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Page 1
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Genes (Basel). 2022 Nov 30;13(12):2249. doi: 10.3390/genes13122249.
Genes (Basel). 2022.
PMID: 36553517
Free PMC article.
Review.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A.
Grati FR, et al. Among authors: cambi f.
Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30.
Prenat Diagn. 2022.
PMID: 36403097
Free article.
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Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
Bertini V, Milone R, Cristofani P, Cambi F, Bosetti C, Barbieri F, Bertelloni S, Cioni G, Valetto A, Battini R.
Bertini V, et al. Among authors: cambi f.
Genes (Basel). 2022 May 12;13(5):859. doi: 10.3390/genes13050859.
Genes (Basel). 2022.
PMID: 35627244
Free PMC article.
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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.
Bertini V, Valetto A, Baldinotti F, Azzarà A, Cambi F, Toschi B, Giacomina A, Gatti GL, Gana S, Caligo MA, Bertelloni S.
Bertini V, et al. Among authors: cambi f.
Mol Syndromol. 2019 May;10(3):147-153. doi: 10.1159/000497092. Epub 2019 Mar 20.
Mol Syndromol. 2019.
PMID: 31191203
Free PMC article.
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625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability.
Bertini V, Cambi F, Bruno R, Toschi B, Forli F, Berrettini S, Simi P, Valetto A.
Bertini V, et al. Among authors: cambi f.
J Hum Genet. 2015 Dec;60(12):777-80. doi: 10.1038/jhg.2015.106. Epub 2015 Sep 10.
J Hum Genet. 2015.
PMID: 26354035
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