Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations
Casas‐Alba, Dídac, Martínez‐Monseny, Antonio, Pino‐Ramírez, Rosa M., Alsina, Laia, Castejón, Esperanza, Navarro‐Vilarrubí, Sergi, Pérez‐Dueñas, Belén, Serrano, Mercedes, Palau, Francesc, García‐Alix, Alfredo
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
Get full text
Journal Article
Targeted therapy with galantamine in a pediatric patient with 15q13.3 deletion syndrome
Casas‐Alba, Dídac, Nolasco, Gregorio Alexander, Díez‐Juan, María, Mezzatesta, Marcela, Balañá, Gemma, Fons, Carmen
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
Get full text
Journal Article
Okur‐Chung neurodevelopmental syndrome in a patient from Spain
Martinez‐Monseny, Antonio F., Casas‐Alba, Dídac, Arjona, César, Bolasell, Mercè, Casano, Paula, Muchart, Jordi, Ramos, Federico, Martorell, Loreto, Palau, Francesc, García‐Alix, Alfredo, Serrano, Mercedes
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
Get full text
Journal Article
Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
Casas‐Alba, Dídac, López‐Sala, Laura, Pérez‐Ordóñez, Marta, Mari‐Vico, Rosanna, Bolasell, Mercè, Martínez‐Monseny, Antonio F., Muchart, Jordi, Fernández‐Fernández, José M., Martorell, Loreto, Serrano, Mercedes
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
Get full text
Journal Article
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Lourdes, Vega-Hanna, Mario, Sanz-Cuesta, Didac, Casas-Alba, Mercè, Bolasell, Loreto, Martorell, Leticia, Pías, Lucia, Feller Ana, Martínez-Monseny, Antonio Federico, Mercedes, Serrano
Published in Frontiers in pediatrics (13.06.2023)
Published in Frontiers in pediatrics (13.06.2023)
Get full text
Journal Article
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome
Casas-Alba, Dídac, Darling, Alejandra, Caballero, Eva, Mensa-Vilaró, Anna, Bartrons, Joaquim, Antón, Jordi, García-Cazorla, Àngels, Vanderver, Adeline, Armangué, Thaís
Published in Rheumatology (Oxford, England) (11.04.2022)
Published in Rheumatology (Oxford, England) (11.04.2022)
Get full text
Journal Article
Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
Pijuan, Jordi, Vilanova‐Adell, Alba, Casas‐Alba, Dídac, Campistol, Jaume, Hoenicka, Janet, Palau, Francesc
Published in Clinical genetics (01.03.2024)
Published in Clinical genetics (01.03.2024)
Get full text
Journal Article
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel, Pérez-Dueñas, Belén, Jordan, Iolanda, Cambra, Francisco J., Ortigoza-Escobar, Juan D., Muñoz-Almagro, Carmen, Garcia-Cazorla, Angels, Armangué, Thais, Artuch, Rafael
Published in Scientific reports (26.10.2020)
Published in Scientific reports (26.10.2020)
Get full text
Journal Article
Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
Ferri-Rufete, David, López-González, Aitor, Casas-Alba, Dídac, Cuadras, Daniel, Palau, Francesc, Martínez-Monseny, Antonio
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
Get full text
Journal Article
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)
Martínez‐Monseny, Antonio F., Bolasell, Mercè, Callejón‐Póo, Laura, Cuadras, Daniel, Freniche, Verónica, Itzep, Débora C., Gassiot, Susanna, Arango, Pedro, Casas‐Alba, Didac, Morena, Eugenia, Corral, Javier, Montero, Raquel, Pérez‐Cerdá, Celia, Pérez, Belén, Artuch, Rafael, Jaeken, Jaak, Serrano, Mercedes, Velázquez‐Fragua, Ramón, García, Oscar, Gutierrez‐Solana, Luis G, Macaya, Alfons, Pérez‐Dueñas, Belén, Aguilera‐Albesa, Sergio, López, Laura, Miranda, Ma Concepción, Carratala, Francisco, Yoldi, M Eugenia, López‐Laso, Eduardo, Sierra‐Córcoles, Ma Concepción, Sebastián‐García, Irma, Aísa, Eduardo, Cancho‐Candela, Ramon, Carrasco‐Marina, M Llanos, Couce, María L., Roldán, Susana, Muchart, Jordi, Morales, Montserrat, Conde‐Lorenzo, Noemi
Published in Annals of neurology (01.05.2019)
Published in Annals of neurology (01.05.2019)
Get full text
Journal Article
Broadening the spectrum of neonatal hemochromatosis
Casas-Alba, Dídac, Clotet, Jordi, Inarejos, Emilio J, Jou, Cristina, Fons, Carme, Molera, Cristina
Published in The journal of maternal-fetal & neonatal medicine (18.03.2020)
Published in The journal of maternal-fetal & neonatal medicine (18.03.2020)
Get more information
Journal Article
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Brooks, Daniel, Burke, Elizabeth, Lee, Sukyeong, Eble, Tanya N., O’Leary, Melanie, Osei-Owusu, Ikeoluwa, Rehm, Heidi L., Dhar, Shweta U., Emrick, Lisa, Bick, David, Nehrebecky, Michelle, Macnamara, Ellen, Casas-Alba, Dídac, Armstrong, Judith, Prat, Carolina, Martínez-Monseny, Antonio F., Palau, Francesc, Liu, Pengfei, Adams, David, Lalani, Seema, Rosenfeld, Jill A., Burrage, Lindsay C.
Published in Human genetics (01.03.2024)
Published in Human genetics (01.03.2024)
Get full text
Journal Article
Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis
Casas-Alba, Dídac, Valero-Rello, Ana, Muchart, Jordi, Armangué, Thaís, Jordan, Iolanda, Cabrerizo, María, Molero-Luís, Marta, Artuch, Rafael, Fortuny, Claudia, Muñoz-Almagro, Carmen, Launes, Cristian
Published in Pediatric neurology (01.07.2019)
Published in Pediatric neurology (01.07.2019)
Get full text
Journal Article
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
Casas-Alba, Dídac, Aguilar, Anna, Alonso, Itziar, García, María Teresa, Cilio, Maria Roberta, Fons, Carmen, López-Pisón, Javier, Gutiérrez-Solana, Luis, Ferragut, Fernando, Ruiz-Falcó, María Luz, Soto-Insuga, Víctor, González, Elena, Pablos, Tamara, Mas, María José, Hernández, Sara, Vázquez-López, María, Fuentes-Pita, Patricia, Aguilera-Albesa, Sergio, Sánchez-Carpintero, Rocío, Garcia-Puig, Montserrat, García-Navas, Deyanira, Alarcón-Martínez, Helena, González, Candelaria, Calvo, Rocío, Extraviz, Ana, Muchart, Jordi, Palau, Francesc, Armstrong, Judith, Yubero, Dèlia, Valera, Carlos Eduardo, González, Verónica, O'’Callaghan, Mar, Borràs, Ariadna, García-Cazorla, Àngels, Casis, Óscar, Alquiza, Amaia, Rodríguez de Yurre, Ainhoa, Villarroel, Álvaro
Published in Pediatric neurology (01.07.2023)
Published in Pediatric neurology (01.07.2023)
Get full text
Journal Article
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Martínez-Monseny, Antonio F., Edo, Albert, Casas-Alba, Dídac, Izquierdo-Serra, Mercè, Bolasell, Mercè, Conejo, David, Martorell, Loreto, Muchart, Jordi, Carrera, Laura, Ortez, Carlos I., Nascimento, Andrés, Oliva, Baldo, Fernández-Fernández, José M., Serrano, Mercedes
Published in International journal of molecular sciences (13.05.2021)
Published in International journal of molecular sciences (13.05.2021)
Get full text
Journal Article
Extreme Hyperferritinemia in Dizygotic Twins With Human Parechovirus-3 Infection
Casas-Alba, Dídac, Martínez-Monseny, Antonio, Monfort, Laura, Muñoz-Almagro, Carmen, Cabrerizo, María, Deyà, Àngela, Launes, Cristian
Published in The Pediatric infectious disease journal (01.12.2016)
Published in The Pediatric infectious disease journal (01.12.2016)
Get more information
Journal Article
Pseudohypoaldosteronism types I and II: little more than a name in common
Casas-Alba, Dídac, Vila Cots, Jordi, Monfort Carretero, Laura, Martorell Sampol, Loreto, Zennaro, Maria-Christina, Jeunemaitre, Xavier, Camacho Díaz, Juan Antonio
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2017)
Get full text
Journal Article
Pseudoachondroplasia: Descriptions of a de novo and familial case
Casas-Alba, Dídac, Fernández López, Anna, Gean Molins, Esther, Suero Toledano, Patricia, Martínez-Monseny, Antonio
Published in Anales de Pediatría (01.07.2018)
Published in Anales de Pediatría (01.07.2018)
Get full text
Journal Article