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

425 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: de marchi m, de rubeis s. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Among authors: de marchi m. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
A new CARD15 mutation in Blau syndrome.
van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, De Marchi M. van Duist MM, et al. Among authors: de marchi m. Eur J Hum Genet. 2005 Jun;13(6):742-7. doi: 10.1038/sj.ejhg.5201404. Eur J Hum Genet. 2005. PMID: 15812565
Definition of the smallest pathological CAG expansion in SCA7.
Nardacchione A, Orsi L, Brusco A, Franco A, Grosso E, Dragone E, Mortara P, Schiffer D, De Marchi M. Nardacchione A, et al. Among authors: de marchi m. Clin Genet. 1999 Sep;56(3):232-4. doi: 10.1034/j.1399-0004.1999.560309.x. Clin Genet. 1999. PMID: 10563484 No abstract available.
425 results