Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

by Jacques G. Rivière, Jacques G. Rivière, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Andrea Martín-Nalda, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran
Published 2020-02-01

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

by Pere Soler-Palacín, Pere Soler-Palacín, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Clara Franco-Jarava, Clara Franco-Jarava, Jacques G. Rivière, Jacques G. Rivière, Alberto Plaja, Daniela Bezdan, Daniela Bezdan, Mattia Bosio, Mattia Bosio, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Stephan Ossowski, Stephan Ossowski, Stephan Ossowski, Roger Colobran, Roger Colobran, Roger Colobran
Published 2018-10-01

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

by Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin
Published 2019-12-01

Newborn Screening for SCID: Experience in Spain (Catalonia)

by Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín
Published 2021-07-01

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

by Francesc Rudilla, Francesc Rudilla, Clara Franco-Jarava, Clara Franco-Jarava, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina Garcia-Prat, Marina Garcia-Prat, Andrea Martín-Nalda, Andrea Martín-Nalda, Jacques Rivière, Jacques Rivière, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Laura Mongay, Francisco Vidal, Francisco Vidal, Francisco Vidal, Xavier Solanich, Iñaki Irastorza, Juan Luis Santos-Pérez, Jesús Tercedor Sánchez, Ivon Cuscó, Clara Serra, Noelia Baz-Redón, Mónica Fernández-Cancio, Mónica Fernández-Cancio, Carmen Carreras, José Manuel Vagace, Vicenç Garcia-Patos, Ricardo Pujol-Borrell, Ricardo Pujol-Borrell, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran
Published 2019-10-01

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

by Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L. Marín-Soria, Rosa M. López-Galera, Sonia Pajares-García, Jose M. González de Aledo-Castillo, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Judit García-Villoria, Antonia Ribes, Pere Soler-Palacín
Published 2019-10-01

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

by Guillem de Valles-Ibáñez, Ana Esteve-Solé, Ana Esteve-Solé, Mònica Piquer, Mònica Piquer, E. Azucena González-Navarro, E. Azucena González-Navarro, Jessica Hernandez-Rodriguez, Hafid Laayouni, Hafid Laayouni, Eva González-Roca, Eva González-Roca, Ana María Plaza-Martin, Ana María Plaza-Martin, Ángela Deyà-Martínez, Ángela Deyà-Martínez, Andrea Martín-Nalda, Andrea Martín-Nalda, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Marina García-Prat, Marina García-Prat, Lucía del Pino-Molina, Ivón Cuscó, Ivón Cuscó, Marta Codina-Solà, Marta Codina-Solà, Laura Batlle-Masó, Laura Batlle-Masó, Manuel Solís-Moruno, Manuel Solís-Moruno, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Tomàs Marquès-Bonet, Elena Bosch, Eduardo López-Granados, Juan Ignacio Aróstegui, Juan Ignacio Aróstegui, Pere Soler-Palacín, Pere Soler-Palacín, Roger Colobran, Roger Colobran, Roger Colobran, Jordi Yagüe, Jordi Yagüe, Laia Alsina, Laia Alsina, Manel Juan, Manel Juan, Ferran Casals
Published 2018-05-01

Clinical Presentations and Outcomes Related to Tuberculosis in Children Younger Than 2 Years of Age in Catalonia

by Antoni Soriano-Arandes, Silvia Brugueras, Silvia Brugueras, Silvia Brugueras, Alejandro Rodríguez Chitiva, Antoni Noguera-Julian, Antoni Noguera-Julian, Antoni Noguera-Julian, Antoni Noguera-Julian, Àngels Orcau, Àngels Orcau, Andrea Martín-Nalda, Joan P. Millet, Joan P. Millet, Teresa Vallmanya, Maria Méndez, Maite Coll-Sibina, Luis Mayol, Asumpció Clopés, Valentí Pineda, Lourdes García, Nuria López, Olga Calavia, Neus Rius, Tomas M. Pérez-Porcuna, Pere Soler-Palacín, Joan A. Caylà
Published 2019-06-01

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

by Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre
Published 2019-04-01

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

by Mahya Dezfouli, Mahya Dezfouli, Sofia Bergström, Lillemor Skattum, Lillemor Skattum, Hassan Abolhassani, Hassan Abolhassani, Maja Neiman, Monireh Torabi-Rahvar, Clara Franco Jarava, Andrea Martin-Nalda, Juana M. Ferrer Balaguer, Charlotte A. Slade, Charlotte A. Slade, Anja Roos, Luis M. Fernandez Pereira, Margarita López-Trascasa, Luis I. Gonzalez-Granado, Luis M. Allende-Martinez, Yumi Mizuno, Yusuke Yoshida, Vanda Friman, Åsa Lundgren, Asghar Aghamohammadi, Nima Rezaei, Manuel Hernández-Gonzalez, Ulrika von Döbeln, Lennart Truedsson, Toshiro Hara, Shigeaki Nonoyama, Jochen M. Schwenk, Peter Nilsson, Lennart Hammarström
Published 2020-03-01

Epigenome-wide association study of COVID-19 severity with respiratory failure

by Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, Damiana Alvarez-Errico, Carles Arribas, Montserrat Ruiz, Sergio Aguilera-Albesa, Jesús Troya, Juan Valencia-Ramos, Valentina Vélez-Santamaria, Agustí Rodríguez-Palmero, Judit Villar-Garcia, Juan P. Horcajada, Sergiu Albu, Carlos Casasnovas, Anna Rull, Laia Reverte, Beatriz Dietl, David Dalmau, Maria J. Arranz, Laia Llucià-Carol, Anna M. Planas, Jordi Pérez-Tur, Israel Fernandez-Cadenas, Paula Villares, Jair Tenorio, Roger Colobran, Andrea Martin-Nalda, Pere Soler-Palacin, Francesc Vidal, Aurora Pujol, Manel Esteller
Published 2021-04-01

Clinical Outcomes of a Zika Virus Mother–Child Pair Cohort in Spain

by Antoni Soriano-Arandes, Marie Antoinette Frick, Milagros García López-Hortelano, Elena Sulleiro, Carlota Rodó, María Paz Sánchez-Seco, Marta Cabrera-Lafuente, Anna Suy, María De la Calle, Mar Santos, Eugenia Antolin, María del Carmen Viñuela, María Espiau, Ainara Salazar, Borja Guarch-Ibáñez, Ana Vázquez, Juan Navarro-Morón, José-Tomás Ramos-Amador, Andrea Martin-Nalda, Eva Dueñas, Daniel Blázquez-Gamero, Resurrección Reques-Cosme, Iciar Olabarrieta, Luis Prieto, Fernando De Ory, Claire Thorne, Thomas Byrne, Anthony E. Ades, Elisa Ruiz-Burga, Carlo Giaquinto, María José Mellado-Peña, Alfredo García-Alix, Elena Carreras, Pere Soler-Palacín
Published 2020-05-01

Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management

by Silvia Sánchez-Ramón, Arancha Bermúdez, Luis Ignacio González-Granado, Carlos Rodríguez-Gallego, Ana Sastre, Pere Soler-Palacín, the ID-Signal Onco-Haematology Group, Luis Allende, Laia Alsina, Ana María Bielsa, Sara Calleja-Antolín, Carmen Cámara, Javier Carbone, Carmen Carreras, Ana De Andrés Martín, Angela Deyá, Cristina Díaz de Heredia, Romina Dieli-Crimi, José Luis Díez, Nerea Domínguez-Pinilla, Luis Fernández-Pereira, José Mᵃ García, Juana Gil-Herrera, Antonio Gutiérrez, Isidro Jarque, Manel Juan, Francisco Lendínez, Pilar Llobet, Mónica López, Ana López de la Guía, Marcos López-Hoyos, Andrea Martín-Nalda, Mónica Martínez, Josefa Melero, Ana Méndez-Echevarría, Pedro Moral, Olaf Neth, María Núñez, Gonzalo Ocejo-Vinyals, Juliana Ochoa-Grullón, Peter Olbrich, Raquel Oña, Manuel Pérez-Encinas, Jaime Pons, Carmen Rodríguez, Berta Sánchez, Juan Luis Santos-Pérez, Mᵃ Elena Seoane, Alexandru Vlagea
Published 2019-03-01