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Page 1
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts MJA, Lanko K, Guzmán-Vega FJ, Jackson A, Ramakrishnan R, Cardona-Londoño KJ, Peña-Guerra KA, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Järvelä I, Lauronen L, Määttä T, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL 2nd, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S; Genomics England Research Consortium; Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS. Weerts MJA, et al. Among authors: montomoli m. Genet Med. 2021 Nov;23(11):2122-2137. doi: 10.1038/s41436-021-01246-2. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345025 Free PMC article.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Among authors: montomoli m. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: montomoli m. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: montomoli m. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Sodium-glucose cotransporter 2 inhibition in primary and secondary glomerulonephritis.
Caravaca-Fontán F, Stevens K, Padrón M, Huerta A, Montomoli M, Villa J, González F, Vega C, López Mendoza M, Fernández L, Shabaka A, Rodríguez-Moreno A, Martín-Gómez A, Labrador PJ, Molina Andújar A, Prados Soler MC, Martín-Penagos L, Yerovi E, Medina Zahonero L, De La Flor JC, Mon C, Ibernon M, Rodríguez Gómez A, Miquel R, Sierra M, Mascarós V, Luzardo L, Papasotiriou M, Arroyo D, Verdalles Ú, Martínez-Miguel P, Ramírez-Guerrero G, Pampa-Saico S, Moral Berrio E, Canga JLP, Tarragón B, Fraile Gómez P, Regidor D, Relea J, Xipell M, Andrades Gómez C, Navarro M, Álvarez Á, Rivas B, Quintana LF, Gutiérrez E, Pérez-Valdivia MÁ, Odler B, Kronbichler A, Geddes C, Anders HJ, Floege J, Fernández-Juárez G, Praga M. Caravaca-Fontán F, et al. Among authors: montomoli m. Nephrol Dial Transplant. 2024 Jan 31;39(2):328-340. doi: 10.1093/ndt/gfad175. Nephrol Dial Transplant. 2024. PMID: 37550217
Neuroimaging in mitochondrial disorders.
Mascalchi M, Montomoli M, Guerrini R. Mascalchi M, et al. Among authors: montomoli m. Essays Biochem. 2018 Jul 20;62(3):409-421. doi: 10.1042/EBC20170109. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 30030366 Review.
Experience with abatacept in refractory lupus nephritis.
Calatayud E, Montomoli M, Ávila A, Sancho Calabuig A, Alegre-Sancho JJ. Calatayud E, et al. Among authors: montomoli m. Rheumatol Int. 2023 Dec;43(12):2319-2326. doi: 10.1007/s00296-023-05389-0. Epub 2023 Aug 31. Rheumatol Int. 2023. PMID: 37650922 Free PMC article. Review.
Anticoagulation in Chronic Kidney Disease.
Montomoli M, Candía BG, Barrios AA, Bernat EP. Montomoli M, et al. Drugs. 2024 Oct;84(10):1199-1218. doi: 10.1007/s40265-024-02077-6. Epub 2024 Aug 9. Drugs. 2024. PMID: 39120783 Review.
63 results