Výsledky vyhledávání - Mónica Roselló

  • Zobrazuji výsledky 1 - 11 z 11
Upřesnit hledání
  1. 1
    Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

    Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes Autor Francisco Martı́nez, Purificación Marín Reina, A. Sanchís Calvo, Antonio Pérez Aytés, Silvestre Oltra, Mónica Roselló, Sonia Mayo, Sandra Monfort, Jorge Pantoja, Carmen Orellana

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

    Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern Autor Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koenraad Devriendt, Mónica Roselló, Sonia Mayo, Francisco Martı́nez, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris Vermeesch, Peter Marynen, Guy Froyen

    Vydáno 2016
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

    Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements Autor Guy Froyen, Stefanie Belet, Francisco Martı́nez, Cíntia Barros Santos-Rebouças, Matthias Declercq, Jelle Verbeeck, Lene Donckers, Siren Berland, Sonia Mayo, Mónica Roselló, Márcia Mattos Gonçalves Pimentel, Natalia Fintelman‐Rodrigues, Randi Hovland, Suely Rodrigues dos Santos, F. Lucy Raymond, T T-Deformed d Bose, Mark Corbett, Leslie J. Sheffield, Conny M.A. van Ravenswaaij‐Arts, Trijnie Dijkhuizen, Charles Coutton, Véronique Satre, Victoria Mok Siu, Peter Marynen

    Vydáno 2012
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

    Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Autor Sureni V. Mullegama, Jill A. Rosenfeld, Carmen Orellana, Bregje W.M. van Bon, Sara Halbach, Elena Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Mónica Roselló, Swaroop Aradhya, Dimitri J. Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C. Hodge, Michael E. Talkowski, James F. Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E. Pyatt, Darrel Waggoner, Lisa G. Shaffer, Angela E. Lin, Bert B.A. de Vries, Roberto Mendoza-Londoño, Sarah H. Elsea

    Vydáno 2013
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome Autor Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Fabian Kaiser, Aglaia Vignoli, Rainer Rossi, M.P. Botella, Magdalena Budişteanu, Mónica Roselló, Carmen Orellana, María‐Isabel Tejada, Sorina Mihaela Papuc, O. Patat, Sophie Julia, Renaud Touraine, Thusari Gomes, K. Wenner, Xiu Xu, Alexandra Afenjar, Annick Toutain, Nicole Philip, Aleksandra Jezela‐Stanek, Ludwig Gortner, Francisco Martı́nez, Bernard Échenne, V. Wahn, Christian Meisel, Dagmar Wieczorek, Salima El-Chehadeh, Hilde Van Esch, Horst von Bernuth

    Vydáno 2015
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

    HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Autor Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valérie Benoît, Alfonso Caro‐Llopis, Nicola Cooper, François‐Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn Ivar Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martı́nez, Sarju Mehta, Marie‐Cécile Nassogne, Nina Powell‐Hamilton, Rolph Pfundt, Mónica Roselló, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen‐Dumoulin, Alain Verloès, Charlotte von der Lippe, Emma Wakeling, Andrew O.M. Wilkie, Louise C. Wilson, Amy Lawson Yuen, Ddd Study, Karen Low, Ruth Newbury‐Ecob

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder Autor Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

    TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Autor Jason O'Rawe, Yiyang Wu, Max J. Dörfel, Alan F. Rope, Ping Yee Billie Au, Jillian S. Parboosingh, Sungjin Moon, Maria Kousi, Konstantina Kosma, Christopher Smith, Maria Tzetis, Jane L. Schuette, Robert B. Hufnagel, Carlos E. Prada, Francisco Martı́nez, Carmen Orellana, Jonathan Crain, Alfonso Caro‐Llopis, Silvestre Oltra, Sandra Monfort, Laura T. Jiménez-Barrón, Jeffrey Swensen, Sara Ellingwood, Rosemarie Smith, Han Fang, Sandra Ospina, Alexander P.A. Stegmann, Nicolette S. den Hollander, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Laurence Faivre, Agathe Roubertie, Jean‐Baptiste Rivière, Kristin G. Monaghan, Kai Wang, Erica E. Davis, Nicholas Katsanis, Vera M. Kalscheuer, Edith H. Wang, Kay Metcalfe, Tjitske Kleefstra, A. Micheil Innes, Sophia Kitsiou‐Tzeli, Mónica Roselló, Catherine E. Keegan, Gholson J. Lyon

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature

    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature Autor Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa

    Vydáno 2018
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

    Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Autor Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas X. Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong‐hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather M. McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martı́nez, Alfonso Caro‐Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan‐Khetarpal, Sonal Desai, Sakkubai Naidu, Julien Thévenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer Tarpinian, Jill A. Rosenfeld, Brendan Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David Bick, Camille L. Birch, Devon Bonner, Braden Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos R. Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autor Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila Al‐Kindy, Anwar Baban, Allan Bayat, Stefanie Beck‐Wödl, Katherine Berry, Emilia K. Bijlsma, Levinus A. Bok, Alwin F.J. Brouwer, Ineke van der Burgt, Philippe M. Campeau, Natalie Canham, Krystyńa Chrzańowska, Yoyo W. Y. Chu, Brain H.Y. Chung, Karin Dahan, Marjan De Rademaeker, Anne Destrèe, Tracy Dudding‐Byth, Rachel K. Earl, Nursel Elçioğlu, Ellen Roy Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H. Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R. Heitink, Johanna C. Herkert, Nicolette S. den Hollander, Denise Horn, David Hunt, Sarina G. Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra KAYA KILIÇ, Małgorzata Krajewska‐Walasek, Kylin Lammers, Lone Walentin Laulund, Damien Lederer, Melissa Lees, Vanesa López‐González, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Francisco Martı́nez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff M. Milunsky, Seiji Mizuno, John B. Moeschler, Christian Netzer, Charlotte W. Ockeloen, Barbara Oehl‐Jaschkowitz, Nobuhiko Okamoto, Sharon N.M. Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P. Robertson, Maian Roifman, Caroline Rooryck, Fabienne G. Ropers, Mónica Roselló, Claudia Ruivenkamp, Mahmut Şamil Sağıroğlu, Suzanne C.E.H. Sallevelt, A. Sanchís Calvo, Pelin Özlem Şimşek‐Kiper, Gabriela Soares, Lucia Solaeche, Fatma Müjgan Sönmez, Miranda Splitt, Duco Steenbeek, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, Saori Tanabe, Eyyüp Üçtepe, Gülen Eda Ütine, Hermine E. Veenstra‐Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent‐Delorme, Anneke T. Vulto‐van Silfhout, Patricia G. Wheeler, Golder N. Wilson, Louise C. Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek

    Vydáno 2018
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: