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Page 1
Woolly hair in tricho-dento-osseous syndrome.
Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet-Llobet L, Ivars M, Yubero D, Sarig O, Malki L, Peled A, Sprecher E, Baselga E. Perandones-González H, et al. Among authors: yubero d. Pediatr Dermatol. 2023 Nov-Dec;40(6):1094-1096. doi: 10.1111/pde.15309. Epub 2023 Mar 27. Pediatr Dermatol. 2023. PMID: 36973173
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.
Natera-de Benito D, Ortez C, Jou C, Jimenez-Mallebrera C, Codina A, Carrera-García L, Expósito-Escudero J, Cesar S, Martorell L, Gallano P, Gonzalez-Quereda L, Cuadras D, Colomer J, Yubero D, Palau F, Nascimento A. Natera-de Benito D, et al. Among authors: yubero d. Pediatr Neurol. 2021 Feb;115:50-65. doi: 10.1016/j.pediatrneurol.2020.11.002. Epub 2020 Nov 5. Pediatr Neurol. 2021. PMID: 33333461
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou C, Ugarteburu O, Gort L, Yubero D, García-Cazorla A, O'Callaghan M, Campistol J, Muchart J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch R, Ribes A, Urreizti R, Tort F. Muñoz-Pujol G, et al. Among authors: yubero d. Brain Pathol. 2023 May;33(3):e13134. doi: 10.1111/bpa.13134. Epub 2022 Nov 30. Brain Pathol. 2023. PMID: 36450274 Free PMC article.
NGS for Metabolic Disease Diagnosis.
Yubero D, Artuch R. Yubero D, et al. EJIFCC. 2018 Nov 7;29(3):227-229. eCollection 2018 Nov. EJIFCC. 2018. PMID: 30479609 Free PMC article. No abstract available.
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.
Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero D, Fernández-Marmiesse A, O'Callaghan MM, Ortigoza-Escobar JD, Iriondo M, Ruiz-Pesini E, García-Cazorla A, Gil-Campos M, Artuch R, Montoya J, Bayona-Bafaluy MP. Emperador S, et al. Among authors: yubero d. Front Genet. 2020 Jan 8;10:1300. doi: 10.3389/fgene.2019.01300. eCollection 2019. Front Genet. 2020. PMID: 31969900 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency.
Paredes-Fuentes AJ, Julià-Palacios NA, Montero R, Yubero D, Cascajo-Almenara MV, García-Cazorla À, Santos-Ocaña C, Artuch R. Paredes-Fuentes AJ, et al. Among authors: yubero d. Clin Chem. 2020 Nov 1;66(11):1465-1467. doi: 10.1093/clinchem/hvaa202. Clin Chem. 2020. PMID: 33141909 No abstract available.
49 results