Publications by authors named "Eva Gonzalez-Roca"

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The Challenge of Hypophosphatasia Diagnosis in Patients with Fibromyalgia.
Tamara L Rodríguez-Araya, Anastasia Mocritcaia, Eva González-Roca, María B Busso, Xavier Torres

Med Princ Pract· October 2025

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Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.
Nuria Bonet, Jose M Mascaro, Laura Hurtado-Navarro, Diego Angosto-Bazarra, Jose Luis Callejas-Rubio, Eva Gonzalez-Roca

J Clin Immunol· September 2025

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Normalization dynamics of donor-derived cell-free DNA predicts future kidney transplant rejection.
David Cucchiari, Elena Cuadrado-Payán, Eva Gonzalez-Roca, Ignacio Revuelta, Maria José Ramirez-Bajo

Nephrol Dial Transplant· May 2025

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Implementation of the in-house technique for the determination of donor-derived cell-free DNA in daily clinical practice: Experience from the Hospital Clinic of Barcelona.
Elena Cuadrado-Payán, Eva González-Roca, Diana Rodríguez-Espinosa, Alicia Molina-Andújar, Enrique Montagud-Marrahi

Nefrologia (Engl Ed)· April 2025

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Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about mosaicism.
Jose Manuel Mascaro, Ignasi Rodriguez-Pinto, Gabriela Poza, Anna Mensa-Vilaro, Julian Fernandez-Martin, Eva Gonzalez-Roca

Ann Rheum Dis· December 2023

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Early kinetics of donor-derived cell-free DNA after transplantation predicts renal graft recovery and long-term function.
David Cucchiari, Elena Cuadrado-Payan, Eva Gonzalez-Roca, Ignacio Revuelta, Maria Argudo

Nephrol Dial Transplant· December 2023

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Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Pilar Calmarza, Carlos Lapresta, María Martínez García, José Ochoa, Paula Sienes Bailo

J Bone Miner Metab· September 2023

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Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
Pilar Peris, Ana Monegal, Riikka E Mäkitie, Nuria Guañabens, Eva González-Roca

Osteoporos Int· February 2023

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Chilblains outbreak during COVID-19 pandemic: A Type-I interferonopathy?
Anna Mensa-Vilaró, Asunción Vicente, Marta Español-Rego, Jordi Antón, Virginia Fabregat

Pediatr Allergy Immunol· October 2022

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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Teresa Ximelis, Alba Marín-Moreno, Juan Carlos Espinosa, Hasier Eraña, Jorge M Charco

Alzheimers Res Ther· October 2021

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Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR.
José Luis Villanueva-Cañas, Eva Gonzalez-Roca, Aitor Gastaminza Unanue, Esther Titos, Miguel Julián Martínez Yoldi

PLoS One· July 2021

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Similarities and differences between the immunopathogenesis of COVID-19-related pediatric multisystem inflammatory syndrome and Kawasaki disease.
Ana Esteve-Sole, Jordi Anton, Rosa Maria Pino-Ramirez, Judith Sanchez-Manubens, Victoria Fumadó

J Clin Invest· March 2021

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Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.
Roger Esmel-Vilomara, Susana Hernández, Ariadna Campos-Martorell, Eva González-Roca, Diego Yeste

J Clin Res Pediatr Endocrinol· March 2020

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Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
Guillem de Valles-Ibáñez, Ana Esteve-Solé, Mònica Piquer, E Azucena González-Navarro, Jessica Hernandez-Rodriguez

Front Immunol· June 2019

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Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
Raquel Rabionet, Agustín Remesal, Anna Mensa-Vilaró, Sara Murías, Rosa Alcobendas

Sci Rep· March 2019

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Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Anna Mensa-Vilaró, María Bravo García-Morato, Oscar de la Calle-Martin, Clara Franco-Jarava, María Teresa Martínez-Saavedra

J Allergy Clin Immunol· January 2019

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Incidence of Mutations in the , , and Genes in Patients With Atypical Femoral Fractures.
Pilar Peris, Eva González-Roca, Sebastian C Rodríguez-García, María Del Mar López-Cobo, Ana Monegal

JBMR Plus· January 2019

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Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.
Segundo Bujan-Rivas, Maria Basagaña, Francisca Sena, Maria Méndez, Maria Teresa Dordal, Eva Gonzalez-Roca

Clin Exp Rheumatol· February 2018

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Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
Anna Mensa-Vilaro, María Teresa Bosque, Giuliana Magri, Yoshitaka Honda, Helios Martínez-Banaclocha

Arthritis Rheumatol· December 2016

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Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.
Anna Mensa-Vilaro, Weng Tarng Cham, Swee Ping Tang, Sern Chin Lim, Eva González-Roca

Arthritis Rheumatol· April 2016

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Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.
José Hernández-Rodríguez, Estíbaliz Ruíz-Ortiz, Adrià Tomé, Gerard Espinosa, Eva González-Roca

Autoimmun Rev· January 2016

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Enantioselective Synthesis of Vicinal (R,R)-Diols by Saccharomyces cerevisiae Butanediol Dehydrogenase.
Eduard Calam, Eva González-Roca, M Rosario Fernández, Sylvie Dequin, Xavier Parés

Appl Environ Microbiol· January 2016

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Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
María Del Mar Mañú-Pereira, Eva Gonzalez-Roca, Wouter W van Solinge, Esther Llaudet-Planas, Julián Sevilla

Am J Hematol· December 2015

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Somatic NOD2 mosaicism in Blau syndrome.
Jaime de Inocencio, Anna Mensa-Vilaro, Pilar Tejada-Palacios, Eugenia Enriquez-Merayo, Eva González-Roca

J Allergy Clin Immunol· August 2015

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Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.
Yael Shinar, Tali Tohami, Avi Livneh, Ginette Schiby, Abraham Hirshberg, Eva Gonzalez-Roca

Orphanet J Rare Dis· June 2015

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