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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. 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.
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Matamala N, et al. Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: 10.1165/rcmb.2017-0179OC. Am J Respir Cell Mol Biol. 2018. PMID: 29232161 Free 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. 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
Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease.
Gómez-Mariano G, Matamala N, Martínez S, Justo I, Marcacuzco A, Jimenez C, Monzón S, Cuesta I, Garfia C, Martínez MT, Huch M, Pérez de Castro I, Posada M, Janciauskiene S, Martínez-Delgado B. Gómez-Mariano G, et al. Hepatol Int. 2020 Jan;14(1):127-137. doi: 10.1007/s12072-019-10007-y. Epub 2019 Dec 13. Hepatol Int. 2020. PMID: 31832977 Free PMC article.
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. 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. 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
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.
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. Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480. Int J Mol Sci. 2022. PMID: 36012761 Free PMC article.
95 results