Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders

por Marín, Maria, Ramírez, María José, Aza Carmona, Miriam, Jia, Nan, Ogi, Tomoo, Bogliolo, Massimo, Surrallés, Jordi
Publicado 2019

High content drug screening for Fanconi anemia therapeutics

por Montanuy, Helena, Camps-Fajol, Cristina, Carreras-Puigvert, Jordi, Häggblad, Maria, Lundgren, Bo, Aza-Carmona, Miriam, Helleday, Thomas, Minguillón, Jordi, Surrallés, Jordi
Publicado 2020

NPPB and ACAN, Two Novel SHOX2 Transcription Targets Implicated in Skeletal Development

por Aza-Carmona, Miriam, Barca-Tierno, Veronica, Hisado-Oliva, Alfonso, Belinchón, Alberta, Gorbenko-del Blanco, Darya, Rodriguez, Jose Ignacio, Benito-Sanz, Sara, Campos-Barros, Angel, Heath, Karen E.
Publicado 2014

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

por Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena, Lapunzina, Pablo, Aza-Carmona, Miriam, Heath, Karen E., Asteggiano, Carla Gabriela
Publicado 2022

Clinical consequences of BRCA2 hypomorphism

por Castells-Roca, Laia, Gutiérrez-Enríquez, Sara, Bonache, Sandra, Bogliolo, Massimo, Carrasco, Estela, Aza-Carmona, Miriam, Montalban, Gemma, Muñoz-Subirana, Núria, Pujol, Roser, Cruz, Cristina, Llop-Guevara, Alba, Ramírez, María J., Saura, Cristina, Lasa, Adriana, Serra, Violeta, Diez, Orland, Balmaña, Judith, Surrallés, Jordi
Publicado 2021

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

por Hernández, Gonzalo, Ramírez, María José, Minguillón, Jordi, Quiles, Paco, Ruiz de Garibay, Gorka, Aza-Carmona, Miriam, Bogliolo, Massimo, Pujol, Roser, Prados-Carvajal, Rosario, Fernández, Juana, García, Nadia, López, Adrià, Gutiérrez-Enríquez, Sara, Diez, Orland, Benítez, Javier, Salinas, Mónica, Teulé, Alex, Brunet, Joan, Radice, Paolo, Peterlongo, Paolo, Schindler, Detlev, Huertas, Pablo, Puente, Xose S, Lázaro, Conxi, Pujana, Miquel Àngel, Surrallés, Jordi
Publicado 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado 2018