Search Results - Guitart, Miriam

Prader–Willi and Angelman syndromes: genetic counseling by Camprubí, Cristina, Coll, Maria Dolors, Gabau, Elisabeth, Guitart, Míriam

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Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia by Brunet, Anna, Armengol, Lluís, Pelaez, Trini, Guillamat, Roser, Vallès, Vicenç, Gabau, Elisabeth, Estivill, Xavier, Guitart, Miriam

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BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1 by Brunet, Anna, Armengol, Lluís, Heine, Damià, Rosell, Jordi, García-Aragonés, Manel, Gabau, Elisabeth, Estivill, Xavier, Guitart, Miriam

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The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome by Aguilera, Cinthia, Hümmer, Stefan, Masanas, Marc, Gabau, Elisabeth, Guitart, Miriam, Jeyaprakash, A. Arockia, Segura, Miguel F., Santamaria, Anna, Ruiz, Anna

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Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing by Ruiz, Anna, Llort, Gemma, Yagüe, Carmen, Baena, Neus, Viñas, Marina, Torra, Montse, Brunet, Anna, Seguí, Miquel A., Saigí, Eugeni, Guitart, Miriam

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A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion by Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Baena, Neus, San, Joan, Ruiz, Anna, Coll, Maria Dolors, Novell, Ramon, Guitart, Miriam

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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors by Martin-Trujillo, Alex, Vidal, Enrique, Monteagudo-Sánchez, Ana, Sanchez-Delgado, Marta, Moran, Sebastian, Hernandez Mora, Jose Ramon, Heyn, Holger, Guitart, Miriam, Esteller, Manel, Monk, David

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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature by Aguilera, Cinthia, Viñas-Jornet, Marina, Baena, Neus, Gabau, Elisabeth, Fernández, Concepción, Capdevila, Nuria, Cirkovic, Sanja, Sarajlija, Adrijan, Miskovic, Marijana, Radivojevic, Danijela, Ruiz, Anna, Guitart, Miriam

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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome by Aguilera, Cinthia, Gabau, Elisabeth, Laurie, Steve, Baena, Neus, Derdak, Sophia, Capdevila, Núria, Ramirez, Ariadna, Delgadillo, Veronica, García‐Catalan, Maria Jesus, Brun, Carme, Guitart, Miriam, Ruiz, Anna

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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability by Ibarluzea, Nekane, de la Hoz, Ana Belén, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel

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Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes by Boyle, Jennifer, Hawkins, Malcolm, Barton, David E, Meaney, Karen, Guitart, Miriam, O'Grady, Anna, Tobi, Simon, Ramsden, Simon C, Elles, Rob, Gray, Elaine, Metcalfe, Paul, Hawkins, J Ross

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1 by van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.

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High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders by Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Baena, Neus, Ribas-Vidal, Núria, Ruiz, Anna, Torrents-Rodas, David, Gabau, Elisabeth, Vilella, Elisabet, Martorell, Lourdes, Armengol, Lluís, Novell, Ramon, Guitart, Míriam

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Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome by Bueno, Marta, Esteba-Castillo, Susanna, Novell, Ramon, Giménez-Palop, Olga, Coronas, Ramon, Gabau, Elisabeth, Corripio, Raquel, Baena, Neus, Viñas-Jornet, Marina, Guitart, Míriam, Torrents-Rodas, David, Deus, Joan, Pujol, Jesús, Rigla, Mercedes, Caixàs, Assumpta

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum by Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna

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Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain by Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat

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Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders by Thygesen, Johan H., Wolfe, Kate, McQuillin, Andrew, Viñas-Jornet, Marina, Baena, Neus, Brison, Nathalie, D'Haenens, Greet, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Ruiz, Anna, Vermeesch, Joris, Weyts, Eddy, Novell, Ramon, Buggenhout, Griet Van, Strydom, André, Bass, Nick, Guitart, Miriam, Vogels, Annick

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