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

Year Number of Results
2008 1
2011 1
2014 3
2015 3
2016 1
2017 3
2018 3
2019 6
2020 4
2021 2
2022 5
2023 6
2024 3

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39 results

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Page 1
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Graziani L, Nuovo S, Pisaneschi E, Carriero ML, Baghernajad Salehi L, Nardone AM, Manganaro L, Novelli A, D'Apice MR, Mappa I, Novelli G. Graziani L, et al. Among authors: pisaneschi e. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2344718. doi: 10.1080/14767058.2024.2344718. Epub 2024 Apr 28. J Matern Fetal Neonatal Med. 2024. PMID: 38679587 Free article.
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. Dermatology. 2024 Apr 8. doi: 10.1159/000536366. Online ahead of print. Dermatology. 2024. PMID: 38588653
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: pisaneschi e. Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38528056
Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series.
Campi F, De Rose DU, Pugnaloni F, Ronci S, Calì M, Pro S, Longo D, Lucignani G, Raho L, Pisaneschi E, Digilio MC, Savarese I, Bersani I, Amante PG, Conti M, De Liso P, Capolupo I, Braguglia A, Gandolfo C, Dotta A. Campi F, et al. Among authors: pisaneschi e. Front Pediatr. 2023 Mar 29;11:1111527. doi: 10.3389/fped.2023.1111527. eCollection 2023. Front Pediatr. 2023. PMID: 37063679 Free PMC article.
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: pisaneschi e. Genes (Basel). 2023 Feb 22;14(3):549. doi: 10.3390/genes14030549. Genes (Basel). 2023. PMID: 36980822 Free PMC article.
Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.
Callea M, Bellacchio E, Cammarata Scalisi F, El Feghaly J, El-Ghandour RK, Avendaño A, Yavuz Y, Diociaiuti A, Digilio MC, DI Stazio M, Novelli A, Oranges T, Filippeschi C, Pisaneschi E, Jilani H, Gigola F, Willoughby CE, Morabito A. Callea M, et al. Among authors: pisaneschi e. Ital J Dermatol Venerol. 2023 Feb;158(1):32-38. doi: 10.23736/S2784-8671.23.07540-0. Ital J Dermatol Venerol. 2023. PMID: 36939501 Free article.
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Diociaiuti A, Rotunno R, Pisaneschi E, Cesario C, Carnevale C, Condorelli AG, Rollo M, Di Cecca S, Quintarelli C, Novelli A, Zambruno G, El Hachem M. Diociaiuti A, et al. Among authors: pisaneschi e. Biomedicines. 2022 Jun 20;10(6):1460. doi: 10.3390/biomedicines10061460. Biomedicines. 2022. PMID: 35740480 Free PMC article.
39 results