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Page 1
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: vengoechea j. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K. Iwata-Otsubo A, et al. Among authors: vengoechea j. Hum Genet. 2024 Mar;143(3):437-453. doi: 10.1007/s00439-024-02656-3. Epub 2024 Mar 23. Hum Genet. 2024. PMID: 38520561
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F. Deb W, et al. Among authors: vengoechea j. Am J Hum Genet. 2024 Jul 11;111(7):1352-1369. doi: 10.1016/j.ajhg.2024.05.016. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866022
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
Clustering COVID-19 ARDS patients through the first days of ICU admission. An analysis of the CIBERESUCICOVID Cohort.
Ceccato A, Forne C, Bos LD, Camprubí-Rimblas M, Areny-Balagueró A, Campaña-Duel E, Quero S, Diaz E, Roca O, De Gonzalo-Calvo D, Fernández-Barat L, Motos A, Ferrer R, Riera J, Lorente JA, Peñuelas O, Menendez R, Amaya-Villar R, Añón JM, Balan-Mariño A, Barberà C, Barberán J, Blandino-Ortiz A, Boado MV, Bustamante-Munguira E, Caballero J, Carbajales C, Carbonell N, Catalán-González M, Franco N, Galbán C, Gumucio-Sanguino VD, de la Torre MDC, Estella Á, Gallego E, García-Garmendia JL, Garnacho-Montero J, Gómez JM, Huerta A, Jorge-García RN, Loza-Vázquez A, Marin-Corral J, Martínez de la Gándara A, Martin-Delgado MC, Martínez-Varela I, Messa JL, Muñiz-Albaiceta G, Nieto MT, Novo MA, Peñasco Y, Pozo-Laderas JC, Pérez-García F, Ricart P, Roche-Campo F, Rodríguez A, Sagredo V, Sánchez-Miralles A, Sancho-Chinesta S, Socias L, Solé-Violan J, Suarez-Sipmann F, Tamayo-Lomas L, Trenado J, Úbeda A, Valdivia LJ, Vidal P, Bermejo J, Gonzalez J, Barbe F, Calfee CS, Artigas A, Torres A; CIBERESUCICOVID Project. Ceccato A, et al. Crit Care. 2024 Mar 21;28(1):91. doi: 10.1186/s13054-024-04876-5. Crit Care. 2024. PMID: 38515193 Free PMC article.
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
Procalcitonin and C-reactive protein to rule out early bacterial coinfection in COVID-19 critically ill patients.
Galli F, Bindo F, Motos A, Fernández-Barat L, Barbeta E, Gabarrús A, Ceccato A, Bermejo-Martin JF, Ferrer R, Riera J, Peñuelas O, Lorente JÁ, de Gonzalo-Calvo D, Menéndez R, Gonzalez J, Misuraca S, Palomeque A, Amaya-Villar R, Añón JM, Balan Mariño A, Barberà C, Barberán J, Blandino Ortiz A, Bustamante-Munguira E, Caballero J, Cantón-Bulnes ML, Carbajales Pérez C, Carbonell N, Catalán-González M, de Frutos R, Franco N, Galbán C, Lopez Lago A, Gumucio-Sanguino VD, de la Torre MDC, Díaz E, Estella Á, Gallego Curto E, García-Garmendia JL, Gómez JM, Huerta A, Jorge García RN, Loza-Vázquez A, Marin-Corral J, Martin Delgado MC, Martínez de la Gándara A, Martínez Varela I, Lopez Messa J, M Albaiceta G, Nieto MT, Novo MA, Peñasco Y, Pérez-García F, Pozo-Laderas JC, Ricart P, Sagredo V, Sánchez-Miralles A, Sancho Chinesta S, Roche-Campo F, Socias L, Solé-Violan J, Suarez-Sipmann F, Tamayo Lomas L, Trenado J, Úbeda A, Valdivia LJ, Vidal P, Boado MV, Rodríguez A, Antonelli M, Blasi F, Barbé F, Torres A; CIBERESUCICOVID Project investigators (COV20/00110, ISCIII). Galli F, et al. Intensive Care Med. 2023 Aug;49(8):934-945. doi: 10.1007/s00134-023-07161-1. Epub 2023 Jul 28. Intensive Care Med. 2023. PMID: 37507573 Free PMC article.
Key Factors Associated With Pulmonary Sequelae in the Follow-Up of Critically Ill COVID-19 Patients.
González J, de Batlle J, Benítez ID, Torres G, Santisteve S, Targa ADS, Gort-Paniello C, Moncusí-Moix A, Aguilà M, Seck F, Ceccato A, Ferrer R, Motos A, Riera J, Fernández L, Menéndez R, Lorente JÁ, Peñuelas O, Garcia-Gasulla D, Peñasco Y, Ricart P, Abril Palomares E, Aguilera L, Rodríguez A, Boado Varela MV, Beteré B, Pozo-Laderas JC, Solé-Violan J, Salvador-Adell I, Novo MA, Barberán J, Amaya Villar R, Garnacho-Montero J, Gómez JM, Blandino Ortiz A, Tamayo Lomas L, Úbeda A, Catalán-González M, Sánchez-Miralles A, Martínez Varela I, Jorge García RN, Franco N, Gumucio-Sanguino VD, Bustamante-Munguira E, Valdivia LJ, Caballero J, Gallego E, Rodríguez C, Castellanos-Ortega Á, Trenado J, Marin-Corral J, Albaiceta GM, de la Torre MDC, Loza-Vázquez A, Vidal P, Añón JM, Carbajales Pérez C, Sagredo V, Carbonell N, Socias L, Barberà C, Estella A, Diaz E, de Gonzalo-Calvo D, Torres A, Barbé F; CIBERESUCICOVID Project. González J, et al. Arch Bronconeumol. 2023 Apr;59(4):205-215. doi: 10.1016/j.arbres.2022.12.017. Epub 2023 Jan 7. Arch Bronconeumol. 2023. PMID: 36690515 Free PMC article.
51 results