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

431 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).
Alari V, Russo S, Rovina D, Gowran A, Garzo M, Crippa M, Mazzanti L, Scalera C, Prosperi E, Giardino D, Gervasini C, Finelli P, Pompilio G, Larizza L. Alari V, et al. Among authors: mazzanti l. Stem Cell Res. 2018 Jul;30:175-179. doi: 10.1016/j.scr.2018.06.009. Epub 2018 Jun 18. Stem Cell Res. 2018. PMID: 29944992 Free article.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT, Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C. Negri G, et al. Among authors: mazzanti l. Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26486927
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: mazzanti l. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Noonan-like syndrome with loose anagen hair: a new syndrome?
Mazzanti L, Cacciari E, Cicognani A, Bergamaschi R, Scarano E, Forabosco A. Mazzanti L, et al. Am J Med Genet A. 2003 Apr 30;118A(3):279-86. doi: 10.1002/ajmg.a.10923. Am J Med Genet A. 2003. PMID: 12673660
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.
Mazzanti L, Cicognani A, Baldazzi L, Bergamaschi R, Scarano E, Strocchi S, Nicoletti A, Mencarelli F, Pittalis M, Forabosco A, Cacciari E. Mazzanti L, et al. Am J Med Genet A. 2005 Jun 1;135(2):150-4. doi: 10.1002/ajmg.a.30569. Am J Med Genet A. 2005. PMID: 15880570
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M. Sarkozy A, et al. Among authors: mazzanti l. Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955. Hum Mutat. 2009. PMID: 19206169 Free PMC article.
Developmental syndromes: growth hormone deficiency and treatment.
Mazzanti L, Tamburrino F, Bergamaschi R, Scarano E, Montanari F, Torella M, Ballarini E, Cicognani A. Mazzanti L, et al. Endocr Dev. 2009;14:114-34. doi: 10.1159/000207481. Epub 2009 Feb 27. Endocr Dev. 2009. PMID: 19293579 Review.
431 results