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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Asif M, Khayyat AIA, Alawbathani S, Abdullah U, Sanner A, Georgomanolis T, Haasters J, Becker K, Budde B, Becker C, Thiele H, Baig SM, Isidoro-García M, Winter D, Pogoda HM, Muhammad S, Hammerschmidt M, Kraft F, Kurth I, Martin HG, Wagner M, Nürnberg P, Hussain MS. Asif M, et al. Among authors: isidoro garcia m. Genet Med. 2024 Apr 16;26(7):101143. doi: 10.1016/j.gim.2024.101143. Online ahead of print. Genet Med. 2024. PMID: 38641995 Free article.
Non-Mammalian Models for Understanding Neurological Defects in RASopathies.
Rodríguez-Martín M, Báez-Flores J, Ribes V, Isidoro-García M, Lacal J, Prieto-Matos P. Rodríguez-Martín M, et al. Among authors: isidoro garcia m. Biomedicines. 2024 Apr 10;12(4):841. doi: 10.3390/biomedicines12040841. Biomedicines. 2024. PMID: 38672195 Free PMC article. Review.
PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Martín-Valbuena J, Gestoso-Uzal N, Justel-Rodríguez M, Isidoro-García M, Marcos-Vadillo E, Lorenzo-Hernández SM, Criado-Muriel MC, Prieto-Matos P. Martín-Valbuena J, et al. Among authors: isidoro garcia m. Childs Nerv Syst. 2024 Jun;40(6):1689-1697. doi: 10.1007/s00381-024-06301-2. Epub 2024 Feb 26. Childs Nerv Syst. 2024. PMID: 38407606 Free PMC article.
Transcriptomics reveals new regulatory mechanisms involved in benralizumab response.
Estravís M, Pérez-Pazos J, Moreno-Jimenez E, Triviño JC, García-Sánchez A, Gómez-García M, Morgado N, Ramos-González J, Gil-Melcón M, Martín-García C, Muñoz-Bellido F, Sanz C, Isidoro-García M, Dávila I. Estravís M, et al. Among authors: isidoro garcia m. Allergy. 2023 Nov;78(11):3023-3026. doi: 10.1111/all.15869. Epub 2023 Aug 28. Allergy. 2023. PMID: 37641395 No abstract available.
Intermediate Molecular Phenotypes to Identify Genetic Markers of Anthracycline-Induced Cardiotoxicity Risk.
Gómez-Vecino A, Corchado-Cobos R, Blanco-Gómez A, García-Sancha N, Castillo-Lluva S, Martín-García A, Mendiburu-Eliçabe M, Prieto C, Ruiz-Pinto S, Pita G, Velasco-Ruiz A, Patino-Alonso C, Galindo-Villardón P, Vera-Pedrosa ML, Jalife J, Mao JH, Macías de Plasencia G, Castellanos-Martín A, Sáez-Freire MDM, Fraile-Martín S, Rodrigues-Teixeira T, García-Macías C, Galvis-Jiménez JM, García-Sánchez A, Isidoro-García M, Fuentes M, García-Cenador MB, García-Criado FJ, García-Hernández JL, Hernández-García MÁ, Cruz-Hernández JJ, Rodríguez-Sánchez CA, García-Sancho AM, Pérez-López E, Pérez-Martínez A, Gutiérrez-Larraya F, Cartón AJ, García-Sáenz JÁ, Patiño-García A, Martín M, Alonso-Gordoa T, Vulsteke C, Croes L, Hatse S, Van Brussel T, Lambrechts D, Wildiers H, Chang H, Holgado-Madruga M, González-Neira A, Sánchez PL, Pérez Losada J. Gómez-Vecino A, et al. Among authors: isidoro garcia m. Cells. 2023 Jul 27;12(15):1956. doi: 10.3390/cells12151956. Cells. 2023. PMID: 37566035 Free PMC article.
Intermediate molecular phenotypes to identify genetic markers of anthracycline-induced cardiotoxicity risk.
Gómez-Vecino A, Corchado-Cobos R, Blanco-Gómez A, García-Sancha N, Castillo-Lluva S, Martín-García A, Mendiburu-Eliçabe M, Prieto C, Ruiz-Pinto S, Pita G, Velasco-Ruiz A, Patino-Alonso C, Galindo-Villardón P, Vera-Pedrosa ML, Jalife J, Mao JH, de Plasencia GM, Castellanos-Martín A, Freire MDMS, Fraile-Martín S, Rodrigues-Teixeira T, García-Macías C, Galvis-Jiménez JM, García-Sánchez A, Isidoro-García M, Fuentes M, García-Cenador MB, García-Criado FJ, García JL, Hernández-García MÁ, Hernández JJC, Rodríguez-Sánchez CA, Martín-Ruiz A, Pérez-López E, Pérez-Martínez A, Gutiérrez-Larraya F, Cartón AJ, García-Sáenz JÁ, Patiño-García A, Martín M, Gordoa TA, Vulsteke C, Croes L, Hatse S, Brussel TV, Lambrechts D, Wildiers H, Hang C, Holgado-Madruga M, González-Neira A, Sánchez PL, Losada JP. Gómez-Vecino A, et al. Among authors: isidoro garcia m. bioRxiv [Preprint]. 2023 Jan 6:2023.01.05.522844. doi: 10.1101/2023.01.05.522844. bioRxiv. 2023. PMID: 36712139 Free PMC article. Updated. Preprint.
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: isidoro garcia m. 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
Identification of Germinal Neurofibromin Hotspots.
Lois S, Báez-Flores J, Isidoro-García M, Lacal J, Triviño JC. Lois S, et al. Among authors: isidoro garcia m. Biomedicines. 2022 Aug 21;10(8):2044. doi: 10.3390/biomedicines10082044. Biomedicines. 2022. PMID: 36009591 Free PMC article.
84 results