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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: pachajoa h. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities.
Candelo E, Caicedo G, Rosso F, Ballesteros A, Orrego J, Escobar L, Lapunzina P, Nevado J, Pachajoa H. Candelo E, et al. Among authors: pachajoa h. Appl Clin Genet. 2019 Jul 30;12:141-150. doi: 10.2147/TACG.S190661. eCollection 2019. Appl Clin Genet. 2019. PMID: 31440073 Free PMC article.
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation.
Candelo E, Sanz AM, Ramirez-Montaño D, Diaz-Ordoñez L, Granados AM, Rosso F, Nevado J, Lapunzina P, Pachajoa H. Candelo E, et al. Among authors: pachajoa h. Front Genet. 2021 Mar 19;12:530028. doi: 10.3389/fgene.2021.530028. eCollection 2021. Front Genet. 2021. PMID: 33815457 Free PMC article.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: pachajoa h. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
First Case Report of Prader-Willi-Like Syndrome in Colombia.
Candelo E, Feinstein MM, Ramirez-Montaño D, Gomez JF, Pachajoa H. Candelo E, et al. Among authors: pachajoa h. Front Genet. 2018 Mar 21;9:98. doi: 10.3389/fgene.2018.00098. eCollection 2018. Front Genet. 2018. PMID: 29619043 Free PMC article.
113 results