檢索結果 - Sixto García‐Miñaúr

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

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

    出版 2014
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  2. 2
    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum 由 María López, A. García Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García‐Miñaúr, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez-Garrido

    出版 2018
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  3. 3
    A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

    A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome 由 Sonja A. de Munnik, Sixto García‐Miñaúr, Alexander Hoischen, Bregje W.M. van Bon, Kym M. Boycott, Jeroen Schoots, Lies H. Hoefsloot, Nine Knoers, Ernie M.H.F. Bongers, Han G. Brunner

    出版 2013
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  4. 4
    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review 由 Luís Fernández, Julián Nevado, Fernando Santos, Damián Heine‐Suñer, Víctor Martínez‐Glez, Sixto García‐Miñaúr, R. Garrido Palomo, Alicia Delicado, I. López Pajares, María Palomares‐Bralo, Luis García‐Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina

    出版 2009
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  5. 5
    New microdeletion and microduplication syndromes: a comprehensive review

    New microdeletion and microduplication syndromes: a comprehensive review 由 Julián Nevado, Rafaella Mergener, María Palomares‐Bralo, Karen Regina de Souza, Elena Vallespín, Rocío Mena, Víctor Martínez‐Glez, María Ángeles Mori, Fernando Santos, Sixto García‐Miñaúr, Fe Amalia García‐Santiago, Elena Mansilla, Luís Fernández, María Torres, Mariluce Riegel, Pablo Lapunzina

    出版 2014
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  6. 6
    Toward the effective surveillance of hypospadias.

    Toward the effective surveillance of hypospadias. 由 Helen Dolk, Martine Vrijheid, J. E. Scott, Marie‐Claude Addor, Bev Botting, Catherine De Vigan, Hermien E. K. de Walle, Ester Garne, Maria Loane, Anna Pierini, Sixto García‐Miñaúr, Nigel Physick, Romano Tenconi, Awi Wiesel, Elisa Calzolari, David H. Stone

    出版 2003
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  7. 7
    Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

    Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism 由 Valeria Romanelli, Julián Nevado, Mario F. Fraga, Alejandro Martin Trujillo, M. A. Mori, Luis Carlos Sainz Fernandez, Guiomar Pérez de Nanclares, Víctor Martínez‐Glez, Guillermo Pita, H. Meneses, R Gracia, Sixto García‐Miñaúr, Purificación García de Miguel, Beatriz Lecumberri, José Ignacio Rodrı́guez, Anna González‐Neira, David Monk, Pablo Lapunzina

    出版 2010
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  8. 8
    Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

    Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions 由 Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, T. Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto García‐Miñaúr, M. Cristina Digilio, Bruno Marino, Beverly G. Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald‐McGinn

    出版 2023
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  9. 9
    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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  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 由 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

    出版 2017
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  11. 11
    Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

    Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants 由 Beatriz Paumard‐Hernández, Julia Berges‐Soria, Eva Barroso, Carlos I Rivera-Pedroza, Virginia Pérez‐Carrizosa, Sara Benito‐Sanz, Eva López-Messa, Fernando Santos, I. García‐Recuero, A. Romance, Juliana María Ballesta-Martínez, Vanesa López‐González, Ángel Campos‐Barros, Jaime Cruz‐Rojo, Encarna Guillén‐Navarro, Jaime Sánchez del Pozo, Pablo Lapunzina, Sixto García‐Miñaúr, Karen E. Heath

    出版 2014
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  12. 12
    Practical guidelines for managing adults with 22q11.2 deletion syndrome

    Practical guidelines for managing adults with 22q11.2 deletion syndrome 由 Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W.C. Chow, Brian Hon‐Yin Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García‐Miñaúr, Susan R. George, Anthony E. Lang, Gabriela M. Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Thérèse van Amelsvoort, Donna M. McDonald‐McGinn, Anne S. Bassett

    出版 2015
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  13. 13
    Genotype and phenotype spectrum of NRAS germline variants

    Genotype and phenotype spectrum of NRAS germline variants 由 Franziska Altmüller, Christina Lißewski, Débora Romeo Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G. Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M. White, Marena R. Niewisch, Sixto García‐Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker

    出版 2017
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  14. 14
    CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype 由 Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo, Sixto García‐Miñaúr, Fernando Santos‐Simarro, Noelia Agrá, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín‐Arenas, Ángela del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda‐Arenas, María Vanessa Pérez-Gómez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L. Ruiz‐Pérez, Julián Nevado, Pablo Lapunzina, Juan Carlos López‐Gutiérrez, Víctor Martínez‐Glez

    出版 2018
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  15. 15
    Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

    Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation t... 由 Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Marta Gil, Ignacio Bernabéu, José M Díaz-Grande, Lourdes Rey‐Cordo, Gema Ariceta, Itxaso Rica, José Luis Gálvez-Nieto, Ramón Vilalta, Loreto Martorell, Jaime Vila-Cots, F. Aleixandre, Ana Fontalba, Leandro Soriano‐Guillén, José Miguel García‐Sagredo, Sixto García‐Miñaúr, Berta Rodríguez, Saioa Juaristi, Carmen García-Pardos, Antonio Martínez-Peinado, José M. Millán, Ana Medeira, Oana Moldovan, Angeles Fernandez, Lourdes Loidi

    出版 2011
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  16. 16
    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

    Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A 由 Eyal Reinstein, Sophia Frentz, Tim Morgan, Sixto García‐Miñaúr, Richard J. Leventer, George McGillivray, Mitchel Pariani, Anthony van der Steen, Michael Pope, Muriel Holder‐Espinasse, Richard H. Scott, Elizabeth M. Thompson, Terry Robertson, Brian Coppin, Robert J. Siegel, Montserrat Bret Zurita, José Ignacio Rodrı́guez, Carmen del Rocío Monedero Morales, Yuri Blanc Rodrigues, Joaquín Arcas, Anand Saggar, Margaret A. Horton, Elaine H. Zackai, John M. Graham, David L. Rimoin, Stephen P. Robertson

    出版 2012
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  17. 17
    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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  18. 18
    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

    Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome 由 R. W. Davies, Ania Fiksinski, Elemi Breetvelt, Nigel Williams, Stephen R. Hooper, Thomas Monfeuga, Anne S. Bassett, Michael J. Owen, Raquel E. Gur, Bernice E. Morrow, Donna M. McDonald‐McGinn, Ann Swillen, Eva W.C. Chow, Marianne B. M. van den Bree, Beverly S. Emanuel, Joris Vermeesch, Thérèse van Amelsvoort, Celso Arango, Marco Armando, Linda Campbell, Joseph F. Cubells, Stéphan Eliez, Sixto García‐Miñaúr, Doron Gothelf, Wendy R. Kates, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Nicole Philip, Gabriela M. Repetto, Vandana Shashi, Tony J. Simon, Damián Heine‐Suñer, Stefano Vicari, Stephen W. Scherer, Carrie E. Bearden, Jacob Vorstman

    出版 2020
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  19. 19
    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 由 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

    出版 2015
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  20. 20
    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

    <i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity 由 Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert

    出版 2017
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