检索结果 - Juan Pié

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  1. 1
    Pathogenic variants in <scp><i>EP300</i></scp> and <scp><i>ANKRD11</i></scp> in patients with phenotypes overlapping Cornelia de Lange syndrome

    Pathogenic variants in <scp><i>EP300</i></scp> and <scp><i>ANKRD11</i></scp> in patients with phenotypes overlapping Cornelia de Lange syndrome 由 Francesco Cucco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo, Ana Latorre, Cinzia Magnani, Beatriz Puisac, Feliciano J. Ramos, Juan Pié, Antonio Musio

    出版 2020
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  2. 2
    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

    Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey 由 Sarika Rohatgi, Dinah Clark, Antonie D. Kline, Laird G. Jackson, Juan Pié, Victoria Mok Siu, Feliciano J. Ramos, Ian D. Krantz, Matthew A. Deardorff

    出版 2010
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  3. 3
    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

    Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes 由 Ana Latorre, Ángela Ascaso, Laura Trujillano, Marta Gil‐Salvador, María Arnedo, Cristina Lucia‐Campos, Rebeca Antoñanzas-Pérez, Íñigo Marcos‐Alcalde, Ilaria Parenti, Gloria Bueno, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez‐Puertas, Juan Pié

    出版 2020
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  4. 4
    Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

    Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation 由 Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, K Lillquist, Victoria Mok Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz

    出版 2007
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  5. 5
    MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

    MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome 由 Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casà, Riccardo Berutti, Rutger W. W. Brouwer, Valérie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano J. Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, Wilfred F. J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt

    出版 2020
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  6. 6
    Mutations and variants in the cohesion factor genes <i>NIPBL</i>, <i>SMC1A</i>, and <i>SMC3</i> in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

    Mutations and variants in the cohesion factor genes <i>NIPBL</i>, <i>SMC1A</i>, and <i>SMC3</i> in a cohort of 30 unrelated patients with Cornelia de Lange syndrome 由 Juan Pié, María Concepción Gil‐Rodríguez, Milagros Ciero, Eduardo López‐Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos De Karam, Encarnación Rubio Aranda, Inés Bueno, A Baldellou, Ma Teresa Calvo, Núria Casals, José L. Olivares, Ana Losada, Fausto G. Hegardt, Ian D. Krantz, Paulino Gómez‐Puertas, Feliciano J. Ramos

    出版 2010
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  7. 7
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants 由 Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    出版 2017
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  8. 8
    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement 由 Antonie D. Kline, Joanna Moss, Angelo Selicorni, Anne‐Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Maria Antonella Costantino, Valérie Cormier‐Daire, David Fitzpatrick, Marco A. Grados, Laura Groves, W. Spencer Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia T. O’Connor, Chris Oliver, Juan Pié, Sigrid Piening, Carol Potter, Ana L. Quaglio, E. Redeker, David M. Richman, Claudia Rigamonti, Angell Shi, Zeynep Tümer, Ingrid D. C. van Balkom, Raoul C. M. Hennekam

    出版 2018
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    Revisão
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  9. 9
    <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes 由 María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher Tan, Ilaria Parenti, Carolina Baquero‐Montoya, Lilian Bomme Ousager, Beatriz Puisac, María Hernández-Marcos, Maria Esperanza Teresa‐Rodrigo, Íñigo Marcos‐Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martínez, Dinah Clark, Nicola Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Yiran Guo, Hákon Hákonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, Maria Kibæk, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Leslie A. Lange, Xuanzhu Liu, Milena Mariani, Jonathan Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine Wusik, Louise C. Wilson, Jianguo Zhang, Paulino Gómez‐Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C. M. Hennekam, Frank J. Kaiser, David Fitzpatrick, Juan Pié

    出版 2015
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  10. 10
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance 由 Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    出版 2014
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