about
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationCharacterization of a (2R,3R)-2,3-butanediol dehydrogenase as the Saccharomyces cerevisiae YAL060W gene product. Disruption and induction of the gene.X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.Accurate expression profiling of very small cell populations.Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.Somatic NOD2 mosaicism in Blau syndromeAutism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.Enantioselective Synthesis of Vicinal (R,R)-Diols by Saccharomyces cerevisiae Butanediol Dehydrogenase.Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.PW02-024-B - First report of AA amyloidosis in Blau syndrome.P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.P02-002 - IL36RN mutations in patients with DITRA.The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients.Somatic NLRP3 mosaicism in Muckle-Wells syndrome.Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients.NOD2 mosaicism in Blau syndrome.The yeast ζ-crystallin/NADPH:quinone oxidoreductase (Zta1p) is under nutritional control by the target of rapamycin pathway and is involved in the regulation of argininosuccinate lyase mRNA half-life.Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency DiseasesCIAS1 and NOD2 Genes in Adult-onset Still’s DiseaseA novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiencyBiallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis[Analysis of cytogenetic abnormalities in squamous cell carcinoma by array comparative genomic hybridization]Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sistersIncidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral FracturesHypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation
P50
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P50
description
researcher ORCID ID = 0000-0002-1126-0321
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wetenschapper
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name
E Gonzalez-Roca
@ast
E Gonzalez-Roca
@en
E Gonzalez-Roca
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type
label
E Gonzalez-Roca
@ast
E Gonzalez-Roca
@en
E Gonzalez-Roca
@nl
prefLabel
E Gonzalez-Roca
@ast
E Gonzalez-Roca
@en
E Gonzalez-Roca
@nl
P106
P31
P496
0000-0002-1126-0321