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Page 1
A novel NONO nonsense variant in a fetus with renal abnormalities.
Rodriguez-Revenga L, Nadal A, Borobio V, Álvarez-Mora MI, Madrigal I, Pauta M, Borrell A. Rodriguez-Revenga L, et al. Among authors: pauta m. Prenat Diagn. 2024 Jan;44(1):77-80. doi: 10.1002/pd.6500. Epub 2023 Dec 18. Prenat Diagn. 2024. PMID: 38110236
La sobreexpresión de FoxO1 en el hígado esta positivamente asociada al grado de daño hepático en pacientes cirróticos.
Fernández-Galán E, Sandalinas S, Macias-Muñoz L, Portolés I, Ribera J, Morales-Romero B, Pauta M, Casals G, Boix L, Jiménez W, Morales-Ruiz M. Fernández-Galán E, et al. Among authors: pauta m. Adv Lab Med. 2023 Aug 4;4(3):227-235. doi: 10.1515/almed-2023-0054. eCollection 2023 Sep. Adv Lab Med. 2023. PMID: 38075172 Free PMC article. Spanish.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Blayney GV, et al. Among authors: pauta m. Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054560 Free PMC article.
Reply.
Borrell A, Paz Y Miño MF, Pauta M, Meler E, Figueras F. Borrell A, et al. Among authors: pauta m. Ultrasound Obstet Gynecol. 2023 Sep;62(3):450-451. doi: 10.1002/uog.26319. Ultrasound Obstet Gynecol. 2023. PMID: 37647043 No abstract available.
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: pauta m. J Clin Med. 2022 Jun 21;11(13):3570. doi: 10.3390/jcm11133570. J Clin Med. 2022. PMID: 35806855 Free PMC article.
38 results