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Items: 50


Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing.

Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23822. [Epub ahead of print]


Assessing the Impact of Cyclosporin A on Lentiviral Transduction and Preservation of Human Hematopoietic Stem Cells in Clinically Relevant Ex Vivo Gene Therapy Settings.

Petrillo C, Calabria A, Piras F, Capotondo A, Spinozzi G, Cuccovillo I, Benedicenti F, Naldini L, Montini E, Biffi A, Gentner B, Kajaste-Rudnitski A.

Hum Gene Ther. 2019 May 24. doi: 10.1089/hum.2019.016. [Epub ahead of print]


Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.

Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP.

Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23.


Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia.

Marktel S, Scaramuzza S, Cicalese MP, Giglio F, Galimberti S, Lidonnici MR, Calbi V, Assanelli A, Bernardo ME, Rossi C, Calabria A, Milani R, Gattillo S, Benedicenti F, Spinozzi G, Aprile A, Bergami A, Casiraghi M, Consiglieri G, Masera N, D'Angelo E, Mirra N, Origa R, Tartaglione I, Perrotta S, Winter R, Coppola M, Viarengo G, Santoleri L, Graziadei G, Gabaldo M, Valsecchi MG, Montini E, Naldini L, Cappellini MD, Ciceri F, Aiuti A, Ferrari G.

Nat Med. 2019 Feb;25(2):234-241. doi: 10.1038/s41591-018-0301-6. Epub 2019 Jan 21.


Regulatory variants of FOXG1 in the context of its topological domain organisation.

Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N.

Eur J Hum Genet. 2018 Feb;26(2):186-196. doi: 10.1038/s41431-017-0011-4. Epub 2017 Dec 30.


"Spot diagnosis" or "spot the diagnosis"?

Benedicenti F, Stanzial F, Wischmeijer A, Inzana F.

J Neurol Sci. 2017 Aug 15;379:335-336. doi: 10.1016/j.jns.2017.05.063. Epub 2017 May 30. No abstract available.


The multiple faces of artwork diagnoses.

Benedicenti F, Superti-Furga A.

Lancet Neurol. 2017 Jun;16(6):417. doi: 10.1016/S1474-4422(17)30128-X. No abstract available.


Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.

Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.


The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427.


Preclinical Testing of the Safety and Tolerability of Lentiviral Vector-Mediated Above-Normal Alpha-L-Iduronidase Expression in Murine and Human Hematopoietic Cells Using Toxicology and Biodistribution Good Laboratory Practice Studies.

Visigalli I, Delai S, Ferro F, Cecere F, Vezzoli M, Sanvito F, Chanut F, Benedicenti F, Spinozzi G, Wynn R, Calabria A, Naldini L, Montini E, Cristofori P, Biffi A.

Hum Gene Ther. 2016 Oct;27(10):813-829. doi: 10.1089/hum.2016.068.


Immunotherapy of acute leukemia by chimeric antigen receptor-modified lymphocytes using an improved Sleeping Beauty transposon platform.

Magnani CF, Turazzi N, Benedicenti F, Calabria A, Tenderini E, Tettamanti S, Giordano Attianese GM, Cooper LJ, Aiuti A, Montini E, Biondi A, Biagi E.

Oncotarget. 2016 Aug 9;7(32):51581-51597. doi: 10.18632/oncotarget.9955.


miRNA-126 Orchestrates an Oncogenic Program in B Cell Precursor Acute Lymphoblastic Leukemia.

Nucera S, Giustacchini A, Boccalatte F, Calabria A, Fanciullo C, Plati T, Ranghetti A, Garcia-Manteiga J, Cittaro D, Benedicenti F, Lechman ER, Dick JE, Ponzoni M, Ciceri F, Montini E, Gentner B, Naldini L.

Cancer Cell. 2016 Jun 13;29(6):905-921. doi: 10.1016/j.ccell.2016.05.007.


Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.

Sessa M, Lorioli L, Fumagalli F, Acquati S, Redaelli D, Baldoli C, Canale S, Lopez ID, Morena F, Calabria A, Fiori R, Silvani P, Rancoita PM, Gabaldo M, Benedicenti F, Antonioli G, Assanelli A, Cicalese MP, Del Carro U, Sora MG, Martino S, Quattrini A, Montini E, Di Serio C, Ciceri F, Roncarolo MG, Aiuti A, Naldini L, Biffi A.

Lancet. 2016 Jul 30;388(10043):476-87. doi: 10.1016/S0140-6736(16)30374-9. Epub 2016 Jun 8.


Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

Garcia-Gomez M, Calabria A, Garcia-Bravo M, Benedicenti F, Kosinski P, López-Manzaneda S, Hill C, Del Mar Mañu-Pereira M, Martín MA, Orman I, Vives-Corrons JL, Kung C, Schambach A, Jin S, Bueren JA, Montini E, Navarro S, Segovia JC.

Mol Ther. 2016 Aug;24(7):1187-98. doi: 10.1038/mt.2016.87. Epub 2016 May 3.


adLIMS: a customized open source software that allows bridging clinical and basic molecular research studies.

Calabria A, Spinozzi G, Benedicenti F, Tenderini E, Montini E.

BMC Bioinformatics. 2015;16 Suppl 9:S5. doi: 10.1186/1471-2105-16-S9-S5. Epub 2015 Jun 1.


Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2.


Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.

Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH.

Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1.


Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N.

PLoS One. 2015 Apr 27;10(4):e0123092. doi: 10.1371/journal.pone.0123092. eCollection 2015.


Shedding of clinical-grade lentiviral vectors is not detected in a gene therapy setting.

Cesani M, Plati T, Lorioli L, Benedicenti F, Redaelli D, Dionisio F, Biasco L, Montini E, Naldini L, Biffi A.

Gene Ther. 2015 Jun;22(6):496-502. doi: 10.1038/gt.2015.10. Epub 2015 Mar 12.


Liver-directed lentiviral gene therapy in a dog model of hemophilia B.

Cantore A, Ranzani M, Bartholomae CC, Volpin M, Valle PD, Sanvito F, Sergi LS, Gallina P, Benedicenti F, Bellinger D, Raymer R, Merricks E, Bellintani F, Martin S, Doglioni C, D'Angelo A, VandenDriessche T, Chuah MK, Schmidt M, Nichols T, Montini E, Naldini L.

Sci Transl Med. 2015 Mar 4;7(277):277ra28. doi: 10.1126/scitranslmed.aaa1405.


VISPA: a computational pipeline for the identification and analysis of genomic vector integration sites.

Calabria A, Leo S, Benedicenti F, Cesana D, Spinozzi G, Orsini M, Merella S, Stupka E, Zanetti G, Montini E.

Genome Med. 2014 Sep 3;6(9):67. doi: 10.1186/s13073-014-0067-5. eCollection 2014.


Lentiviral vector-based insertional mutagenesis identifies genes involved in the resistance to targeted anticancer therapies.

Ranzani M, Annunziato S, Calabria A, Brasca S, Benedicenti F, Gallina P, Naldini L, Montini E.

Mol Ther. 2014 Dec;22(12):2056-68. doi: 10.1038/mt.2014.174. Epub 2014 Sep 8.


Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Novara F, Stanzial F, Rossi E, Benedicenti F, Inzana F, Di Gregorio E, Brusco A, Graakjaer J, Fagerberg C, Belligni E, Silengo M, Zuffardi O, Ciccone R.

Am J Med Genet A. 2014 Aug;164A(8):2084-90. doi: 10.1002/ajmg.a.36591. Epub 2014 May 12.


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.

Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9.


Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6.


Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy.

Lattanzi A, Salvagno C, Maderna C, Benedicenti F, Morena F, Kulik W, Naldini L, Montini E, Martino S, Gritti A.

Hum Mol Genet. 2014 Jun 15;23(12):3250-68. doi: 10.1093/hmg/ddu034. Epub 2014 Jan 23.


Uncovering and dissecting the genotoxicity of self-inactivating lentiviral vectors in vivo.

Cesana D, Ranzani M, Volpin M, Bartholomae C, Duros C, Artus A, Merella S, Benedicenti F, Sergi Sergi L, Sanvito F, Brombin C, Nonis A, Serio CD, Doglioni C, von Kalle C, Schmidt M, Cohen-Haguenauer O, Naldini L, Montini E.

Mol Ther. 2014 Apr;22(4):774-85. doi: 10.1038/mt.2014.3. Epub 2014 Jan 20.


SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.

Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.


SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.

Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S, Patrosso MC.

Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.


Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.

Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L.

Science. 2013 Aug 23;341(6148):1233158. doi: 10.1126/science.1233158. Epub 2013 Jul 11.


Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypes.

Malvestiti F, Benedicenti F, De Toffol S, Chinetti S, Höller A, Grimi B, Fichtel G, Braghetto M, Agrati C, Bonaparte E, Maggi F, Simoni G, Grati FR.

Case Rep Genet. 2013;2013:306098. doi: 10.1155/2013/306098. Epub 2013 May 16.


Lentiviral vector-based insertional mutagenesis identifies genes associated with liver cancer.

Ranzani M, Cesana D, Bartholomae CC, Sanvito F, Pala M, Benedicenti F, Gallina P, Sergi LS, Merella S, Bulfone A, Doglioni C, von Kalle C, Kim YJ, Schmidt M, Tonon G, Naldini L, Montini E.

Nat Methods. 2013 Feb;10(2):155-61. doi: 10.1038/nmeth.2331. Epub 2013 Jan 13.


An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.

Fanin M, Benedicenti F, Fritegotto C, Nascimbeni AC, Peterle E, Stanzial F, Cristofoletti A, Castellan C, Angelini C.

Clin Genet. 2012 Dec;82(6):601-2. doi: 10.1111/j.1399-0004.2012.01873.x. Epub 2012 Apr 9. No abstract available.


Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome.

Scaramuzza S, Biasco L, Ripamonti A, Castiello MC, Loperfido M, Draghici E, Hernandez RJ, Benedicenti F, Radrizzani M, Salomoni M, Ranzani M, Bartholomae CC, Vicenzi E, Finocchi A, Bredius R, Bosticardo M, Schmidt M, von Kalle C, Montini E, Biffi A, Roncarolo MG, Naldini L, Villa A, Aiuti A.

Mol Ther. 2013 Jan;21(1):175-84. doi: 10.1038/mt.2012.23. Epub 2012 Feb 28. Erratum in: Mol Ther. 2016 Jun;24(6):1159.


Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L.

Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.


Molecular characterization of 11 Italian patients with Darier disease.

Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P.

Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339.


Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection.

Biffi A, Bartolomae CC, Cesana D, Cartier N, Aubourg P, Ranzani M, Cesani M, Benedicenti F, Plati T, Rubagotti E, Merella S, Capotondo A, Sgualdino J, Zanetti G, von Kalle C, Schmidt M, Naldini L, Montini E.

Blood. 2011 May 19;117(20):5332-9. doi: 10.1182/blood-2010-09-306761. Epub 2011 Mar 14.


A revised diagnosis of oculo-auriculovertebral spectrum.

Benedicenti F.

J Indian Med Assoc. 2010 Mar;108(3):183. No abstract available.


Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.

Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.


Expanding CEP290 mutational spectrum in ciliopathies.

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025.


Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.

Di Pierro E, Brancaleoni V, Stanzial F, Benedicenti F, Castellan C, Cappellini MD.

Hum Genet. 2009 Aug;126(2):339. No abstract available.


The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy.

Montini E, Cesana D, Schmidt M, Sanvito F, Bartholomae CC, Ranzani M, Benedicenti F, Sergi LS, Ambrosi A, Ponzoni M, Doglioni C, Di Serio C, von Kalle C, Naldini L.

J Clin Invest. 2009 Apr;119(4):964-75. doi: 10.1172/JCI37630. Epub 2009 Mar 23.


Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, Benedicenti F, Zambruno G, Stefanini M.

Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.


Interesting suggestions about Yq deletions.

Benedicenti F, Castellan C.

Fertil Steril. 2009 Jan;91(1):300-1. doi: 10.1016/j.fertnstert.2008.05.064. Epub 2008 Aug 9. No abstract available.


Hematopoietic stem cell gene transfer in a tumor-prone mouse model uncovers low genotoxicity of lentiviral vector integration.

Montini E, Cesana D, Schmidt M, Sanvito F, Ponzoni M, Bartholomae C, Sergi Sergi L, Benedicenti F, Ambrosi A, Di Serio C, Doglioni C, von Kalle C, Naldini L.

Nat Biotechnol. 2006 Jun;24(6):687-96. Epub 2006 May 28.


Efficient Tet-dependent expression of human factor IX in vivo by a new self-regulating lentiviral vector.

Vigna E, Amendola M, Benedicenti F, Simmons AD, Follenzi A, Naldini L.

Mol Ther. 2005 May;11(5):763-75.


Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells.

De Palma M, Montini E, Santoni de Sio FR, Benedicenti F, Gentile A, Medico E, Naldini L.

Blood. 2005 Mar 15;105(6):2307-15. Epub 2004 Nov 12.


Down syndrome and parity.

Clementi M, Bianca S, Benedicenti F, Tenconi R; Working Group on Down Syndrome.

Community Genet. 1999;2(1):18-22.


Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.

Mammi I, Basile RT, Bellato S, Belli S, Benedicenti F, Boni S, Castellan C, Clementi M, Di Gianantonio E, Petrella M, Turolla L, Tenconi R.

Am J Med Genet A. 2003 Sep 1;121A(3):214-8. Erratum in: Am J Med Genet A. 2011 Apr;155A(4):942. multiple author names corrected.


Adverse effects of prenatal methimazole exposure.

Di Gianantonio E, Schaefer C, Mastroiacovo PP, Cournot MP, Benedicenti F, Reuvers M, Occupati B, Robert E, Bellemin B, Addis A, Arnon J, Clementi M.

Teratology. 2001 Nov;64(5):262-6.


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