P. Lacour, Loreto Martorell, J. Mazereeuw‐Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, A. Dompmartin, David G. Brooks, Juliette Dupont, María Antonia González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Hanson‐Kahn, Louanne Hudgins, C. Léauté‐Labrèze, Catherine McCuaïg, Denise W. Metry, P. Parent, C. Paul, Florence Petit, Alice Phan, I. Quéré, Aïcha Salhi, Anne Turner, P. Vabres, Asunción Vicente, Orli Wargon, Shôji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon, Miikka Vikkula

    Cyhoeddwyd 2017
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  8. 8
    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

    <i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation gan Nicole Revençu, Laurence M. Boon, Antonella Mendola, Maria Cordisco, Josée Dubois, Philippe Clapuyt, Frank Hammer, David J. Amor, Alan D. Irvine, Eulàlia Baselga, A. Dompmartin, Samira Syed, A. Martín‐Santiago, Lesley C. Adès, Felicity Collins, Janine Smith, Sarah A. Sandaradura, Victoria R. Barrio, Patricia E. Burrows, Francine Blei, Mariarosaria Cozzolino, Nicola Brunetti‐Pierri, Asunción Vicente, Marc Abramowicz, Julie Désir, Catheline Vilain, Wendy K. Chung, Ashley Wilson, Carol Gardiner, Yim Dwight, David Lord, Leona Fishman, Cheryl Cytrynbaum, Sarah L. Chamlin, Fred Ghali, Yolanda Gilaberte, Shelagh Joss, María del Carmen Boente, C. Léauté‐Labrèze, Marie-Ange Delrue, Susan Bayliss, Loreto Martorell, Maria-Antonia González-Enseñat, J. Mazereeuw‐Hautier, Brid O’Donnell, D. Bessis, Reed E. Pyeritz, Aïcha Salhi, Oon Tian Tan, Orli Wargon, John B. Mulliken, Miikka Vikkula

    Cyhoeddwyd 2013
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  9. 9
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution gan Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    Cyhoeddwyd 2016
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