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Page 1
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: arberas c. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Correa Brito L, Keselman A, Villegas F, Scaglia P, Esnaola Azcoiti M, Castro S, Sanguineti N, Izquierdo A, Maier M, Bergadá I, Arberas C, Rey RA, Ropelato MG. Correa Brito L, et al. Among authors: arberas c. Front Genet. 2024 Mar 11;15:1354715. doi: 10.3389/fgene.2024.1354715. eCollection 2024. Front Genet. 2024. PMID: 38528912 Free PMC article.
Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss.
Bernardi MT, Ramzan M, Calderon L, Salvatore F, De Rosa MA, Bivona S, Armando R, Vazquez N, Azcoiti ME, Marti MA, Arberas C, Ropelato MG, Olha S, Lam BL, Telischi FF, Tekin M, Walz K. Bernardi MT, et al. Among authors: arberas c. Adv Genet (Hoboken). 2024 Dec 5;5(4):2400040. doi: 10.1002/ggn2.202400040. eCollection 2024 Dec. Adv Genet (Hoboken). 2024. PMID: 39734360 Free PMC article.
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cardoso LCA, Parra A, Gil CR, Arias P, Gallego N, Romanelli V, Kantaputra PN, Lima L, Llerena Júnior JC, Arberas C, Guillén-Navarro E, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Cardoso LCA, et al. Among authors: arberas c. Cancers (Basel). 2022 Aug 5;14(15):3807. doi: 10.3390/cancers14153807. Cancers (Basel). 2022. PMID: 35954470 Free PMC article.
A few challenges in mucopolysaccharidosis type I.
Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber N, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Among authors: arberas c. Arch Argent Pediatr. 2021 Jun;119(3):e193-e201. doi: 10.5546/aap.2021.e193. Arch Argent Pediatr. 2021. PMID: 34033424 Free article. English, Spanish.
39 results