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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

189 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: scarano g. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.
Russo S, Masciadri M, Gervasini C, Azzollini J, Cereda A, Zampino G, Haas O, Scarano G, Di Rocco M, Finelli P, Tenconi R, Selicorni A, Larizza L. Russo S, et al. Among authors: scarano g. Eur J Hum Genet. 2012 Jul;20(7):734-41. doi: 10.1038/ejhg.2012.7. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353942 Free PMC article.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Micale L, et al. Among authors: scarano g. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24633898 Free PMC article.
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Among authors: scarano g. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, Digilio MC, Dentici ML, Alfieri P, Agolini E, Novelli A, Garavelli L, Accogli A; TUDP; Striano P, Scarano G, Nigro V, Scala M, Capra V. Romano F, et al. Among authors: scarano g. Birth Defects Res. 2022 Aug 1;114(13):759-767. doi: 10.1002/bdr2.2058. Epub 2022 Jun 18. Birth Defects Res. 2022. PMID: 35716097 Free PMC article. Review.
189 results