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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: miramar gallart md. 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.
Neurological manifestations of neurofibromatosis type 1: our experience.
Sánchez Marco SB, López Pisón J, Calvo Escribano C, González Viejo I, Miramar Gallart MD, Samper Villagrasa P. Sánchez Marco SB, et al. Among authors: miramar gallart md. Neurologia (Engl Ed). 2022 Jun;37(5):325-333. doi: 10.1016/j.nrleng.2019.05.008. Epub 2021 May 26. Neurologia (Engl Ed). 2022. PMID: 35672119 Free article. Review.
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report.
González-Tarancón R, Salvador-Rupérez E, Miramar Gallart MD, Barroso E, Díez García-Prieto I, Pérez Delgado R, López Pisón J, García Jiménez MC. González-Tarancón R, et al. Among authors: miramar gallart md. Acta Clin Belg. 2022 Feb;77(1):118-121. doi: 10.1080/17843286.2020.1780391. Epub 2020 Jun 16. Acta Clin Belg. 2022. PMID: 32543299
Neurological manifestations of neurofibromatosis type 1: our experience.
Sánchez Marco SB, López Pisón J, Calvo Escribano C, González Viejo I, Miramar Gallart MD, Samper Villagrasa P. Sánchez Marco SB, et al. Among authors: miramar gallart md. Neurologia (Engl Ed). 2022 Jun;37(5):325-333. doi: 10.1016/j.nrl.2019.05.003. Epub 2019 Jul 17. Neurologia (Engl Ed). 2022. PMID: 31326214 Free article. English, Spanish.
Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.
Roche Bueno JC, Arcos Sánchez C, Salgado Álvarez de Sotomayor F, Izquierdo-Álvarez S, Miramar Gallart MD, Solera García J. Roche Bueno JC, et al. Among authors: miramar gallart md. Neurologia (Engl Ed). 2018 Jun;33(5):346-348. doi: 10.1016/j.nrl.2017.02.015. Epub 2017 Apr 18. Neurologia (Engl Ed). 2018. PMID: 28431840 Free article. English, Spanish. No abstract available.
[Clinical impact of translocation t(7;15) (p22;q26) on several family members].
Caballero Pérez V, López-Pisón FJ, Miramar Gallart MD, González Álvarez A, García Jiménez MC. Caballero Pérez V, et al. Among authors: miramar gallart md. An Pediatr (Barc). 2017 Aug;87(2):113-115. doi: 10.1016/j.anpedi.2016.11.003. Epub 2016 Dec 13. An Pediatr (Barc). 2017. PMID: 27986448 Free article. Spanish. No abstract available.
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A. Tavera-Tapia A, et al. Among authors: miramar gallart md. Breast Cancer Res Treat. 2017 Feb;161(3):597-604. doi: 10.1007/s10549-016-4058-7. Epub 2016 Dec 2. Breast Cancer Res Treat. 2017. PMID: 27913932
Phenotype in patients with intellectual disability and pathological results in array CGH.
Caballero Pérez V, López Pisón FJ, Miramar Gallart MD, González Álvarez A, García Jiménez MC, García Iñiguez JP, Orden Rueda C, Gil Hernández I, Fuertes Rodrigo C, Fernando Martínez R, Rodríguez Valle A, Alcaine Villarroya MJ. Caballero Pérez V, et al. Among authors: miramar gallart md. Neurologia. 2017 Nov-Dec;32(9):568-578. doi: 10.1016/j.nrl.2016.03.006. Epub 2016 May 6. Neurologia. 2017. PMID: 27157524 Free article. English, Spanish.
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