Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

72 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Di Gregorio E, Gai G, Botta G, Calcia A, Pappi P, Talarico F, Savin E, Ribotta M, Zonta A, Mancini C, Giorgio E, Cavalieri S, Restagno G, Ferrero GB, Viora E, Pasini B, Grosso E, Brusco A, Brussino A. Di Gregorio E, et al. Among authors: savin e. Cytogenet Genome Res. 2015;147(1):10-6. doi: 10.1159/000442308. Epub 2015 Dec 12. Cytogenet Genome Res. 2015. PMID: 26658296 Free article.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: savin e. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Di Gregorio E, Savin E, Biamino E, Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia A, Mancini C, Giorgio E, Cavalieri S, Talarico F, Pappi P, Gandione M, Grosso M, Asnaghi V, Restagno G, Mandrile G, Botta G, Silengo MC, Grosso E, Ferrero GB, Brusco A. Di Gregorio E, et al. Among authors: savin e. Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014. Mol Cytogenet. 2014. PMID: 25435912 Free PMC article.
Cystic hygroma: prenatal diagnosis and genetic counselling.
Marchese C, Savin E, Dragone E, Carozzi F, De Marchi M, Campogrande M, Dolfin GC, Pagliano G, Viora E, Carbonara A. Marchese C, et al. Among authors: savin e. Prenat Diagn. 1985 May-Jun;5(3):221-7. doi: 10.1002/pd.1970050310. Prenat Diagn. 1985. PMID: 3895219
De novo balanced chromosome rearrangements in prenatal diagnosis.
Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, Piombo G, Pierluigi M, Faravelli F, Guerneri S, Coviello D, Lalatta F, Cavallari U, Bellotti D, Barlati S, Croci G, Franchi F, Savin E, Nocera G, Amico FP, Granata P, Casalone R, Nutini L, Lisi E, Torricelli F, Giussani U, Facchinetti B, Guanti G, Di Giacomo M, Susca FP, Pecile V, Romitti L, Cardarelli L, Racalbuto E, Police MA, Chiodo F, Rodeschini O, Falcone P, Donti E, Grimoldi MG, Martinoli E, Stioui S, Caufin D, Lauricella SA, Tanzariello SA, Voglino G, Lenzini E, Besozzi M, Larizza L, Dalprà L. Giardino D, et al. Among authors: savin e. Prenat Diagn. 2009 Mar;29(3):257-65. doi: 10.1002/pd.2215. Prenat Diagn. 2009. PMID: 19248039
Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study.
Simoni G, Fraccaro M, Arslanian A, Bacchetta M, Baccichetti C, Bignone FA, Cagiano A, Carbonara AO, Carozzi F, Cuoco C, Bricarelli FD, Dallapiccola B, Dalprà L, Carbone LD, Ferranti G, Filippi G, Frateschi M, Gimelli G, Gualtieri RM, Lenzini E, Micara G, Migone N, Montacuti V, Neri G, Papa R, Pecile V, Rocchi M, Savin E, Serra A, Tenconi R, Terzoli GL, Tibiletti MG. Simoni G, et al. Among authors: savin e. Hum Genet. 1982;60(1):63-8. doi: 10.1007/BF00281266. Hum Genet. 1982. PMID: 7076250
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalprà L, Genuardi M, Dagna-Bricarelli F, Calzolari E. Sensi A, et al. Among authors: savin e. Prenat Diagn. 2004 Aug;24(8):647-52. doi: 10.1002/pd.962. Prenat Diagn. 2004. PMID: 15305356
72 results