检索结果 - Ivon Cuscó

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  1. 1
    DNA methylation abnormalities in congenital heart disease

    DNA methylation abnormalities in congenital heart disease 由 Clara Serra‐Juhé, Ivon Cuscó, Aïda Homs, Raquel Flores, Núria Torán, Luis A. Pérez‐Jurado

    出版 2015
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  2. 2
    Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

    Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion 由 Ivon Cuscó, Roser Corominas, Mónica Bayés, Raquel Flores, Núria Rivera‐Bruguès, Victoria Campuzano, Luis A. Pérez‐Jurado

    出版 2008
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  3. 3
    Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy

    Practical guidelines to manage discordant situations of <i>SMN2</i> copy number in patients with spinal muscular atrophy 由 Ivon Cuscó, Sara Bernal, Laura Campello Blasco, Maite Calucho, Laura Alías, Pablo Fuentes‐Prior, Eduardo F. Tizzano

    出版 2020
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  4. 4
    Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders

    Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders 由 Aïda Homs, Marta Codina‐Solà, Benjamín Rodríguez‐Santiago, Cristina M. Villanueva, David Monk, Ivon Cuscó, Luis A. Pérez‐Jurado

    出版 2016
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  5. 5
    Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients

    Beyond copy number: A new, rapid, and versatile method for sequencing the entire <i>SMN2</i> gene in SMA patients 由 Laura Campello Blasco, Ida Paramonov, Jordi Leno-Colorado, Sara Bernal, Laura Alías, Pablo Fuentes‐Prior, Ivon Cuscó, Eduardo F. Tizzano

    出版 2021
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  6. 6
    bigSCale: an analytical framework for big-scale single-cell data

    bigSCale: an analytical framework for big-scale single-cell data 由 Giovanni Iacono, Elisabetta Mereu, Amy Guillaumet-Adkins, Roser Corominas, Ivon Cuscó, Gustavo Rodríguez-Esteban, Marta Gut, Luis A. Pérez‐Jurado, Marta Gut, Holger Heyn

    出版 2018
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  7. 7
    Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency

    Defective minor spliceosome <scp>mRNA</scp> processing results in isolated familial growth hormone deficiency 由 Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Ángel Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A. Chowen, Mikko J. Frilander, Luis A. Pérez‐Jurado

    出版 2014
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  8. 8
    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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  9. 9
    New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

    New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0 由 Vanesa Álvarez-Iglesias, Ana Mosquera‐Miguel, María Cerezo, Beatriz Quintáns, Marı́a T. Zarrabeitia, Ivon Cuscó, M.V. Lareu, O. García, Luis A. Pérez‐Jurado, Ángel Carracedo, Antonio Salas

    出版 2009
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  10. 10
    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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  11. 11
    A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity

    A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity 由 Juan R. González, Alejandro Cáceres, Tõnu Esko, Ivon Cuscó, Marta Puig, Mikel Esnaola, Judith Reina, Valérie Siroux, Emmanuelle Bouzigon, Rachel Nadif, Eva Reinmaa, Lili Milani, Mariona Bustamante, Deborah Jarvis, Josep M. Antó, Jordi Sunyer, Florence Démenais, Manolis Kogevinas, Andres Metspalu, Mario Cáceres, Luis A. Pérez‐Jurado

    出版 2014
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  12. 12
    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings 由 Francesc Rudilla, Clara Franco‐Jarava, Mónica Martínez‐Gallo, Marina García-Prat, Andrea Martín‐Nalda, Jacques G. Rivière, Aina Aguiló‐Cucurull, Laura Mongay, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor‐Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández‐Cancio, Carmen Carreras, José Manuel Vagace, Vicenç García-Patos, Ricardo Pujol‐Borrell, Pere Soler‐Palacín, Roger Colobrán

    出版 2019
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  13. 13
    TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

    TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci 由 Erica E. Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan, Błażej Męczekalski, Karen E. Heath, Vanesa López‐González, María Juliana Ballesta‐Martínez, G Margabanthu, Susan Price, James Greening, Raja Brauner, Irene Valenzuela, Ivon Cuscó, Paula Fernández‐Álvarez, Margaret E. Wierman, Taibo Li, Kasper Lage, Priscila Sales Barroso, Yee-Ming Chan, William F. Crowley, Nicholas Katsanis

    出版 2020
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  14. 14
    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

    Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond 由 Guillem de Valles‐Ibáñez, Ana Esteve‐Solé, M. Piquer, Azucena González-Navarro, Jessica Hernandez‐Rodriguez, Hafid Laayouni, Eva González‐Roca, A.M. Plaza-Martín, Àngela Deyà‐Martínez, Andrea Martín‐Nalda, Mónica Martínez‐Gallo, Marina García-Prat, Lucía del Pino Molina, Ivon Cuscó, Marta Codina‐Solà, Laura Batlle-Masó, Manuel Solís-Moruno, Tomàs Marquès‐Bonet, Elena Bosch, Eduardo López‐Granados, Juan I. Aróstegui, Pere Soler‐Palacín, Roger Colobrán, Jordi Yagüe, Laia Alsina, Manel Juan, Ferrán Casals

    出版 2018
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  15. 15
    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder 由 Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné

    出版 2022
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