Prader–Willi and Angelman syndromes: genetic counseling

gan Camprubí, Cristina, Coll, Maria Dolors, Gabau, Elisabeth, Guitart, Míriam
Cyhoeddwyd 2010

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

gan Brunet, Anna, Armengol, Lluís, Pelaez, Trini, Guillamat, Roser, Vallès, Vicenç, Gabau, Elisabeth, Estivill, Xavier, Guitart, Miriam
Cyhoeddwyd 2008

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

gan Brunet, Anna, Armengol, Lluís, Heine, Damià, Rosell, Jordi, García-Aragonés, Manel, Gabau, Elisabeth, Estivill, Xavier, Guitart, Miriam
Cyhoeddwyd 2009

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

gan Aguilera, Cinthia, Hümmer, Stefan, Masanas, Marc, Gabau, Elisabeth, Guitart, Miriam, Jeyaprakash, A. Arockia, Segura, Miguel F., Santamaria, Anna, Ruiz, Anna
Cyhoeddwyd yn Front Neurosci (2021)

Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

gan Ruiz, Anna, Llort, Gemma, Yagüe, Carmen, Baena, Neus, Viñas, Marina, Torra, Montse, Brunet, Anna, Seguí, Miquel A., Saigí, Eugeni, Guitart, Miriam
Cyhoeddwyd 2014

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

gan Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Baena, Neus, San, Joan, Ruiz, Anna, Coll, Maria Dolors, Novell, Ramon, Guitart, Miriam
Cyhoeddwyd yn Mol Genet Genomic Med (2014)

Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

gan 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
Cyhoeddwyd yn Nat Commun (2017)

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

gan 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
Cyhoeddwyd yn BMC Med Genet (2017)

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

gan 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
Cyhoeddwyd yn Mol Genet Genomic Med (2018)

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

gan 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
Cyhoeddwyd yn Genes (Basel) (2020)

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

gan 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
Cyhoeddwyd 2011

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1

gan 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.
Cyhoeddwyd yn BMC Med Genet (2015)

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

gan 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
Cyhoeddwyd yn Behav Genet (2018)

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome

gan 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
Cyhoeddwyd yn PLoS One (2016)

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

gan 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
Cyhoeddwyd 2014

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

gan 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
Cyhoeddwyd yn Br J Psychiatry (2018)