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A case of premature ovarian failure in a 33-year-old woman.
Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, Perrotti N, Malatesta P. Colao E, et al. Case Rep Genet. 2013;2013:573841. doi: 10.1155/2013/573841. Epub 2013 Jan 29. Case Rep Genet. 2013. PMID: 23509644 Free PMC article.
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.
Primerano A, Colao E, Villella C, Nocera MD, Ciambrone A, Luciano E, D'Antona L, Vismara MFM, Loddo S, Novelli A, Perrotti N, Malatesta P. Primerano A, et al. Among authors: colao e. Mol Cytogenet. 2015 Sep 2;8:70. doi: 10.1186/s13039-015-0172-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26336513 Free PMC article.
The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.
Vismara MF, Colao E, Fabiani F, Bombardiere F, Tamburrini O, Alessio C, Manti F, Pelaia G, Romeo P, Iuliano R, Perrotti N. Vismara MF, et al. Among authors: colao e. Respir Med Case Rep. 2015 Aug 12;16:77-80. doi: 10.1016/j.rmcr.2015.08.002. eCollection 2015. Respir Med Case Rep. 2015. PMID: 26744662 Free PMC article.
New SLC12A3 disease causative mutation of Gitelman's syndrome.
Grillone T, Menniti M, Bombardiere F, Vismara MF, Belviso S, Fabiani F, Perrotti N, Iuliano R, Colao E. Grillone T, et al. Among authors: colao e. World J Nephrol. 2016 Nov 6;5(6):551-555. doi: 10.5527/wjn.v5.i6.551. World J Nephrol. 2016. PMID: 27872838 Free PMC article.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy. Brancati F, et al. Among authors: colao e. Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891882 Free PMC article.
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
Contrò G, Tallerico R, Dattilo V, Fabiani F, Enzo MV, Hladnik U, Dastoli S, Nisticò SP, Colao E, Perrotti N, Iuliano R. Contrò G, et al. Among authors: colao e. Hum Genome Var. 2019 Jun 20;6:30. doi: 10.1038/s41439-019-0062-x. eCollection 2019. Hum Genome Var. 2019. PMID: 31240106 Free PMC article.
21 results