Pippucci T - Search Results

1

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.

Zuntini R, Cortesi L, Calistri D, Pippucci T, Martelli PL, Casadio R, Capizzi E, Santini D, Miccoli S, Medici V, Danesi R, Marchi I, Zampiga V, Fiorentino M, Ferrari S, Turchetti D. Zuntini R, et al. Among authors: pippucci t. Oncotarget. 2017 Apr 4;8(14):22640-22648. doi: 10.18632/oncotarget.15151. Oncotarget. 2017. PMID: 28186987 Free PMC article.

2

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158

3

Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E. Garone C, et al. Among authors: pippucci t. Dev Med Child Neurol. 2011 Oct;53(10):958-61. doi: 10.1111/j.1469-8749.2011.03993.x. Epub 2011 May 18. Dev Med Child Neurol. 2011. PMID: 21592092 Free article.

4

EX-HOM (EXome HOMozygosity): a proof of principle.

Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793 Free article.

5

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: pippucci t. 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

6

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Bisulli F, Naldi I, Baldassari S, Magini P, Licchetta L, Castegnaro G, Fabbri M, Stipa C, Ferrari S, Seri M, Gonçalves Silva GE, Tinuper P, Pippucci T. Bisulli F, et al. Among authors: pippucci t. Epilepsia. 2014 Jun;55(6):841-8. doi: 10.1111/epi.12560. Epub 2014 Mar 1. Epilepsia. 2014. PMID: 24579982 Free article.

7

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

Ciavarella M, Miccoli S, Prossomariti A, Pippucci T, Bonora E, Buscherini F, Palombo F, Zuntini R, Balbi T, Ceccarelli C, Bazzoli F, Ricciardiello L, Turchetti D, Piazzi G. Ciavarella M, et al. Among authors: pippucci t. Eur J Hum Genet. 2018 Mar;26(3):387-395. doi: 10.1038/s41431-017-0086-y. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367705 Free PMC article.

8

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Pippucci T, Parmeggiani A, Palombo F, Maresca A, Angius A, Crisponi L, Cucca F, Liguori R, Valentino ML, Seri M, Carelli V. Pippucci T, et al. PLoS One. 2013 Dec 16;8(12):e82154. doi: 10.1371/journal.pone.0082154. eCollection 2013. PLoS One. 2013. PMID: 24358150 Free PMC article.

9

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: pippucci t. Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26486927

10

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli M, Seri M, Pippucci T, Elpeleg O, Katsanis N. Harel T, et al. Among authors: pippucci t. Hum Mol Genet. 2020 Jun 3;29(9):1489-1497. doi: 10.1093/hmg/ddaa073. Hum Mol Genet. 2020. PMID: 32307552 Free PMC article.

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