Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertension

por De Gottardi, Andrea, Seijo, Susana, Milá, Montserrat, Alvarez, M Isabel, Bruguera, Miquel, Abraldes, Juan G, Bosch, Jaime, García-Pagán, Juan-Carlos
Publicado 2012

Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

por Gómez-Fernández, Nuria, Castellví-Bel, Sergi, Fernández-Rozadilla, Ceres, Balaguer, Francesc, Muñoz, Jenifer, Madrigal, Irene, Milà, Montserrat, Graña, Begoña, Vega, Ana, Castells, Antoni, Carracedo, Ángel, Ruiz-Ponte, Clara
Publicado 2009

Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles

por Nolin, Sarah L., Glicksman, Anne, Tortora, Nicole, Allen, Emily, Macpherson, James, Mila, Montserrat, Vianna‐Morgante, Angela M., Sherman, Stephanie L., Dobkin, Carl, Latham, Gary J., Hadd, Andrew G.
Publicado 2019

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers

por Torabi, Keyvan, Erola, Pau, Alvarez‐Mora, Maria Isabel, Díaz‐Gay, Marcos, Ferrer, Queralt, Castells, Antoni, Castellví‐Bel, Sergi, Milà, Montserrat, Lozano, Juan José, Miró, Rosa, Ried, Thomas, Ponsa, Immaculada, Camps, Jordi
Publicado 2018

Associated features in females with an FMR1 premutation

por 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
Publicado 2014

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

por 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
Publicado 2014

New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

por Abekhoukh, Sabiha, Sahin, H. Bahar, Grossi, Mauro, Zongaro, Samantha, Maurin, Thomas, Madrigal, Irene, Kazue-Sugioka, Daniele, Raas-Rothschild, Annick, Doulazmi, Mohamed, Carrera, Pilar, Stachon, Andrea, Scherer, Steven, Drula Do Nascimento, Maria Rita, Trembleau, Alain, Arroyo, Ignacio, Szatmari, Peter, Smith, Isabel M., Milà, Montserrat, Smith, Adam C., Giangrande, Angela, Caillé, Isabelle, Bardoni, Barbara
Publicado 2017

Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

por Sáez, Mauricio A., Fernández-Rodríguez, Juana, Moutinho, Catia, Sanchez-Mut, Jose V., Gomez, Antonio, Vidal, Enrique, Petazzi, Paolo, Szczesna, Karolina, Lopez-Serra, Paula, Lucariello, Mario, Lorden, Patricia, Delgado-Morales, Raul, de la Caridad, Olga J., Huertas, Dori, Gelpí, Josep L., Orozco, Modesto, López-Doriga, Adriana, Milà, Montserrat, Perez-Jurado, Luís A., Pineda, Mercedes, Armstrong, Judith, Lázaro, Conxi, Esteller, Manel
Publicado 2016

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

por Trevino, Cristina E., Rounds, J. Christopher, Charen, Krista, Shubeck, Lisa, Hipp, Heather S., Spencer, Jessica B., Johnston, H. Richard, Cutler, Dave J., Zwick, Michael E., Epstein, Michael P., Murray, Anna, Macpherson, James N., Mila, Montserrat, Rodriguez-Revenga, Laia, Berry-Kravis, Elizabeth, Hall, Deborah A., Leehey, Maureen A., Liu, Ying, Welt, Corrine, Warren, Stephen T., Sherman, Stephanie L., Jin, Peng, Allen, Emily G.
Publicado 2021

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

por Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C., Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo
Publicado 2022