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Items: 43

1.

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M.

Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.

PMID:
30825388
2.

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Grassi L, Alfonsi R, Francescangeli F, Signore M, De Angelis ML, Addario A, Costantini M, Flex E, Ciolfi A, Pizzi S, Bruselles A, Pallocca M, Simone G, Haoui M, Falchi M, Milella M, Sentinelli S, Di Matteo P, Stellacci E, Gallucci M, Muto G, Tartaglia M, De Maria R, Bonci D.

Cell Death Dis. 2019 Feb 27;10(3):201. doi: 10.1038/s41419-019-1453-0.

3.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.

Musacchia F, Ciolfi A, Mutarelli M, Bruselles A, Castello R, Pinelli M, Basu S, Banfi S, Casari G, Tartaglia M, Nigro V; TUDP.

BMC Bioinformatics. 2018 Dec 12;19(1):477. doi: 10.1186/s12859-018-2532-4.

4.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.

J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.

PMID:
30323018
5.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M.

Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.

6.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F.

Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.

PMID:
29691679
7.

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.

Hum Mol Genet. 2018 Jun 1;27(11):1892-1904. doi: 10.1093/hmg/ddy096.

PMID:
29547997
8.

Colorectal cancer spheroid biobanks: multi-level approaches to drug sensitivity studies.

De Angelis ML, Bruselles A, Francescangeli F, Pucilli F, Vitale S, Zeuner A, Tartaglia M, Baiocchi M.

Cell Biol Toxicol. 2018 Dec;34(6):459-469. doi: 10.1007/s10565-018-9423-3. Epub 2018 Feb 24.

PMID:
29478126
9.

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

Servidei T, Meco D, Muto V, Bruselles A, Ciolfi A, Trivieri N, Lucchini M, Morosetti R, Mirabella M, Martini M, Caldarelli M, Lasorella A, Tartaglia M, Riccardi R.

Cancer Res. 2017 Nov 1;77(21):5860-5872. doi: 10.1158/0008-5472.CAN-17-0790.

10.

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.

Dorboz I, Aiello C, Simons C, Stone RT, Niceta M, Elmaleh M, Abuawad M, Doummar D, Bruselles A, Wolf NI, Travaglini L, Boespflug-Tanguy O, Tartaglia M, Vanderver A, Rodriguez D, Bertini E.

Brain. 2017 Oct 1;140(10):2550-2556. doi: 10.1093/brain/awx207.

PMID:
28969374
11.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Niceta M, Margiotti K, Digilio MC, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici ML, Consoli F, Torrente I, Ruiz-Perez VL, Dallapiccola B, Marino B, De Luca A, Tartaglia M.

Clin Genet. 2018 Mar;93(3):632-639. doi: 10.1111/cge.13128. Epub 2018 Jan 24.

PMID:
28857138
12.

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

Giorgio E, Rubino E, Bruselles A, Pizzi S, Rainero I, Duca S, Sirchia F, Pasini B, Tartaglia M, Brusco A.

Eur J Endocrinol. 2017 Nov;177(5):K21-K27. doi: 10.1530/EJE-17-0431. Epub 2017 Aug 17.

PMID:
28819016
13.

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.

Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22.

PMID:
28760337
14.

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G.

Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8.

15.

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A, Bruselles A, Meccia E, Fornasarig M, Quaia M, Canzonieri V, Policicchio E, Urso ED, Agostini M, Genuardi M, Lucci-Cordisco E, Venesio T, Martayan A, Diodoro MG, Sanchez-Mete L, Stigliano V, Mazzei F, Grasso F, Giuliani A, Baiocchi M, Maestro R, Giannini G, Tartaglia M, Alexandrov LB, Bignami M.

EBioMedicine. 2017 Jun;20:39-49. doi: 10.1016/j.ebiom.2017.04.022. Epub 2017 Apr 13.

16.

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation.

Verdina A, Di Rocco G, Virdia I, Monteonofrio L, Gatti V, Policicchio E, Bruselles A, Tartaglia M, Soddu S.

Oncotarget. 2017 Mar 7;8(10):16744-16754. doi: 10.18632/oncotarget.14421.

17.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.

Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19.

18.

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Dionisi-Vici C, Shteyer E, Niceta M, Rizzo C, Pode-Shakked B, Chillemi G, Bruselles A, Semeraro M, Barel O, Eyal E, Kol N, Haberman Y, Lahad A, Diomedi-Camassei F, Marek-Yagel D, Rechavi G, Tartaglia M, Anikster Y.

J Inherit Metab Dis. 2016 Sep;39(5):689-695. doi: 10.1007/s10545-016-9956-7. Epub 2016 Jul 1.

PMID:
27368975
19.

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Stellacci E, Onesimo R, Bruselles A, Pizzi S, Battaglia D, Leoni C, Zampino G, Tartaglia M.

Am J Med Genet A. 2016 Sep;170(9):2389-93. doi: 10.1002/ajmg.a.37681. Epub 2016 Jun 20. Review.

PMID:
27320412
20.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.

Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25.

21.

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G.

Clin Genet. 2017 Jan;91(1):86-91. doi: 10.1111/cge.12783. Epub 2016 May 11.

PMID:
27062503
22.

Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance.

De Angelis ML, Zeuner A, Policicchio E, Russo G, Bruselles A, Signore M, Vitale S, De Luca G, Pilozzi E, Boe A, Stassi G, Ricci-Vitiani L, Amoreo CA, Pagliuca A, Francescangeli F, Tartaglia M, De Maria R, Baiocchi M.

Stem Cells Transl Med. 2016 Apr;5(4):511-23. doi: 10.5966/sctm.2015-0214. Epub 2016 Mar 8.

23.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M.

Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3.

24.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M.

Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.

25.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A.

Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.

26.

The genotypic false positive rate determined by V3 population sequencing can predict the burden of HIV-1 CXCR4-using species detected by pyrosequencing.

Svicher V, Cento V, Rozera G, Abbate I, Santoro MM, Armenia D, Fabeni L, Bruselles A, Latini A, Palamara G, Micheli V, Rizzardini G, Gori C, Forbici F, Ippolito G, Andreoni M, Antinori A, Ceccherini-Silberstein F, Capobianchi MR, Perno CF.

PLoS One. 2013;8(1):e53603. doi: 10.1371/journal.pone.0053603. Epub 2013 Jan 14.

27.

Ultra-deep sequencing reveals hidden HIV-1 minority lineages and shifts of viral population between the main cellular reservoirs of the infection after therapy interruption.

Rozera G, Abbate I, Ciccozzi M, Lo Presti A, Bruselles A, Vlassi C, D'Offizi G, Narciso P, Giombini E, Bartolini B, Ippolito G, Capobianchi MR.

J Med Virol. 2012 Jun;84(6):839-44. doi: 10.1002/jmv.23292.

PMID:
22996031
28.

Assembly and characterization of pandemic influenza A H1N1 genome in nasopharyngeal swabs using high-throughput pyrosequencing.

Bartolini B, Chillemi G, Abbate I, Bruselles A, Rozera G, Castrignanò T, Paoletti D, Picardi E, Desideri A, Pesole G, Capobianchi MR.

New Microbiol. 2011 Oct;34(4):391-7. Epub 2011 Oct 31.

29.

'Sentinel' mutations in standard population sequencing can predict the presence of HIV-1 reverse transcriptase major mutations detectable only by ultra-deep pyrosequencing.

Alteri C, Santoro MM, Abbate I, Rozera G, Bruselles A, Bartolini B, Gori C, Forbici F, Orchi N, Tozzi V, Palamara G, Antinori A, Narciso P, Girardi E, Svicher V, Ceccherini-Silberstein F, Capobianchi MR, Perno CF.

J Antimicrob Chemother. 2011 Nov;66(11):2615-23. doi: 10.1093/jac/dkr354. Epub 2011 Sep 2.

30.

Combinatorial analysis and algorithms for quasispecies reconstruction using next-generation sequencing.

Prosperi MC, Prosperi L, Bruselles A, Abbate I, Rozera G, Vincenti D, Solmone MC, Capobianchi MR, Ulivi G.

BMC Bioinformatics. 2011 Jan 5;12:5. doi: 10.1186/1471-2105-12-5.

31.

Detection of quasispecies variants predicted to use CXCR4 by ultra-deep pyrosequencing during early HIV infection.

Abbate I, Vlassi C, Rozera G, Bruselles A, Bartolini B, Giombini E, Corpolongo A, D'Offizi G, Narciso P, Desideri A, Ippolito G, Capobianchi MR.

AIDS. 2011 Mar 13;25(5):611-7. doi: 10.1097/QAD.0b013e328343489e.

PMID:
21160417
32.

Analysis of co-receptor usage of circulating viral and proviral HIV genome quasispecies by ultra-deep pyrosequencing in patients who are candidates for CCR5 antagonist treatment.

Abbate I, Rozera G, Tommasi C, Bruselles A, Bartolini B, Chillemi G, Nicastri E, Narciso P, Ippolito G, Capobianchi MR.

Clin Microbiol Infect. 2011 May;17(5):725-31. doi: 10.1111/j.1469-0691.2010.03350.x. Epub 2010 Nov 5.

33.

Comparison of real-time PCR methods for measurement of HIV-1 proviral DNA.

Rozera G, Abbate I, Bruselles A, Bartolini B, D'Offizi G, Nicastri E, Tommasi C, Capobianchi MR.

J Virol Methods. 2010 Mar;164(1-2):135-8. doi: 10.1016/j.jviromet.2009.11.031. Epub 2009 Dec 4.

PMID:
19963009
34.

Archived HIV-1 minority variants detected by ultra-deep pyrosequencing in provirus may be fully replication competent.

Rozera G, Abbate I, Bruselles A, Vlassi C, D'Offizi G, Narciso P, Chillemi G, Prosperi M, Ippolito G, Capobianchi MR.

AIDS. 2009 Nov 27;23(18):2541-3. doi: 10.1097/QAD.0b013e32832fd2e1. No abstract available.

PMID:
19907212
35.

Low-abundance drug resistance mutations: extending the HIV paradigm to hepatitis B virus.

Menzo S, Vincenti D, Solmone M, Prosperi M, Bruselles A, Abbate I, Rozera G, Capobianchi MR.

J Infect Dis. 2009 Dec 1;200(11):1798-9; author reply 1799-1800. doi: 10.1086/647991. No abstract available.

PMID:
19905934
36.

Use of massive parallel pyrosequencing for near full-length characterization of a unique HIV Type 1 BF recombinant associated with a fatal primary infection.

Bruselles A, Rozera G, Bartolini B, Prosperi M, Del Nonno F, Narciso P, Capobianchi MR, Abbate I.

AIDS Res Hum Retroviruses. 2009 Sep;25(9):937-42. doi: 10.1089/aid.2009.0083.

PMID:
19751146
37.

Massively parallel pyrosequencing highlights minority variants in the HIV-1 env quasispecies deriving from lymphomonocyte sub-populations.

Rozera G, Abbate I, Bruselles A, Vlassi C, D'Offizi G, Narciso P, Chillemi G, Prosperi M, Ippolito G, Capobianchi MR.

Retrovirology. 2009 Feb 12;6:15. doi: 10.1186/1742-4690-6-15.

38.
39.

Role of flexibility and long range communication on the function of human topoisomerase I.

Chillemi G, Fiorani P, Bruselles A, Castelli S, Campagna A, Sarra O, Tesauro C, Fiorentini M, Vassallo O, D'Annessa I, Santoleri S, Desideri A.

Ital J Biochem. 2007 Jun;56(2):110-4. Review.

PMID:
17722651
40.

The open state of human topoisomerase I as probed by molecular dynamics simulation.

Chillemi G, Bruselles A, Fiorani P, Bueno S, Desideri A.

Nucleic Acids Res. 2007;35(9):3032-8. Epub 2007 Apr 16.

41.

Effect on DNA relaxation of the single Thr718Ala mutation in human topoisomerase I: a functional and molecular dynamics study.

Chillemi G, Fiorani P, Castelli S, Bruselles A, Benedetti P, Desideri A.

Nucleic Acids Res. 2005 Jun 8;33(10):3339-50. Print 2005.

42.

Role of the linker domain and the 203-214 N-terminal residues in the human topoisomerase I DNA complex dynamics.

Chillemi G, Redinbo M, Bruselles A, Desideri A.

Biophys J. 2004 Dec;87(6):4087-97. Epub 2004 Sep 3.

43.

Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I.

Fiorani P, Bruselles A, Falconi M, Chillemi G, Desideri A, Benedetti P.

J Biol Chem. 2003 Oct 31;278(44):43268-75. Epub 2003 Aug 6.

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