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Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: ibanez mico s. Eur J Hum Genet. 2024 Mar;32(3):366. doi: 10.1038/s41431-024-01561-7. Eur J Hum Genet. 2024. PMID: 38355964 Free PMC article. No abstract available.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R. Awamleh Z, et al. Among authors: ibanez mico s. Eur J Hum Genet. 2024 Mar;32(3):324-332. doi: 10.1038/s41431-024-01538-6. Epub 2024 Jan 29. Eur J Hum Genet. 2024. PMID: 38282074 Free PMC article.
Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy.
Araújo-Vilar D, Domingo-Jiménez R, Ruibal Á, Aguiar P, Ibáñez-Micó S, Garrido-Pumar M, Martínez-Olmos MÁ, López-Soler C, Guillín-Amarelle C, González-Rodríguez M, Rodríguez-Núñez A, Álvarez-Escudero J, Liñares-Paz M, González-Méndez B, Rodríguez-García S, Sánchez-Iglesias S. Araújo-Vilar D, et al. Eur J Hum Genet. 2018 Mar;26(3):396-406. doi: 10.1038/s41431-017-0052-8. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367704 Free PMC article.
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O, Yubero D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, García-Cazorla À, Pías-Peleteiro L, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch R, Pérez B. Sánchez-Lijarcio O, et al. Clin Genet. 2022 Jul;102(1):40-55. doi: 10.1111/cge.14138. Epub 2022 Apr 15. Clin Genet. 2022. PMID: 35388452 Free PMC article.
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
Parrado A, Rubio G, Serrano M, De la Morena-Barrio ME, Ibáñez-Micó S, Ruiz-Lafuente N, Schwartz-Albiez R, Esteve-Solé A, Alsina L, Corral J, Hernández-Caselles T. Parrado A, et al. Glycobiology. 2022 Mar 19;32(2):84-100. doi: 10.1093/glycob/cwab087. Glycobiology. 2022. PMID: 34420056
Efficacy and tolerability of lacosamide in the concomitant treatment of 130 patients under 16 years of age with refractory epilepsy: a prospective, open-label, observational, multicenter study in Spain.
Casas-Fernández C, Martínez-Bermejo A, Rufo-Campos M, Smeyers-Durá P, Herranz-Fernández JL, Ibáñez-Micó S, Campistol-Plana J, Alarcón-Martínez H, Campos-Castelló J. Casas-Fernández C, et al. Drugs R D. 2012 Dec 1;12(4):187-97. doi: 10.2165/11636260-000000000-00000. Drugs R D. 2012. PMID: 23193979 Free PMC article. Clinical Trial.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
34 results