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Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
Seraphim CE, Canton APM, Montenegro L, Piovesan MR, Macedo DB, Cunha M, Guimaraes A, Ramos CO, Benedetti AFF, de Castro Leal A, Gagliardi PC, Antonini SR, Gryngarten M, Arcari AJ, Abreu AP, Kaiser UB, Soriano-Guillén L, Escribano-Muñoz A, Corripio R, Labarta JI, Travieso-Suárez L, Ortiz-Cabrera NV, Argente J, Mendonca BB, Brito VN, Latronico AC. Seraphim CE, et al. J Clin Endocrinol Metab. 2021 Mar 25;106(4):1041-1050. doi: 10.1210/clinem/dgaa955. J Clin Endocrinol Metab. 2021. PMID: 33383582 Free PMC article.
[Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment].
Ortiz-Cabrera NV, Gavela-Pérez T, Mejorado-Molano FJ, Santillán-Coello JM, Villacampa-Aubá JM, Trujillo-Tiebas MJ, Soriano-Guillén L. Ortiz-Cabrera NV, et al. An Pediatr (Engl Ed). 2021 Jun 10:S1695-4033(21)00183-1. doi: 10.1016/j.anpedi.2021.01.020. Online ahead of print. An Pediatr (Engl Ed). 2021. PMID: 34120870 Free article. Spanish.
[Variability of the clinical expression of KCNB1 encephalopathy].
Púa-Torrejón RC, González-Alguacil E, Soto-Insuga V, Moreno-Cantero T, Ortiz-Cabrera NV, Pérez-Poyato MS, Ruiz Falcó-Rojas ML, García-Peñas JJ. Púa-Torrejón RC, et al. Among authors: ortiz cabrera nv. Rev Neurol. 2021 Nov 16;73(12):403-408. doi: 10.33588/rn.7312.2021267. Rev Neurol. 2021. PMID: 34877642 Free article. Spanish.
Characteristics of epilepsy secondary to mutations in the PNKP gene.
Furones García M, Ortiz Cabrera NV, Soto Insuga V, García Peñas JJ. Furones García M, et al. Among authors: ortiz cabrera nv. Neurologia (Engl Ed). 2021 Nov-Dec;36(9):713-716. doi: 10.1016/j.nrleng.2020.11.013. Epub 2021 Jul 9. Neurologia (Engl Ed). 2021. PMID: 34247972 Free article. No abstract available.
21 results