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2018 1
2019 3
2020 2
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2023 3
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Page 1
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly MG, Korenke GC, Diaw SH, Grözinger A, Cazurro-Gutiérrez A, Pérez-Dueñas B, González V, Macaya A, Serrano Antón AT, Peterlin B, Božović IB, Maver A, Münchau A, Lohmann K. Pauly MG, et al. Among authors: serrano anton at. Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822. Genes (Basel). 2023. PMID: 37107582 Free PMC article. Review.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Among authors: anton ats. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ, Pérez-Fernández V, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Rodríguez-Peña LI, Barreda-Sánchez M, Armengol-Dulcet L, Guillén-Navarro E. Ballesta-Martínez MJ, et al. Among authors: serrano anton at. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. Orphanet J Rare Dis. 2023. PMID: 37480025 Free PMC article. Review.
Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases.
Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta-Martínez MJ, Guillén-Navarro E. Sánchez-Soler MJ, et al. Among authors: serrano anton at. An Pediatr (Engl Ed). 2022 Mar;96(3):253-255. doi: 10.1016/j.anpede.2021.03.005. Epub 2022 Mar 16. An Pediatr (Engl Ed). 2022. PMID: 35305950 Free article. No abstract available.
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Buendía-Martínez J, Barreda-Sánchez M, Rodríguez-Peña L, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Pérez-Tomás ME, Gil-Ferrer R, Avilés-Plaza F, Glover-López G, Carazo-Díaz C, Guillén-Navarro E. Buendía-Martínez J, et al. Among authors: serrano anton at. Orphanet J Rare Dis. 2021 Feb 27;16(1):106. doi: 10.1186/s13023-021-01742-3. Orphanet J Rare Dis. 2021. PMID: 33639982 Free PMC article.
Arthralgias and Articular Hyperlaxitude in Women with Ophthalmopathy and Early Deafness.
Gallo Puelles F, Serrano Anton AT, Lopez Gonzalez V, Hurtado Martinez J. Gallo Puelles F, et al. Among authors: serrano anton at. Reumatol Clin (Engl Ed). 2020 Sep-Oct;16(5 Pt 2):423-425. doi: 10.1016/j.reuma.2018.10.010. Epub 2018 Nov 27. Reumatol Clin (Engl Ed). 2020. PMID: 30497922 Free article. English, Spanish. No abstract available.
[Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases].
Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta-Martínez MJ, Guillén-Navarro E. Sánchez-Soler MJ, et al. Among authors: serrano anton at. An Pediatr (Engl Ed). 2021 May 29:S1695-4033(21)00165-X. doi: 10.1016/j.anpedi.2021.03.010. Online ahead of print. An Pediatr (Engl Ed). 2021. PMID: 34074617 Spanish. No abstract available.
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
Martínez-Romero MC, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Barreda-Sánchez M, Rodriguez-Peña L, Martínez-Menchon MT, Frías-Iniesta J, Sánchez-Pedreño P, Carbonell-Meseguer P, Glover-López G, Guillén-Navarro E; GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia). Martínez-Romero MC, et al. Among authors: serrano anton at. Orphanet J Rare Dis. 2019 Dec 3;14(1):281. doi: 10.1186/s13023-019-1251-x. Orphanet J Rare Dis. 2019. PMID: 31796081 Free PMC article.
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Barreda-Sánchez M, Buendía-Martínez J, Glover-López G, Carazo-Díaz C, Ballesta-Martínez MJ, López-González V, Sánchez-Soler MJ, Rodriguez-Peña L, Serrano-Antón AT, Gil-Ferrer R, Martínez-Romero MDC, Carbonell-Meseguer P, Guillén-Navarro E. Barreda-Sánchez M, et al. Among authors: serrano anton at. Orphanet J Rare Dis. 2019 Feb 26;14(1):59. doi: 10.1186/s13023-019-1031-7. Orphanet J Rare Dis. 2019. PMID: 30808393 Free PMC article.
[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene].
Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta Martínez MJ, Guillén-Navarro E. Sánchez-Soler MJ, et al. Among authors: serrano anton at. An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27. An Pediatr (Engl Ed). 2020. PMID: 31147255 Free article. Spanish. No abstract available.