檢索結果 - Blanca Gener

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  1. 1
    Brachydactyly E: isolated or as a feature of a syndrome

    Brachydactyly E: isolated or as a feature of a syndrome 由 Arrate Pereda, Intza Garin, María García‐Barcina, Blanca Gener, Elena Beristain, Ane Miren Ibáñez, Guiomar Pérez de Nanclares

    出版 2013
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  2. 2
    Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder 由 Ivon Cuscó, Aida Medrano, Blanca Gener, Mireia Vilardell, F. Gallastegui, Olaya Villa, Eva González‐Roca, Benjamín Rodríguez‐Santiago, Elisabet Vilella, Miguel Del Campo, Luis A. Pérez‐Jurado

    出版 2009
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  3. 3
    Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome 由 Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach, Ha Trang, Loïc de Pontual, Blanca Gener, Delphine Trochet, Heather Etchevers, Pierre F. Ray, Michel Simonneau, Michel Vekemans, Arnold Münnich, Claude Gaultier, Stanislas Lyonnet

    出版 2003
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  4. 4
    Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial

    Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial 由 Arantza Infante, Blanca Gener, Miguél Vázquez, Nerea Olivares, Arantza Arrieta, Gema Grau, Isabel Llano‐Rivas, Luís Madero, Ana M. Bueno, Belén Sagastizábal, Daniela Gerovska, Marcos J. Araúzo‐Bravo, Itziar Astigarraga, Clara I. Rodrı́guez

    出版 2021
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  5. 5
    Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

    Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders 由 Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Aïda Homs, Javier Santoyo‐López, Maria Rigau, Gemma Aznar-Laín, Miguel Del Campo, Blanca Gener, Elisabeth Gabau, M.P. Botella, Armand Gutiérrez-Arumí, Guillermo Antiñolo, Luis A. Pérez‐Jurado, Ivon Cuscó

    出版 2015
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  6. 6
    Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

    Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 由 Aideen M. McInerney‐Leo, Miriam Schmidts, Claudio R. Cortés, Paul Leo, Blanca Gener, Andrew D. Courtney, Brooke Gardiner, Jessica Harris, Yeping Lu, Mhairi Marshall, Peter Scambler, Philip L. Beales, Matthew A. Brown, Andreas Zankl, Hannah M. Mitchison, Emma L. Duncan, Carol Wicking

    出版 2013
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  7. 7
    Prenatal diagnosis of severe structural congenital malformations in Europe

    Prenatal diagnosis of severe structural congenital malformations in Europe 由 Ester Garne, Maria Loane, Helen Dolk, C. De Vigan, Gioacchino Scarano, David Tucker, Claude Stoll, Blanca Gener, Anna Pierini, Vera Nelen, Christine Rösch, Y. Gillerot, Maria Feijoo‐Cid, Radka Tincheva, Annette Queißer‐Luft, M. C. Addor, Claudia Mosquera, Miriam Gatt, Ingeborg Barišić

    出版 2004
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  8. 8
    Mutations in HPSE2 Cause Urofacial Syndrome

    Mutations in HPSE2 Cause Urofacial Syndrome 由 Sarah B. Daly, Jill Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen M. Stuart, Donnai Dian, David A. Long, Berk Burgu, Özgü Aydoğdu, Murat Derbent, Sixto García‐Miñaúr, William Reardon, Blanca Gener, Stavit A. Shalev, Rupert Smith, Adrian S. Woolf, Graeme Black, William G. Newman

    出版 2010
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  9. 9
    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

    Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability 由 Katrina Tatton‐Brown, Sheila Seal, Elise Ruark, Jenny E. Harmer, Emma Ramsay, Silvana Del Vecchio Duarte, Anna Zachariou, Sandra Hanks, Eleanor M. O’Brien, Lise Aksglæde, Diana Baralle, Tabib Dabir, Blanca Gener, David Goudie, Tessa Homfray, Ajith Kumar, Daniela T. Pilz, Angelo Selicorni, I. Karen Temple, Lionel Van Maldergem, Naomi Yachelevich, Robert van Montfort, Nazneen Rahman

    出版 2014
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  10. 10
    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH 由 Joe Rainger, Hemant Bengani, Lauren Campbell, Eric C. Anderson, K. Sokhi, Wayne Lam, Angelika Rieß, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn J. McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, S. McKay, Hilary G. Morrison, Bethan Medina, Marcus Robertson, Jürgen Kohlhase, Christopher T. Gordon, J M Kirk, Dagmar Wieczorek, David Fitzpatrick

    出版 2012
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  11. 11
    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals 由 Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown

    出版 2019
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  12. 12
    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly 由 Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

    出版 2012
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  13. 13
    The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

    The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil 由 Ligia Pereira Castro, Mourad Sahbatou, Fernanda S. G. Kehdy, Allysson Allan de Farias, Andrey A. Yurchenko, Tiago Antônio de Souza, Reginaldo Cruz Alves Rosa, Celso Teixeira Mendes‐Junior, Víctor Borda, Veridiana Munford, Évelin Aline Zanardo, Samar N. Chehimi, Leslie Domenici Kulikowski, Marla Mendes de Aquino, Thiago Peixoto Leal, Eduardo Tarazona‐Santos, Sulamita Costa Wirth Chaibub, Blanca Gener, Nadège Calmels, Vincent Laugel, Alain Sarasin, Carlos Frederico Martins Menck

    出版 2020
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  14. 14
    LRIG2 Mutations Cause Urofacial Syndrome

    LRIG2 Mutations Cause Urofacial Syndrome 由 Helen M. Stuart, Neil Roberts, Berk Burgu, Sarah B. Daly, Jill Urquhart, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selçuk Sılay, Malcolm Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar, Cem Süer, Tarkan Soygür, Zeynep Birsin Özçakar, Fatoş Yalçınkaya, Aslı Kavaz, Burcu Bulum, Adnan Gücük, Wyatt W. Yue, Fırat Erdoğan, Andrew Berry, Neil A. Hanley, Edward A. McKenzie, Emma Hilton, Adrian S. Woolf, William G. Newman

    出版 2013
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  15. 15
    Primrose syndrome: Characterization of the phenotype in 42 patients

    Primrose syndrome: Characterization of the phenotype in 42 patients 由 Daniela Melis, Daniel R. Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica H. Gerkes, Marrit M. Hitzert, Hanne Hove, Sandra Jansen, Petr Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance T. R. M. Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter D. Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. M. Hennekam

    出版 2020
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  16. 16
    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

    Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation 由 Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa, María‐Isabel Tejada, Patricia G. Wheeler, E Peeters, A.C.J. Gijsbers, Jiddeke M. van de Kamp, Marjolein Kriek, Monique Losekoot, A.J. Broekma, John A. Crolla, Marzia Pollazzon, Mafalda Mucciolo, Eleni Katzaki, Vittoria Disciglio, Maria Immacolata Ferreri, Annabella Marozza, Maria Antonietta Mencarelli, Cinzia Castagnini, Laura Dosa, Francesca Ariani, Francesca Mari, Roberto Canitano, Joussef Hayek, M.P. Botella, Blanca Gener, Marina Mata Adolfo Mínguez, Alessandra Renieri, Claudia Ruivenkamp

    出版 2012
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  17. 17
    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome

    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome 由 Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin–Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus

    出版 2009
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  18. 18
    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals 由 Julián Nevado, Sixto García‐Miñaúr, María Palomares‐Bralo, Elena Vallespín, Encarna Guillén‐Navarro, Jordi Rosell, Cristina Bel‐Fenellós, María Ángeles Mori, Montserrat Milà, Miguel Del Campo, Pilar Barrúz, Fernando Santos‐Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis A. Pérez‐Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Darío Ortigoza‐Escobar, Blanca Gener, Verónica Seidel, Pilar Tirado, Pablo Lapunzina

    出版 2022
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  19. 19
    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants 由 Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglæde, Diana Baralle, Daniela Q.C.M. Barge‐Schaapveld, Moira Blyth, Mieke C. Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valérie Cormier‐Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jørgensen, Sarina G. Kant, Cathy Kirally-Borri, David A. Koolen, Ajith Kumar, Anatália Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury‐Ecob, Daniela T. Pilz, Renata Posmyk, Carlos E. Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter D. Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra‐Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman

    出版 2018
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  20. 20
    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response 由 Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise Brueton, Peter Corry, Isabelle Desguerre, Elisa Fazzi, Àngels García Cazorla, Blanca Gener, Ben C.J. Hamel, Arvid Heiberg, Matthew F. Hunter, Marjo S. van der Knaap, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Daphna Marom, Michael McDermott, William van der Merwe, Simona Orcesi, Julie Prendiville, Magnhild Rasmussen, Stavit A. Shalev, Doriette Soler, Marwan Shinawi, Ronen Spiegel, Tiong Yang Tan, Adeline Vanderver, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B. Stetson, David T. Bonthron, Yanick J. Crow

    出版 2009
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