E. González-Roca

发表

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

M. Juan, J. Yagüe, Irene Puga, 2013, The Journal of allergy and clinical immunology.

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

J. Yagüe, C. Wouters, E. López-Granados, 2019, The Journal of allergy and clinical immunology.

M. Juan, D. Cuadras, J. Carrillo, 2021 .

M. Juan, D. Cuadras, J. Carrillo, 2021, The Journal of clinical investigation.

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

T. Marquès-Bonet, M. Juan, J. Yagüe, 2018, Front. Immunol..

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

O. Ohara, J. Yagüe, J. Callejas-Rubio, 2015, Annals of the rheumatic diseases.

Enantioselective synthesis of vicinal (R,R)-diols by yeast butanediol dehydrogenase

S. Dequin, X. Parés, J. Biosca, 2019 .

Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle‐Aged Sisters

S. Mumm, M. Whyte, J. Demertzis, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR

J. L. Villanueva-Cañas, J. Puig-Butillé, E. Titos, 2021, PloS one.

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

J. Yagüe, J. Aróstegui, E. Ruíz-Ortiz, 2015, Arthritis & rheumatology.

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

J. Yagüe, J. Campistol, R. Nishikomori, 2015, Pediatric Rheumatology.

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes

J. Yagüe, J. Aróstegui, E. Ruíz-Ortiz, 2013, Annals of the rheumatic diseases.

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

Y. Sharabi, G. Rechavi, J. Aróstegui, 2015, Orphanet Journal of Rare Diseases.

CIAS1 and NOD2 Genes in Adult-onset Still’s Disease

J. Aróstegui, A. Olivé, E. González-Roca, 2014, The Journal of Rheumatology.

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.

J. Yagüe, G. Espinosa, R. Cervera, 2016, Autoimmunity reviews.

Somatic NOD2 mosaicism in Blau syndrome.

J. Yagüe, G. Magri, J. Aróstegui, 2015, The Journal of allergy and clinical immunology.

Brief Report: Late‐Onset Cryopyrin‐Associated Periodic Syndrome Due to Myeloid‐Restricted Somatic NLRP3 Mosaicism

J. Yagüe, T. Heike, H. Martínez-Banaclocha, 2016, Arthritis & rheumatology.

Chilblains outbreak during COVID‐19 pandemic: A Type‐I interferonopathy?

M. Juan, J. Yagüe, Erik Alonso González, 2022, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

N. Guañabens, P. Peris, E. González-Roca, 2022, Osteoporosis International.

Homozygous R136S mutation in PRNP gene causes recessive inherited early onset prion disease

J. Castilla, R. Sánchez-Valle, H. Eraña, 2021 .

Waves of early transcriptional activation and pluripotency program initiation during human preimplantation development

Juan Carlos Izpisua Belmonte, Stéphanie Boué, Herbert Auer, 2011, Development.

[Analysis of cytogenetic abnormalities in squamous cell carcinoma by array comparative genomic hybridization].

S. Serrano, F. Solé, B. Espinet, 2008, Actas dermo-sifiliograficas.

Enantioselective Synthesis of Vicinal (R,R)-Diols by Saccharomyces cerevisiae Butanediol Dehydrogenase

Sylvie Dequin, S. Dequin, X. Parés, 2016, Applied and Environmental Microbiology.

Accurate Expression Profiling of Very Small Cell Populations

R. Gomis, H. Auer, K. Kornacker, 2010, PloS one.

Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures

N. Guañabens, P. Peris, E. González-Roca, 2018, JBMR plus.

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

E. González-Roca, D. Yeste, Roger Esmel-Vilomara, 2020, Journal of clinical research in pediatric endocrinology.

Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease

J. Castilla, R. Sánchez-Valle, H. Eraña, 2021, Alzheimer's research & therapy.

A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency

J. Aróstegui, E. González-Roca, C. Ortega, 2013, Pediatric blood & cancer.

P02-002 - IL36RN mutations in patients with DITRA

E. Ruíz-Ortiz, E. González-Roca, S. Plaza, 2013, Pediatric Rheumatology Online Journal.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

J. Yagüe, J. Aróstegui, E. Ruíz-Ortiz, 2017, Clinical and experimental rheumatology.

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ‐line de novo mutation

H. K. Ploos van Amstel, W. V. van Solinge, R. van Wijk, 2015, American journal of hematology.

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

P. Calmarza, E. González-Roca, P. Sienes Bailo, 2023, Journal of Bone and Mineral Metabolism.

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism

M. López-Guerra, M. Rozman, J. Yagüe, 2023, Annals of the Rheumatic Diseases.

NOD2 mosaicism in Blau syndrome

J. Yagüe, G. Magri, A. Cerutti, 2015, Pediatric Rheumatology.

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

O. Ohara, J. Yagüe, J. Callejas-Rubio, 2015, Annals of the rheumatic diseases.