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

Year Number of Results
2005 1
2012 1
2013 2
2014 4
2015 6
2016 2
2017 2
2018 5
2019 4
2020 4
2021 5
2022 6
2023 6
2024 2

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44 results

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Page 1
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.
Finocchi A, Pacillo L, Chiriaco M, Di Matteo G, Francalanci P, Angelino G, Caldaro T, Rivalta B, O'Mara M, Zhang S, Lepri FR, Novelli A, De Angelis P, Knaus UG, Rea F. Finocchi A, et al. Among authors: lepri fr. Front Genet. 2023 Nov 23;14:1276697. doi: 10.3389/fgene.2023.1276697. eCollection 2023. Front Genet. 2023. PMID: 38075699 Free PMC article.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: lepri fr. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
Guadagnolo D, Mastromoro G, Hashemian NK, Orlando V, Lepri FR, D'Alberti E, Giancotti A, Novelli A, Pizzuti A. Guadagnolo D, et al. Among authors: lepri fr. J Obstet Gynaecol Can. 2023 Aug;45(8):558-559. doi: 10.1016/j.jogc.2023.05.004. Epub 2023 May 17. J Obstet Gynaecol Can. 2023. PMID: 37201580 No abstract available.
The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
Pietrobattista A, Della Volpe L, Francalanci P, Figà Talamanca L, Monti L, Lepri FR, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Veraldi S, Callea F, Novelli A, Maggiore G. Pietrobattista A, et al. Among authors: lepri fr. Genes (Basel). 2023 Mar 17;14(3):739. doi: 10.3390/genes14030739. Genes (Basel). 2023. PMID: 36981010 Free PMC article. Review.
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L. Coccia E, et al. Among authors: lepri fr. Genes (Basel). 2023 Feb 22;14(3):549. doi: 10.3390/genes14030549. Genes (Basel). 2023. PMID: 36980822 Free PMC article.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Carli D, Cardaropoli S, Tessaris D, Coppo P, La Selva R, Cesario C, Lepri FR, Pullano V, Palumbo M, Ramenghi U, Brusco A, Medico E, De Sanctis L, Ferrero GB, Mussa A. Carli D, et al. Among authors: lepri fr. Genes Chromosomes Cancer. 2022 Dec;61(12):740-746. doi: 10.1002/gcc.23092. Epub 2022 Sep 19. Genes Chromosomes Cancer. 2022. PMID: 35999193 Free PMC article.
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1.
Alesi V, Lepri FR, Dentici ML, Genovese S, Sallicandro E, Bejo K, Dallapiccola B, Capolino R, Novelli A, Digilio MC. Alesi V, et al. Among authors: lepri fr. Eur J Hum Genet. 2022 Nov;30(11):1239-1243. doi: 10.1038/s41431-022-01153-3. Epub 2022 Jul 26. Eur J Hum Genet. 2022. PMID: 35879407 Free PMC article.
44 results