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Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.

Traversa A, Bernardo S, Paiardini A, Giovannetti A, Marchionni E, Genovesi ML, Guadagnolo D, Torres B, Paolacci S, Bernardini L, Mazza T, Carella M, Caputo V, Pizzuti A.

Mol Genet Genomic Med. 2019 Nov 22:e1054. doi: 10.1002/mgg3.1054. [Epub ahead of print]


A challenging case of pigmented Bowen's disease and differential diagnosis of pagetoid pigmented skin lesions.

Caputo V, Caselli E, Ribotta M, Bonoldi E.

Pathologica. 2019 Sep;111(3):98-104. doi: 10.32074/1591-951X-21-19.


NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene.

Strafella C, Caputo V, Pagliaroli G, Iozzo N, Campoli G, Carboni S, Peconi C, Galota RM, Zampatti S, Minozzi G, Novelli G, Giardina E, Cascella R.

Genes (Basel). 2019 Oct 12;10(10). pii: E792. doi: 10.3390/genes10100792.


The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R.

Hum Mol Genet. 2019 Oct 10. pii: ddz239. doi: 10.1093/hmg/ddz239. [Epub ahead of print]


Clinical Practice Use of Liquid Biopsy to Identify RAS/BRAF Mutations in Patients with Metastatic Colorectal Cancer (mCRC): A Single Institution Experience.

Vitiello PP, De Falco V, Giunta EF, Ciardiello D, Cardone C, Vitale P, Zanaletti N, Borrelli C, Poliero L, Terminiello M, Arrichiello G, Caputo V, Famiglietti V, Mattera Iacono V, Marrone F, Di Liello A, Martini G, Napolitano S, Caraglia M, Lombardi A, Franco R, De Vita F, Morgillo F, Troiani T, Ciardiello F, Martinelli E.

Cancers (Basel). 2019 Oct 8;11(10). pii: E1504. doi: 10.3390/cancers11101504.


Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.

Musumeci ML, Fiorentini F, Bianchi L, Cascella R, Giardina E, Caputo V, Micali G.

J Eur Acad Dermatol Venereol. 2019 Oct;33 Suppl 6:36-39. doi: 10.1111/jdv.15851.


Cystic echinococcosis in wild boars (Sus scrofa) from southern Italy: Epidemiological survey and molecular characterization.

Sgroi G, Varcasia A, Dessi G, D'Alessio N, Tamponi C, Saarma U, Laurimäe T, Kinkar L, Santoro M, Caputo V, Sarnelli P, Fusco G, Varuzza P, Fioretti A, Scala A, Veneziano V.

Int J Parasitol Parasites Wildl. 2019 Jun 9;9:305-311. doi: 10.1016/j.ijppaw.2019.04.013. eCollection 2019 Aug.


Letter: psoriasiform eruption during vedolizumab therapy.

Garbo GM, Renna S, Caputo V, Orlando E, Macaluso FS, Orlando R, Bongiorno MR, Orlando A.

Aliment Pharmacol Ther. 2019 Aug;50(3):342-343. doi: 10.1111/apt.15389. No abstract available.


Improving the Clinical Application of Natural Killer Cells by Modulating Signals Signal from Target Cells.

Holubova M, Leba M, Gmucova H, Caputo VS, Jindra P, Lysak D.

Int J Mol Sci. 2019 Jul 15;20(14). pii: E3472. doi: 10.3390/ijms20143472.


Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.

Strafella C, Caputo V, Minozzi G, Milano F, Arcangeli M, Sobhy N, Abdelmaksood R, Hashad D, Vakirlis E, Novelli G, Cascella R, Giardina E.

Biomed Res Int. 2019 Jun 4;2019:3457898. doi: 10.1155/2019/3457898. eCollection 2019.


Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.

Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E.

Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019.


Alternative Methods of Vaccine Delivery: An Overview of Edible and Intradermal Vaccines.

Criscuolo E, Caputo V, Diotti RA, Sautto GA, Kirchenbaum GA, Clementi N.

J Immunol Res. 2019 Mar 4;2019:8303648. doi: 10.1155/2019/8303648. eCollection 2019. Review.


The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A.

Strafella C, Errichiello V, Caputo V, Aloe G, Ricci F, Cusumano A, Novelli G, Giardina E, Cascella R.

Int J Mol Sci. 2019 Mar 29;20(7). pii: E1578. doi: 10.3390/ijms20071578.


Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.

Zampatti S, Colantoni L, Strafella C, Galota RM, Caputo V, Campoli G, Pagliaroli G, Carboni S, Mela J, Peconi C, Gambardella S, Cascella R, Giardina E.

Neurogenetics. 2019 May;20(2):57-64. doi: 10.1007/s10048-019-00575-4. Epub 2019 Mar 25. Review.


Consumer preferences for nutritional claims: An exploration of attention and choice based on an eye-tracking choice experiment.

Ballco P, de-Magistris T, Caputo V.

Food Res Int. 2019 Feb;116:37-48. doi: 10.1016/j.foodres.2018.12.031. Epub 2018 Dec 24.


The coordinated action of VCP/p97 and GCN2 regulates cancer cell metabolism and proteostasis during nutrient limitation.

Parzych K, Saavedra-García P, Valbuena GN, Al-Sadah HA, Robinson ME, Penfold L, Kuzeva DM, Ruiz-Tellez A, Loaiza S, Holzmann V, Caputo V, Johnson DC, Kaiser MF, Karadimitris A, Lam EW, Chevet E, Feldhahn N, Keun HC, Auner HW.

Oncogene. 2019 Apr;38(17):3216-3231. doi: 10.1038/s41388-018-0651-z. Epub 2019 Jan 9.


Discovering market segments for hunted wild game meat.

Marescotti ME, Caputo V, Demartini E, Gaviglio A.

Meat Sci. 2019 Mar;149:163-176. doi: 10.1016/j.meatsci.2018.11.019. Epub 2018 Nov 29.


Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.

Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E.

Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018.


Moving across the static magnetic field of a 1.5 T MRI scanner: Analysing compliance with Directive 2013/35/EU.

Gurrera D, Gallias KK, Spanò M, Abbate BF, D'Alia F, Iacoviello G, Caputo V.

Phys Med. 2019 Jan;57:238-244. doi: 10.1016/j.ejmp.2018.11.004. Epub 2018 Nov 20.


Enhanced Anti-lymphoma Activity of CAR19-iNKT Cells Underpinned by Dual CD19 and CD1d Targeting.

Rotolo A, Caputo VS, Holubova M, Baxan N, Dubois O, Chaudhry MS, Xiao X, Goudevenou K, Pitcher DS, Petevi K, Kachramanoglou C, Iles S, Naresh K, Maher J, Karadimitris A.

Cancer Cell. 2018 Oct 8;34(4):596-610.e11. doi: 10.1016/j.ccell.2018.08.017.


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.


Application of Precision Medicine in Neurodegenerative Diseases.

Strafella C, Caputo V, Galota MR, Zampatti S, Marella G, Mauriello S, Cascella R, Giardina E.

Front Neurol. 2018 Aug 23;9:701. doi: 10.3389/fneur.2018.00701. eCollection 2018. Review.


Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M.

Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29.


Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

Barbato E, Traversa A, Guarnieri R, Giovannetti A, Genovesi ML, Magliozzi MR, Paolacci S, Ciolfi A, Pizzi S, Di Giorgio R, Tartaglia M, Pizzuti A, Caputo V.

Arch Oral Biol. 2018 Jul;91:96-102. doi: 10.1016/j.archoralbio.2018.04.011. Epub 2018 Apr 21.


Intussusception After Roux-en-Y Gastric Bypass: Laparoscopic Management.

Facchiano E, Soricelli E, Leuratti L, Caputo V, Quartararo G, Lucchese M.

Obes Surg. 2018 Jul;28(7):2145-2147. doi: 10.1007/s11695-018-3265-1.


A Smooth Esophageal Stricture Causing Dysphagia.

Forti E, Bonato G, Dioscoridi L, Cintolo M, Pugliese F, Cristoferi L, Tringali A, Caputo V, Motta V, Torre MD, Conforti S, Mutignani M.

Dysphagia. 2018 Jun;33(3):399-402. doi: 10.1007/s00455-018-9891-x. Epub 2018 Apr 10.


Trombiculiasis: an underreported ectoparasitosis in Sicily.

Caputo V, Santi F, Cascio A, Trizzino M, Colomba C.

Infez Med. 2018 Mar 1;26(1):77-80.


Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.

Cascella R, Strafella C, Longo G, Ragazzo M, Manzo L, De Felici C, Errichiello V, Caputo V, Viola F, Eandi CM, Staurenghi G, Cusumano A, Mauriello S, Marsella LT, Ciccacci C, Borgiani P, Sangiuolo F, Novelli G, Ricci F, Giardina E.

Oncotarget. 2017 Dec 12;9(8):7812-7821. doi: 10.18632/oncotarget.23241. eCollection 2018 Jan 30.


Panniculitis in the setting of dermato/rheumatologic diseases.

Caputo V, Rongioletti F.

G Ital Dermatol Venereol. 2018 Apr;153(2):194-207. doi: 10.23736/S0392-0488.17.05845-X. Epub 2017 Dec 15. Review.


Towards the application of precision medicine in Age-Related Macular Degeneration.

Cascella R, Strafella C, Caputo V, Errichiello V, Zampatti S, Milano F, Potenza S, Mauriello S, Novelli G, Ricci F, Cusumano A, Giardina E.

Prog Retin Eye Res. 2018 Mar;63:132-146. doi: 10.1016/j.preteyeres.2017.11.004. Epub 2017 Nov 29. Review.


Combined platelet-rich plasma and lipofilling treatment provides great improvement in facial skin-induced lesion regeneration for scleroderma patients.

Virzì F, Bianca P, Giammona A, Apuzzo T, Di Franco S, Mangiapane LR, Colorito ML, Catalano D, Scavo E, Nicotra A, Benfante A, Pistone G, Caputo V, Dieli F, Pirrello R, Stassi G.

Stem Cell Res Ther. 2017 Oct 23;8(1):236. doi: 10.1186/s13287-017-0690-3.


Making sense of the "clean label" trends: A review of consumer food choice behavior and discussion of industry implications.

Asioli D, Aschemann-Witzel J, Caputo V, Vecchio R, Annunziata A, Næs T, Varela P.

Food Res Int. 2017 Sep;99(Pt 1):58-71. doi: 10.1016/j.foodres.2017.07.022. Epub 2017 Jul 13. Review.


Nucleic acid storage on FTA cards from cytological samples.

Caputo V, Picariello C, Lucchese L, Selleri C, Zeppa P, Peluso AL.

Cytopathology. 2017 Oct;28(5):440-441. doi: 10.1111/cyt.12441. Epub 2017 Jul 17. No abstract available.


IL4 Primes the Dynamics of Breast Cancer Progression via DUSP4 Inhibition.

Gaggianesi M, Turdo A, Chinnici A, Lipari E, Apuzzo T, Benfante A, Sperduti I, Di Franco S, Meraviglia S, Lo Presti E, Dieli F, Caputo V, Militello G, Vieni S, Stassi G, Todaro M.

Cancer Res. 2017 Jun 15;77(12):3268-3279. doi: 10.1158/0008-5472.CAN-16-3126. Epub 2017 Apr 11.


Efficacy of a film-forming medical device containing sunscreen (50+) and piroxicam 0.8% in actinic keratosis and field cancerization: a multicenter, assessor-blinded, 3 month trial.

Puviani M, Galloni C, Marchetti S, Sergio Pavone P, Lovati S, Pistone G, Caputo V, Tilotta G, Scarcella G, Campione E, Diluvio L, Garofalo V, Bianchi L, Milani M.

Curr Med Res Opin. 2017 Jul;33(7):1255-1259. doi: 10.1080/03007995.2017.1313212. Epub 2017 Apr 20.


Squamous Cell Tumors Recruit γδ T Cells Producing either IL17 or IFNγ Depending on the Tumor Stage.

Lo Presti E, Toia F, Oieni S, Buccheri S, Turdo A, Mangiapane LR, Campisi G, Caputo V, Todaro M, Stassi G, Cordova A, Moschella F, Rinaldi G, Meraviglia S, Dieli F.

Cancer Immunol Res. 2017 May;5(5):397-407. doi: 10.1158/2326-6066.CIR-16-0348. Epub 2017 Mar 28.


Vitiligo susceptibility and catalase gene polymorphisms in Sicilian population.

Caputo V, Niceta M, Fiorella S, La Vecchia M, Bastonini E, Bongiorno MR, Pistone G.

G Ital Dermatol Venereol. 2018 Oct;153(5):619-623. doi: 10.23736/S0392-0488.17.05488-8. Epub 2017 Feb 15.


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.


The Impact of Body Image on the WTP Values for Reduced-Fat and Low-Salt Content Potato Chips among Obese and Non-Obese Consumers.

de-Magistris T, López-Galán B, Caputo V.

Nutrients. 2016 Dec 21;8(12). pii: E830. doi: 10.3390/nu8120830.


TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E.

Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22.


Divergent Trends of Anti-JCPyV Serum Reactivity and Neutralizing Activity in Multiple Sclerosis (MS) Patients during Treatment with Natalizumab.

Diotti RA, Capra R, Moiola L, Caputo V, De Rossi N, Sangalli F, Martinelli V, Burioni R, Clementi M, Mancini N.

Viruses. 2016 May 7;8(5). pii: E128. doi: 10.3390/v8050128.


Single-cell profiling of human megakaryocyte-erythroid progenitors identifies distinct megakaryocyte and erythroid differentiation pathways.

Psaila B, Barkas N, Iskander D, Roy A, Anderson S, Ashley N, Caputo VS, Lichtenberg J, Loaiza S, Bodine DM, Karadimitris A, Mead AJ, Roberts I.

Genome Biol. 2016 May 3;17:83. doi: 10.1186/s13059-016-0939-7.


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.


Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.

Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Majore S, Castori M, Zachara E, Re F, Grammatico P.

Data Brief. 2016 Mar 10;7:607-13. doi: 10.1016/j.dib.2016.03.004. eCollection 2016 Jun.


Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D.

Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31.


General Anesthesia Causes Epigenetic Histone Modulation of c-Fos and Brain-derived Neurotrophic Factor, Target Genes Important for Neuronal Development in the Immature Rat Hippocampus.

Dalla Massara L, Osuru HP, Oklopcic A, Milanovic D, Joksimovic SM, Caputo V, DiGruccio MR, Ori C, Wang G, Todorovic SM, Jevtovic-Todorovic V.

Anesthesiology. 2016 Jun;124(6):1311-1327. doi: 10.1097/ALN.0000000000001111.


The prospects and promise of chimeric antigen receptor immunotherapy in multiple myeloma.

Rotolo A, Caputo V, Karadimitris A.

Br J Haematol. 2016 May;173(3):350-64. doi: 10.1111/bjh.13976. Epub 2016 Mar 8. Review.


Polyostotic Chondroblastic Osteosarcoma in a Kestrel ( Falco tinnunculus ).

De Luca Bossa LM, Mennonna G, Meomartino L, Paciello O, Ciccarelli F, De Biase D, Raia P, Caputo V, Fioretti A, Dipineto L.

J Avian Med Surg. 2015 Dec;29(4):336-9. doi: 10.1647/2014-052.


Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P.

Gene. 2016 Feb 15;577(2):227-35. doi: 10.1016/j.gene.2015.11.048. Epub 2015 Dec 2.


P63 in health and cancer.

Gonfloni S, Caputo V, Iannizzotto V.

Int J Dev Biol. 2015;59(1-3):87-93. doi: 10.1387/ijdb.150045sg. Review.

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