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Page 1
A case report of apparent mineralocorticoid excess, with nephrological and neurological symptoms since birth, and with a new probably pathogenic variant in HSD11B2 gene.
Hernández Tejedor C, Romero Salas Y, Miramar Gallart MD, Bríngola Moñux AJ, Sánchez Malo MJ, Peña Segura JL. Hernández Tejedor C, et al. Among authors: pena segura jl. Nefrologia (Engl Ed). 2024 Nov-Dec;44(6):904-906. doi: 10.1016/j.nefroe.2024.11.025. Epub 2024 Dec 6. Nefrologia (Engl Ed). 2024. PMID: 39645506 Free article. No abstract available.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Ribeiro-Constante J, Tristán-Noguero A, Martínez Calvo FF, Ibañez-Mico S, Peña Segura JL, Ramos-Fernández JM, Moyano Chicano MDC, Camino León R, Soto Insuga V, González Alguacil E, Valera Dávila C, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Martin-Tamayo Blázquez MDP, Paredes-Carmona F, Marti-Carrera I, Hernández-Fabián A, Tomas Davi M, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan M, Iglesias Santa Polonia FF, Cazorla MR, Ferrando Lucas MT, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Cueto-González AM, Valera Párraga F, Campistol Plana J, Serrano M, Alonso X, Del Castillo-Berges D, Schwartz-Palleja M, Illescas S, Ramírez Camacho A, Sans Capdevila O, García-Cazorla A, Bayés À, Alonso-Colmenero I. Ribeiro-Constante J, et al. Among authors: pena segura jl. Front Cell Dev Biol. 2024 Mar 5;12:1321282. doi: 10.3389/fcell.2024.1321282. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38505260 Free PMC article.
[Atypical growth of an intracranial lipoma].
Moreno-Sánchez A, Salinas-Salvador B, Molina-Herranz D, Peña-Segura JL. Moreno-Sánchez A, et al. Among authors: pena segura jl. Rev Neurol. 2022 Nov 1;75(9):295. doi: 10.33588/rn.7509.2022228. Rev Neurol. 2022. PMID: 36285449 Free PMC article. Spanish.
[Satisfaction surveys on neurofibromatosis type 1 information sheets].
Sánchez Marco SB, López Pisón J, Peña Segura JL, López Lafuente A, Monge Galindo L, Pérez Delgado R. Sánchez Marco SB, et al. Among authors: pena segura jl. J Healthc Qual Res. 2021 Jul-Aug;36(4):240-241. doi: 10.1016/j.jhqr.2021.03.006. Epub 2021 May 8. J Healthc Qual Res. 2021. PMID: 33975814 Spanish. No abstract available.
Bone health impairment in patients with cerebral palsy.
Martínez de Zabarte Fernández JM, Ros Arnal I, Peña Segura JL, García Romero R, Rodríguez Martínez G. Martínez de Zabarte Fernández JM, et al. Among authors: pena segura jl. Arch Osteoporos. 2020 Jun 18;15(1):91. doi: 10.1007/s11657-020-00753-0. Arch Osteoporos. 2020. PMID: 32556612
[Familial MECP2 duplication syndrome].
Gutiérrez-Sánchez AM, Marín-Andrés M, López-Lafuente A, Monge-Galindo L, López-Pisón J, Peña-Segura JL. Gutiérrez-Sánchez AM, et al. Among authors: pena segura jl. Rev Neurol. 2020 Apr 16;70(8):309-310. doi: 10.33588/rn.7008.2019457. Rev Neurol. 2020. PMID: 32242339 Free article. Spanish.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J. Pascual-Alonso A, et al. Among authors: pena segura jl. Clin Genet. 2020 Apr;97(4):610-620. doi: 10.1111/cge.13718. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32043567
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