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

Year Number of Results
2003 1
2005 4
2006 3
2007 2
2008 3
2010 1
2011 1
2012 2
2013 1
2014 2
2016 3
2017 2
2021 6
2022 1
2023 2
2024 0

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32 results

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Page 1
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: rodriguez de alba m. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Noninvasive prenatal diagnosis of monogenic disorders.
Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Rodríguez de Alba M, et al. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S171-9. doi: 10.1517/14712598.2012.674509. Epub 2012 Apr 16. Expert Opin Biol Ther. 2012. PMID: 22507053 Review.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero F, Martínez-Cayuelas E, Rodilla C, Núñez-Moreno G, Rodríguez de Alba M, Blanco-Kelly F, Romero R, Minguez P, Ayuso C, Lorda-Sanchez I, Corton M, Almoguera B. Martínez-Granero F, et al. Among authors: rodriguez de alba m. Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8. Clin Genet. 2023. PMID: 36719180
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero F, Blanco-Kelly F, Sanchez-Jimeno C, Avila-Fernandez A, Arteche A, Bustamante-Aragones A, Rodilla C, Rodríguez-Pinilla E, Riveiro-Alvarez R, Tahsin-Swafiri S, Trujillo-Tiebas MJ, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Martinez-Granero F, et al. Among authors: rodriguez de alba m. NPJ Genom Med. 2021 Mar 25;6(1):25. doi: 10.1038/s41525-021-00188-7. NPJ Genom Med. 2021. PMID: 33767182 Free PMC article.
Enhanced anti-inflammatory effects of mesenchymal stromal cells mediated by the transient ectopic expression of CXCR4 and IL10.
Hervás-Salcedo R, Fernández-García M, Hernando-Rodríguez M, Quintana-Bustamante O, Segovia JC, Alvarez-Silva M, García-Arranz M, Minguez P, Del Pozo V, de Alba MR, García-Olmo D, Ayuso C, Lamana ML, Bueren JA, Yañez RM. Hervás-Salcedo R, et al. Among authors: de alba mr. Stem Cell Res Ther. 2021 Feb 12;12(1):124. doi: 10.1186/s13287-021-02193-0. Stem Cell Res Ther. 2021. PMID: 33579367 Free PMC article.
32 results