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Page 1
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Sivera Mascaró R, García Sobrino T, Horga Hernández A, Pelayo Negro AL, Alonso Jiménez A, Antelo Pose A, Calabria Gallego MD, Casasnovas C, Cemillán Fernández CA, Esteban Pérez J, Fenollar Cortés M, Frasquet Carrera M, Gallano Petit MP, Giménez Muñoz A, Gutiérrez Gutiérrez G, Gutiérrez Martínez A, Juntas Morales R, Ciano-Petersen NL, Martínez Ulloa PL, Mederer Hengstl S, Millet Sancho E, Navacerrada Barrero FJ, Navarrete Faubel FE, Pardo Fernández J, Pascual Pascual SI, Pérez Lucas J, Pino Mínguez J, Rabasa Pérez M, Sánchez González M, Sotoca J, Rodríguez Santiago B, Rojas García R, Turon-Sans J, Vicent Carsí V, Sevilla Mantecón T. Sivera Mascaró R, et al. Among authors: fenollar cortes m. Neurologia (Engl Ed). 2024 Mar 1:S2173-5808(24)00047-6. doi: 10.1016/j.nrleng.2024.02.008. Online ahead of print. Neurologia (Engl Ed). 2024. PMID: 38431252 Free article.
Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.
Peraita-Ezcurra M, Martínez-García M, Ruiz-Pérez VL, Sánchez-Gutiérrez ME, Fenollar-Cortés M, Vélez-Monsalve C, Ramos-Corrales C, Pastor I, Santonja C, Trujillo-Tiebas MJ. Peraita-Ezcurra M, et al. Among authors: fenollar cortes m. Gene. 2012 May 10;499(1):223-5. doi: 10.1016/j.gene.2012.02.030. Epub 2012 Mar 3. Gene. 2012. PMID: 22406498
[Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases].
Fenollar-Cortés M, Lara-Orejas E, González-Meneses A, Ruibal-Francisco JL, Trujillo-Tiebas MJ. Fenollar-Cortés M, et al. An Pediatr (Barc). 2015 Jun;82(6):436-9. doi: 10.1016/j.anpedi.2014.12.008. Epub 2015 Jan 20. An Pediatr (Barc). 2015. PMID: 25616543 Free article. Spanish. No abstract available.
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.
Trujillo-Tiebas MJ, Fenollar-Cortés M, Lorda-Sánchez I, Díaz-Recasens J, Carrillo Redondo A, Ramos-Corrales C, Ayuso C. Trujillo-Tiebas MJ, et al. Among authors: fenollar cortes m. J Assist Reprod Genet. 2009 Aug;26(8):455-60. doi: 10.1007/s10815-009-9339-1. Epub 2009 Sep 30. J Assist Reprod Genet. 2009. PMID: 19789973 Free PMC article.
MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC. San Antonio-Arce V, et al. Among authors: fenollar cortes m. Child Neurol Open. 2016 Apr 4;3:2329048X16630673. doi: 10.1177/2329048X16630673. eCollection 2016 Jan-Dec. Child Neurol Open. 2016. PMID: 28503606 Free PMC article.
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Among authors: fenollar cortes m. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
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