Editorial: Proceedings of the “Fourth International Conference of the FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy”

著者: Usdin, Karen, Rodriguez-Revenga, Laia, Willemsen, Rob, Hukema, Renate, Giulivi, Cecilia
出版年 Front Mol Biosci (2021)

Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

著者: Larroya, Marta, Tortajada, Marta, Mensión, Eduard, Pauta, Montse, Rodriguez-Revenga, Laia, Borrell, Antoni
出版年 PLoS One (2021)

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

著者: Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia
出版年 Genes (Basel) (2021)

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

著者: Rodriguez-Revenga, Laia, Madrigal, Irene, Pagonabarraga, Javier, Xunclà, Mar, Badenas, Celia, Kulisevsky, Jaime, Gomez, Beatriz, Milà, Montserrat
出版事項 2009

A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

著者: Pauta, Montse, Badenas, Cèlia, Rodriguez-Revenga, Laia, Soler, Anna, Grande, Maribel, Sabrià, Joan, Illanes, Carmen, Borobio, Virginia, Borrell, Antoni
出版年 Front Genet (2021)

A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability

著者: Madrigal, Irene, Alvarez-Mora, Maria Isabel, Rosell, Jordi, Rodríguez-Revenga, Laia, Karlberg, Olof, Sauer, Sascha, Syvänen, Ann-Christine, Mila, Montserrat
出版年 Eur J Hum Genet (2016)

Effect of AGG Interruptions on FMR1 Maternal Transmissions

著者: Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel
出版年 Front Mol Biosci (2020)

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes

著者: Madrigal, Irene, Xunclà, Mar, Tejada, Maria Isabel, Martínez, Francisco, Fernández-Carvajal, Isabel, Pérez-Jurado, Luís Alberto, Rodriguez-Revenga, Laia, Milà, Montserrat
出版事項 2011

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis

著者: Badenas, Celia, Rodríguez-Revenga, Laia, Morales, Carme, Mediano, Carmen, Plaja, Alberto, Pérez-Iribarne, Ma Mar, Soler, Anna, Clusellas, Núria, Borrell, Antoni, Sánchez, Ma Ángeles, Miró, Elisabeth, Sánchez, Aurora, Milà, Montserrat, Jiménez, Wladimiro
出版事項 2010

Associated features in females with an FMR1 premutation

著者: Wheeler, Anne C, Bailey Jr, Donald B, Berry-Kravis, Elizabeth, Greenberg, Jan, Losh, Molly, Mailick, Marsha, Milà, Montserrat, Olichney, John M, Rodriguez-Revenga, Laia, Sherman, Stephanie, Smith, Leann, Summers, Scott, Yang, Jin-Chen, Hagerman, Randi
出版事項 2014

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

著者: Perry, George H., Ben-Dor, Amir, Tsalenko, Anya, Sampas, Nick, Rodriguez-Revenga, Laia, Tran, Charles W., Scheffer, Alicia, Steinfeld, Israel, Tsang, Peter, Yamada, N. Alice, Park, Han Soo, Kim, Jong-Il, Seo, Jeong-Sun, Yakhini, Zohar, Laderman, Stephen, Bruhn, Laurakay, Lee, Charles
出版事項 2008

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

著者: Julián Nevado, Julián Nevado, Julián Nevado, Sixto García-Miñaúr, Sixto García-Miñaúr, Sixto García-Miñaúr, María Palomares-Bralo, María Palomares-Bralo, María Palomares-Bralo, Elena Vallespín, Elena Vallespín, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, Cristina Bel-Fenellós, María Ángeles Mori, María Ángeles Mori, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Jair Antonio Tenorio, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Elena Mansilla, Elena Mansilla, Isabel Vallcorba, Isabel Vallcorba, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
出版事項 2022-04-01