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Page 1
[16p11.2 Microdeletion: first report in Argentina].
Tardivo A, Masotto B, Espeche L, Solari AP, Nevado J, Rozental S. Tardivo A, et al. Among authors: solari ap. Arch Argent Pediatr. 2017 Dec 1;115(6):e449-e453. doi: 10.5546/aap.2017.e449. Arch Argent Pediatr. 2017. PMID: 29087133 Free article. Spanish.
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.
Miller SA, Solari AP, Alberto G, Benitez Medina AC, García Ayré BM, Parisini D, Claps A, Taboas M. Miller SA, et al. Among authors: solari ap. Clin Dysmorphol. 2023 Oct 1;32(4):175-179. doi: 10.1097/MCD.0000000000000469. Epub 2023 Aug 3. Clin Dysmorphol. 2023. PMID: 37646730 No abstract available.
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Espeche LD, Solari AP, Mori MÁ, Arenas RM, Palomares M, Pérez M, Martínez C, Lotersztein V, Segovia M, Armando R, Dain LB, Nevado J, Lapunzina P, Rozental S. Espeche LD, et al. Among authors: solari ap. Mol Biol Rep. 2020 Sep;47(9):6863-6878. doi: 10.1007/s11033-020-05743-6. Epub 2020 Sep 13. Mol Biol Rep. 2020. PMID: 32920771
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
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
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.