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Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B. Baladron B, et al. Among authors: alonso j. Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480. Int J Mol Sci. 2022. PMID: 36012761 Free PMC article.
SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
López-Martín E, Martínez-Delgado B, Bermejo-Sánchez E, Alonso J; SpainUDP Network; Posada M. López-Martín E, et al. Among authors: alonso j. Int J Environ Res Public Health. 2018 Aug 14;15(8):1746. doi: 10.3390/ijerph15081746. Int J Environ Res Public Health. 2018. PMID: 30110963 Free PMC article.
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
Rodríguez-Martín C, Robledo C, Gómez-Mariano G, Monzón S, Sastre A, Abelairas J, Sábado C, Martín-Begué N, Ferreres JC, Fernández-Teijeiro A, González-Campora R, Rios-Moreno MJ, Zaballos Á, Cuesta I, Martínez-Delgado B, Posada M, Alonso J. Rodríguez-Martín C, et al. Among authors: alonso j. J Hum Genet. 2020 Jan;65(2):165-174. doi: 10.1038/s10038-019-0696-z. Epub 2019 Nov 26. J Hum Genet. 2020. PMID: 31772335
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S. Urreizti R, et al. Among authors: alonso j. Orphanet J Rare Dis. 2020 Feb 10;15(1):44. doi: 10.1186/s13023-020-1317-9. Orphanet J Rare Dis. 2020. PMID: 32041641 Free PMC article.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Martinez-Delgado B, et al. Among authors: alonso j. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: 10.1002/ajmg.a.62017. Epub 2020 Dec 21. Am J Med Genet A. 2021. PMID: 33346930
Endoglin and MMP14 Contribute to Ewing Sarcoma Spreading by Modulation of Cell-Matrix Interactions.
Puerto-Camacho P, Díaz-Martín J, Olmedo-Pelayo J, Bolado-Carrancio A, Salguero-Aranda C, Jordán-Pérez C, Esteban-Medina M, Álamo-Álvarez I, Delgado-Bellido D, Lobo-Selma L, Dopazo J, Sastre A, Alonso J, Grünewald TGP, Bernabeu C, Byron A, Brunton VG, Amaral AT, de Álava E. Puerto-Camacho P, et al. Among authors: alonso j. Int J Mol Sci. 2022 Aug 4;23(15):8657. doi: 10.3390/ijms23158657. Int J Mol Sci. 2022. PMID: 35955799 Free PMC article.
CD44 Modulates Cell Migration and Invasion in Ewing Sarcoma Cells.
Fernández-Tabanera E, García-García L, Rodríguez-Martín C, Cervera ST, González-González L, Robledo C, Josa S, Martínez S, Chapado L, Monzón S, Melero-Fernández de Mera RM, Alonso J. Fernández-Tabanera E, et al. Among authors: alonso j. Int J Mol Sci. 2023 Jul 21;24(14):11774. doi: 10.3390/ijms241411774. Int J Mol Sci. 2023. PMID: 37511533 Free PMC article.
EWS-FLI1-mediated suppression of the RAS-antagonist Sprouty 1 (SPRY1) confers aggressiveness to Ewing sarcoma.
Cidre-Aranaz F, Grünewald TG, Surdez D, García-García L, Carlos Lázaro J, Kirchner T, González-González L, Sastre A, García-Miguel P, López-Pérez SE, Monzón S, Delattre O, Alonso J. Cidre-Aranaz F, et al. Among authors: alonso j. Oncogene. 2017 Feb 9;36(6):766-776. doi: 10.1038/onc.2016.244. Epub 2016 Jul 4. Oncogene. 2017. PMID: 27375017
3,603 results