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Page 1
Resources and tools for rare disease variant interpretation.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, Casadio R, Cicconardi A, Facchiano A, Fariselli P, Giordano D, Isidori F, Marabotti A, Martelli PL, Pascarella S, Pinelli M, Pippucci T, Russo R, Savojardo C, Scafuri B, Valeriani L, Capriotti E. Licata L, et al. Among authors: isidori f. Front Mol Biosci. 2023 May 10;10:1169109. doi: 10.3389/fmolb.2023.1169109. eCollection 2023. Front Mol Biosci. 2023. PMID: 37234922 Free PMC article. Review.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: isidori f. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.
Diquigiovanni C, Rizzardi N, Cataldi-Stagetti E, Gozzellino L, Isidori F, Valenti F, Orsini A, Astolfi A, Giangregorio T, Pironi L, Boschetti E, Arrigo S, Maresca A, Magnoni P, Costanzini A, Carelli V, Taniguchi-Ikeda M, Fato R, Bergamini C, De Giorgio R, Bonora E. Diquigiovanni C, et al. Among authors: isidori f. Gastroenterology. 2024 Aug 21:S0016-5085(24)05350-2. doi: 10.1053/j.gastro.2024.08.009. Online ahead of print. Gastroenterology. 2024. PMID: 39173721
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: isidori f. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: isidori f. Eur J Hum Genet. 2024 Aug;32(8):938-946. doi: 10.1038/s41431-024-01615-w. Epub 2024 May 3. Eur J Hum Genet. 2024. PMID: 38702428 Free PMC article.
miRNA-221 and miRNA-483-3p Dysregulation in Esophageal Adenocarcinoma.
Bozzarelli I, Orsini A, Isidori F, Mastracci L, Malvi D, Lugaresi M, Fittipaldi S, Gozzellino L, Astolfi A, Räsänen J, D'Errico A, Rosati R, Fiocca R, Seri M, Krishnadath KK, Bonora E, Mattioli S. Bozzarelli I, et al. Among authors: isidori f. Cancers (Basel). 2024 Jan 30;16(3):591. doi: 10.3390/cancers16030591. Cancers (Basel). 2024. PMID: 38339342 Free PMC article.
Correlations between Molecular Alterations, Histopathological Characteristics, and Poor Prognosis in Esophageal Adenocarcinoma.
Orsini A, Mastracci L, Bozzarelli I, Ferrari A, Isidori F, Fiocca R, Lugaresi M, D'Errico A, Malvi D, Cataldi-Stagetti E, Spaggiari P, Tomezzoli A, Albarello L, Ristimäki A, Bottiglieri L, Krishnadath KK, Rosati R, Fumagalli Romario U, De Manzoni G, Räsänen J, Martinelli G, Mattioli S, Bonora E, On Behalf Of The Eacsge Consortium. Orsini A, et al. Among authors: isidori f. Cancers (Basel). 2023 Feb 23;15(5):1408. doi: 10.3390/cancers15051408. Cancers (Basel). 2023. PMID: 36900206 Free PMC article.
Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.
Bonfiglio F, Legati A, Lasorsa VA, Palombo F, De Riso G, Isidori F, Russo S, Furini S, Merla G, Coppedè F, Tartaglia M; Omics Sciences - Bioinformatics and Epigenetics Working Groups of the Italian Society of Human Genetics (SIGU); Bruselles A, Pippucci T, Ciolfi A, Pinelli M, Capasso M. Bonfiglio F, et al. Among authors: isidori f. Hum Genomics. 2024 Nov 5;18(1):120. doi: 10.1186/s40246-024-00684-8. Hum Genomics. 2024. PMID: 39501379 Free PMC article. Review.
Prevalence and quantitative assessment of macrophages in coronary plaques.
Gatto L, Paoletti G, Marco V, La Manna A, Fabbiocchi F, Cortese B, Vergallo R, Boi A, Fineschi M, Di Giorgio A, Taglieri N, Calligaris G, Budassi S, Burzotta F, Isidori F, Lella E, Ruscica G, Albertucci M, Tamburino C, Ozaki Y, Alfonso F, Arbustini E, Prati F. Gatto L, et al. Among authors: isidori f. Int J Cardiovasc Imaging. 2021 Jan;37(1):37-45. doi: 10.1007/s10554-020-01957-8. Epub 2020 Aug 10. Int J Cardiovasc Imaging. 2021. PMID: 32779079
23 results