Resultados da pesquisa - Jair Tenorio

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  1. 1
    Simpson-Golabi-Behmel syndrome types I and II

    Simpson-Golabi-Behmel syndrome types I and II Por Jair Tenorio, Pedro Arias, Víctor Martínez‐Glez, Fernando Santos, Sixto García‐Miñaúr, Julián Nevado, Pablo Lapunzina

    Publicado em 2014
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  2. 2
    Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

    Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults Por Leyre Riancho‐Zarrabeitia, María Teresa García‐Unzueta, Jair Tenorio, J.A. Gómez-Gerique, Víctor L. Ruiz‐Pérez, Karen E. Heath, Pablo Lapunzina, José A. Riancho

    Publicado em 2016
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  3. 3
    Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

    Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH Por Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair Tenorio, Florent Soubrier, Richard C. Trembath, Nicholas W. Morrell

    Publicado em 2022
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  4. 4
    Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years

    Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years Por Alberto M. Borobia, Irene Dapía, Hoi Y. Tong, Pedro Arias, Mario Muñoz, Jair Tenorio, Rafael Hernández, Irene García-García, Gema Gordo, Elena Ramı́rez, Jesús Frías, Pablo Lapunzina, Antonio J. Carcas

    Publicado em 2017
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  5. 5
    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Por Víctor Martínez‐Glez, Eulalia Valencia, José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Jair Tenorio, Verónica Pulido, Uschi Lindert, Marianne Rohrbach, David R. Eyre, Cecilia Giunta, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Publicado em 2011
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  6. 6
    The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances

    The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances Por Ana Monteagudo, José Ramón Hernández Mora, Carlos Simón, Adam Burton, Jair Tenorio, Pablo Lapunzina, Stephen J. Clark, Manel Esteller, Gavin Kelsey, Juan Pedro López‐Siguero, Guiomar Pérez de Nanclares, Maria‐Elena Torres‐Padilla, David Monk

    Publicado em 2020
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  7. 7
    Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

    Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants Por Leila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, Pedro Arias, Natalia Gallego, Valeria Romanelli, Piranit Nik Kantaputra, L.S. Lima, Juan Clinton Llerena Júnior, Claudia Arberas, Encarna Guillén‐Navarro, Julián Nevado, Jair Tenorio, Pablo Lapunzina

    Publicado em 2022
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  8. 8
    A six-attribute classification of geneticmosaicism

    A six-attribute classification of geneticmosaicism Por Víctor Martínez‐Glez, Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez‐Laguna, Marta Feito Rodríguez, R. de Lucas, Luis A. Pérez‐Jurado, Víctor L. Ruiz‐Pérez, Antonio Torrelo, Nancy B. Spinner, Rudolf Happle, Leslie G. Biesecker, Pablo Lapunzina

    Publicado em 2020
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  9. 9
    Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients

    Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients Por Leila C.A. Cardoso, Jair Tenorio, H. Soares Pereira, Maria Angélica de F.D. Lima, Anna Cláudia Evangelista dos Santos, P.S. Faria, Sima Ferman, Héctor N. Seuánez, Julián Nevado, José Carlos Cabral de Almeida, Pablo Lapunzina, Fernando Regla Vargas

    Publicado em 2012
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  10. 10
    <i>mTOR</i> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

    <i>mTOR</i> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review Por Gema Gordo, Jair Tenorio, Pedro Arias, Fernando Santos‐Simarro, Sixto García‐Miñaúr, J.C. Moreno, Julián Nevado, Elena Vallespín, Lara Rodríguez‐Laguna, Rafael Mena‐Osuna, Irene Dapía, María Palomares‐Bralo, Ángela del Pozo, Kristina Ibáñez, Juan Carlos Silla-Castro, Eva Barroso, Víctor L. Ruiz‐Pérez, Víctor Martínez‐Glez, Pablo Lapunzina

    Publicado em 2017
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  11. 11
    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

    Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling Por Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria Lombardi, Jet Bliek, Eamonn R. Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzalès, Karen Grønskov, Zeynep Tümer, David Monk, M. Mannens, Krystyńa Chrzańowska, Malgorzata Krajewska Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E. Moore, Deborah Mackay, I. Karen Temple, Gabriele Gillessen‐Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth M. Algar, Pablo Lapunzina

    Publicado em 2015
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  12. 12
    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

    First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders Por Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Tenorio, Arrate Pereda, Frédéric Brioude, Irène Netchine, Dzhoy Papingi, Elisa De Franco, Margaret Lever, Julie Sillibourne, Paola Lombardi, Véronique Gaston, Maïthé Tauber, Gwénaëlle Diene, Éric Bieth, Luis Carlos Sainz Fernandez, Julián Nevado, Zeynep Tümer, Andrea Riccio, Eamonn R. Maher, Jasmin Beygo, Pierpaola Tannorella, Silvia Russo, Guiomar Pérez de Nanclares, I. Karen Temple, Tsutomu Ogata, Pablo Lapunzina, Thomas Eggermann

    Publicado em 2022
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  13. 13
    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis Por Deborah Mackay, Gabriella Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, I. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, África Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, I. Karen Temple, Katrin Õunap, Andrea Riccio, Guiomar Pérez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    Publicado em 2024
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  14. 14
    Epigenome-wide association study of COVID-19 severity with respiratory failure

    Epigenome-wide association study of COVID-19 severity with respiratory failure Por Manuel Castro de Moura, Verónica Dávalos, Laura Planas‐Serra, Damiana Álvarez‐Errico, Carles Arribas, Montserrat Ruíz, Sergio Aguilera, Jesús Troya, Juan Valencia-Ramos, Valentina Vélez-Santamaría, Agustí Rodríguez‐Palmero, Judit Villar-García, Juan Pablo Horcajada, Sergiu Albu, Carlos Casasnovas, Anna Rull, Laia Reverté, Beatriz Dietl, David Dalmau, María J. Arranz, Laia Llucià‐Carol, Anna M. Planas, Jordi Pérez‐Tur, Israel Fernández‐Cadenas, Paula Villares, Jair Tenorio, Roger Colobrán, Andrea Martín-Nalda, Pere Soler‐Palacín, Francesc Vidal, Aurora Pujol, Manel Esteller

    Publicado em 2021
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  15. 15
    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals Por 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

    Publicado em 2022
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  16. 16
    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

    Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement Por Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert J. Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Małgorzata Krajewska‐Walasek, Christian P. Kratz, E J Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona MacDonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton‐Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. M. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah Mackay, Andrea Riccio, Eamonn R. Maher

    Publicado em 2018
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  17. 17
    First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

    First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease Por Matina Prapa, Mauro Lago‐Docampo, Emilia M. Swietlik, David Montani, Mélanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M.F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano Subías, Henning Gall, Barbara Girerd, Ignacio Hernández‐González, Simon Holden, David Hunt, Samara M.A. Jansen, Wilhelmina S. Kerstjens‐Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina, Joanna Pepke‐Żaba, Gary Polwarth, Gwen Schotte, Jair Tenorio, A. A. Roger Thompson, John Wharton, Stephen J. Wort, Karyn Mégy, Rutendo Mapeta, Carmen Treacy, Jennifer M. Martin, Wei Li, Andrew J. Swift, Paul D. Upton, Nicholas W. Morrell, Stefan Gräf, Diana Valverde

    Publicado em 2022
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  18. 18
    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Por Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina

    Publicado em 2015
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  19. 19
    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

    Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome Por Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci‐Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

    Publicado em 2020
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  20. 20
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome Por Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Publicado em 2018
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