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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 2
2009 6
2010 5
2011 2
2012 8
2013 5
2014 1
2015 5
2016 1
2017 4
2018 1
2019 1
2020 2
2021 2
2022 3
2023 6
2024 3

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48 results

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Page 1
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Among authors: orteschi d. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. Among authors: orteschi d. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Zollino M, Lattante S, Orteschi D, Frangella S, Doronzio PN, Contaldo I, Mercuri E, Marangi G. Zollino M, et al. Among authors: orteschi d. Front Neurosci. 2017 Oct 18;11:587. doi: 10.3389/fnins.2017.00587. eCollection 2017. Front Neurosci. 2017. PMID: 29093661 Free PMC article. Review.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Trevisan V, Meroni A, Leoni C, Sirchia F, Politano D, Fiandrino G, Giorgio V, Rigante D, Limongelli D, Perri L, Sforza E, Leonardi F, Viscogliosi G, Contaldo I, Orteschi D, Proietti L, Zampino G, Onesimo R. Trevisan V, et al. Among authors: orteschi d. Genes (Basel). 2024 Mar 8;15(3):346. doi: 10.3390/genes15030346. Genes (Basel). 2024. PMID: 38540405 Free PMC article. Review.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Among authors: orteschi d. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
Pembrolizumab as first-line treatment for metastatic uveal melanoma.
Rossi E, Pagliara MM, Orteschi D, Dosa T, Sammarco MG, Caputo CG, Petrone G, Rindi G, Zollino M, Blasi MA, Cassano A, Bria E, Tortora G, Schinzari G. Rossi E, et al. Among authors: orteschi d. Cancer Immunol Immunother. 2019 Jul;68(7):1179-1185. doi: 10.1007/s00262-019-02352-6. Epub 2019 Jun 7. Cancer Immunol Immunother. 2019. PMID: 31175402 Free PMC article.
Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. Garavelli L, et al. Among authors: orteschi d. Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Am J Med Genet A. 2009. PMID: 19215041 Review.
A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer.
Chiusolo P, Marchetti C, Rossi M, Minnella G, Salutari V, Distefano M, Giammarco S, Metafuni E, Minucci A, Frioni F, Gasbarrino C, Colangelo M, Orteschi D, Fagotti A, Lorusso D, Pagano L, De Stefano V, Scambia G, Sica S. Chiusolo P, et al. Among authors: orteschi d. Am J Hematol. 2022 Nov;97(11):E400-E403. doi: 10.1002/ajh.26697. Epub 2022 Sep 8. Am J Hematol. 2022. PMID: 36054600 Free article. No abstract available.
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
Martello F, Lattante S, Doronzio PN, Conte A, Bisogni G, Orteschi D, Luigetti M, Marrucci MA, Zollino M, Sabatelli M, Marangi G. Martello F, et al. Among authors: orteschi d. Stem Cell Res. 2022 Jul;62:102825. doi: 10.1016/j.scr.2022.102825. Epub 2022 Jun 1. Stem Cell Res. 2022. PMID: 35667216 Free article.
48 results