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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1951 1
1952 3
2004 1
2005 1
2006 3
2007 9
2008 4
2009 6
2010 10
2011 3
2012 4
2013 4
2014 2
2015 2
2016 7
2017 5
2018 3
2019 6
2020 4
2021 5
2022 6
2023 7
2024 2

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87 results

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Page 1
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: madrigal i. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I. Alvarez-Mora MI, et al. Among authors: madrigal i. Genes (Basel). 2023 Mar 28;14(4):813. doi: 10.3390/genes14040813. Genes (Basel). 2023. PMID: 37107571 Free PMC article.
Fragile X syndrome: An overview and update of the FMR1 gene.
Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Mila M, et al. Among authors: madrigal i. Clin Genet. 2018 Feb;93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1. Clin Genet. 2018. PMID: 28617938 Review.
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM, Maas SM, Henneman P, Lip KVD, Venema A, Baranano K, Chassevent A, Aref-Eshghi E, van Essen AJ, Fukuda T, Ikeda H, Jacquemont M, Kim HG, Labalme A, Lewis SME, Lesca G, Madrigal I, Mahida S, Matsumoto N, Rabionet R, Rajcan-Separovic E, Qiao Y, Sadikovic B, Saitsu H, Sweetser DA, Alders M, Mannens MMAM. Krzyzewska IM, et al. Among authors: madrigal i. Clin Epigenetics. 2019 Nov 4;11(1):156. doi: 10.1186/s13148-019-0749-3. Clin Epigenetics. 2019. PMID: 31685013 Free PMC article.
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Potrony M, Borrell A, Masoller N, Nadal A, Rodriguez-Carunchio L, Saez de Gordoa Elizalde K, Quesada-Espinosa JF, Villanueva-Cañas JL, Pauta M, Jodar M, Madrigal I, Badenas C, Alvarez-Mora MI, Rodriguez-Revenga L. Potrony M, et al. Among authors: madrigal i. J Clin Med. 2022 Jun 21;11(13):3570. doi: 10.3390/jcm11133570. J Clin Med. 2022. PMID: 35806855 Free PMC article.
Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Guitart-Mampel M, Garrabou G, Milà M. Alvarez-Mora MI, et al. Among authors: madrigal i. Mol Neurobiol. 2017 Nov;54(9):6896-6902. doi: 10.1007/s12035-016-0194-7. Epub 2016 Oct 22. Mol Neurobiol. 2017. PMID: 27771901
87 results