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Items: 1 to 50 of 318

1.

Ethyl Glucuronide Concentration in Hair of Detainees: A Preliminary Study.

Pascali JP, Palumbo D, Umani Ronchi F, Mari F, Fioravanti A, Bertol E.

J Forensic Sci. 2019 Jul 16. doi: 10.1111/1556-4029.14132. [Epub ahead of print]

PMID:
31310667
2.

Analysis of the Phenotypes in the Rett Networked Database.

Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A.

Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019.

3.

Psychotropic substance abuse and fitness to hold a driving license in Italy.

Pascali JP, Vaiano F, Palumbo D, Umani Ronchi F, Mari F, Bertol E.

Traffic Inj Prev. 2019;20(3):244-248. doi: 10.1080/15389588.2019.1579320. Epub 2019 Apr 23.

PMID:
31013165
4.

Development of an Artificial Intelligence Model to Guide the Management of Blood Pressure, Fluid Volume, and Dialysis Dose in End-Stage Kidney Disease Patients: Proof of Concept and First Clinical Assessment.

Barbieri C, Cattinelli I, Neri L, Mari F, Ramos R, Brancaccio D, Canaud B, Stuard S.

Kidney Dis (Basel). 2019 Feb;5(1):28-33. doi: 10.1159/000493479. Epub 2018 Nov 7. Review.

5.

Non-collagen genes role in digenic Alport syndrome.

Daga S, Fallerini C, Furini S, Pecoraro C, Scolari F, Ariani F, Bruttini M, Mencarelli MA, Mari F, Renieri A, Pinto AM.

BMC Nephrol. 2019 Feb 26;20(1):70. doi: 10.1186/s12882-019-1258-5.

6.

Conodipine-P1-3, the First Phospholipases A2 Characterized from Injected Cone Snail Venom.

Möller C, Davis WC, Clark E, DeCaprio A, Marí F.

Mol Cell Proteomics. 2019 May;18(5):876-891. doi: 10.1074/mcp.RA118.000972. Epub 2019 Feb 14.

PMID:
30765458
7.

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Giliberti A, Currò A, Papa FT, Frullanti E, Ariani F, Coriolani G, Grosso S, Renieri A, Mari F.

Eur J Med Genet. 2019 Feb 5. pii: S1769-7212(18)30600-1. doi: 10.1016/j.ejmg.2019.01.017. [Epub ahead of print]

PMID:
30735726
8.

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM.

Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

9.

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel.

Vignatelli L, Antelmi E, Ceretelli I, Bellini M, Carta C, Cortelli P, Ferini-Strambi L, Ferri R, Guerrini R, Ingravallo F, Marchiani V, Mari F, Pieroni G, Pizza F, Verga MC, Verrillo E, Taruscio D, Plazzi G.

Neurol Sci. 2019 Mar;40(3):447-456. doi: 10.1007/s10072-018-3666-x. Epub 2018 Dec 12. Review.

10.

Evidence of predisposing epimutation in retinoblastoma.

Gelli E, Pinto AM, Somma S, Imperatore V, Cannone MG, Hadjistilianou T, De Francesco S, Galimberti D, Currò A, Bruttini M, Mari F, Renieri A, Ariani F.

Hum Mutat. 2019 Feb;40(2):201-206. doi: 10.1002/humu.23684. Epub 2018 Nov 26.

PMID:
30427563
11.

The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures.

Vasta R, Cerasa A, Sarica A, Bartolini E, Martino I, Mari F, Metitieri T, Quattrone A, Gambardella A, Guerrini R, Labate A.

Epilepsy Behav. 2018 Oct;87:167-172. doi: 10.1016/j.yebeh.2018.09.008. Epub 2018 Sep 28.

12.

Proactive drugs in DFSA cases: Toxicological findings in an eight-years study.

Bertol E, Di Milia MG, Fioravanti A, Mari F, Palumbo D, Pascali JP, Vaiano F.

Forensic Sci Int. 2018 Oct;291:207-215. doi: 10.1016/j.forsciint.2018.08.032. Epub 2018 Aug 31.

PMID:
30218868
13.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

14.

Sirolimus in Infants with Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex.

Lucchesi M, Chiappa E, Giordano F, Mari F, Genitori L, Sardi I.

Case Rep Oncol. 2018 Jun 28;11(2):425-430. doi: 10.1159/000490662. eCollection 2018 May-Aug.

15.

Definition of the R-superfamily of conotoxins: Structural convergence of helix-loop-helix peptidic scaffolds.

Möller C, Dovell S, Melaun C, Marí F.

Peptides. 2018 Sep;107:75-82. doi: 10.1016/j.peptides.2018.06.002. Epub 2018 Jul 21.

PMID:
30040981
16.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H.

Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Review.

17.

The anaemia control model: Does it help nephrologists in therapeutic decision-making in the management of anaemia?

Bucalo ML, Barbieri C, Roca S, Ion Titapiccolo J, Ros Romero MS, Ramos R, Albaladejo M, Manzano D, Mari F, Molina M.

Nefrologia. 2018 Sep - Oct;38(5):491-502. doi: 10.1016/j.nefro.2018.03.004. Epub 2018 Jun 3. English, Spanish.

18.

iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.

Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Renieri A, Campiani G, Meloni I.

Exp Cell Res. 2018 Jul 15;368(2):225-235. doi: 10.1016/j.yexcr.2018.05.001. Epub 2018 May 4.

PMID:
29730163
19.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Mari F, Berti B, Romano A, Baldacci J, Rizzi R, Grazia Alessandrì M, Tessa A, Procopio E, Rubegni A, Lourenḉo CM, Simonati A, Guerrini R, Santorelli FM.

Neurogenetics. 2018 May;19(2):123-130. doi: 10.1007/s10048-018-0538-8. Epub 2018 Feb 8.

PMID:
29423566
20.

Analysis of illicit drugs seized in the Province of Florence from 2006 to 2016.

Bertol E, Bigagli L, D'Errico S, Mari F, Palumbo D, Pascali JP, Vaiano F.

Forensic Sci Int. 2018 Mar;284:194-203. doi: 10.1016/j.forsciint.2018.01.010. Epub 2018 Feb 3.

PMID:
29408729
21.
22.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.

PMID:
29300384
23.

Structural plasticity of mini-M conotoxins - expression of all mini-M subtypes by Conus regius.

Franco A, Dovell S, Möller C, Grandal M, Clark E, Marí F.

FEBS J. 2018 Mar;285(5):887-902. doi: 10.1111/febs.14372. Epub 2018 Jan 28.

24.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R.

Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec.

25.

Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.

Papa FT, Mancardi MM, Frullanti E, Fallerini C, Della Chiara V, Zalba-Jadraque L, Baldassarri M, Gamucci A, Mari F, Veneselli E, Renieri A.

Clin Dysmorphol. 2018 Jan;27(1):18-20. doi: 10.1097/MCD.0000000000000205. No abstract available.

PMID:
29194067
26.

Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.

Daga S, Baldassarri M, Lo Rizzo C, Fallerini C, Imperatore V, Longo I, Frullanti E, Landucci E, Massella L, Pecoraro C, Garosi G, Ariani F, Mencarelli MA, Mari F, Renieri A, Pinto AM.

Hum Mutat. 2018 Feb;39(2):302-314. doi: 10.1002/humu.23364. Epub 2017 Nov 22.

PMID:
29098738
27.

Proteomic Analysis of Thiol Modifications and Assessment of Structural Changes in Hemoglobin Induced by the Aniline Metabolites N-Phenylhydroxylamine and Nitrosobenzene.

Möller C, Davis WC, Thompson VR, Marí F, DeCaprio AP.

Sci Rep. 2017 Nov 1;7(1):14794. doi: 10.1038/s41598-017-14653-w.

28.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

29.

Effects of α-conotoxin ImI on TNF-α, IL-8 and TGF-β expression by human macrophage-like cells derived from THP-1 pre-monocytic leukemic cells.

Padilla A, Keating P, Hartmann JX, Marí F.

Sci Rep. 2017 Oct 6;7(1):12742. doi: 10.1038/s41598-017-11586-2.

30.

Psychoactive substances belonging to the amphetamine class potently activate brain carbonic anhydrase isoforms VA, VB, VII, and XII.

Angeli A, Vaiano F, Mari F, Bertol E, Supuran CT.

J Enzyme Inhib Med Chem. 2017 Dec;32(1):1253-1259. doi: 10.1080/14756366.2017.1375485.

31.

In vivo and in vitro testing of native α-conotoxins from the injected venom of Conus purpurascens.

Hoggard MF, Rodriguez AM, Cano H, Clark E, Tae HS, Adams DJ, Godenschwege TA, Marí F.

Neuropharmacology. 2017 Dec;127:253-259. doi: 10.1016/j.neuropharm.2017.09.020. Epub 2017 Sep 14.

PMID:
28917942
32.

Warfarin in CKD patients with atrial fibrillation.

Brancaccio D, Neri L, Bellocchio F, Barbieri C, Amato C, Mari F, Canaud B, Stuard S.

Kidney Int. 2017 Sep;92(3):766-767. doi: 10.1016/j.kint.2017.06.005. No abstract available.

PMID:
28807266
33.

Possession Zone as a Performance Indicator in Football. The Game of the Best Teams.

Casal CA, Maneiro R, Ardá T, Marí FJ, Losada JL.

Front Psychol. 2017 Jul 14;8:1176. doi: 10.3389/fpsyg.2017.01176. eCollection 2017.

34.

Advances in new psychoactive substances identification: the U.R.I.To.N. Consortium.

Bertol E, Vaiano F, Mari F, Di Milia MG, Bua S, Supuran CT, Carta F.

J Enzyme Inhib Med Chem. 2017 Dec;32(1):841-849. doi: 10.1080/14756366.2017.1333987.

35.

STARR with Contour Transtar for Obstructed Defecation Syndrome: Long-Term Results.

Mari FS, Pezzatini M, Gasparrini M, Antonio B.

World J Surg. 2017 Nov;41(11):2906-2911. doi: 10.1007/s00268-017-4084-6.

PMID:
28600694
36.

Multiple deaths caused by a fire in a factory: identification and investigative issues.

Pinchi V, Bartolini V, Bertol E, Focardi M, Mari F, Ricci U, Vanin S, Norelli GA.

J Forensic Odontostomatol. 2016 Dec 1;2(34):47-59.

37.

Isolation and characterization of Conohyal-P1, a hyaluronidase from the injected venom of Conus purpurascens.

Möller C, Clark E, Safavi-Hemami H, DeCaprio A, Marí F.

J Proteomics. 2017 Jul 5;164:73-84. doi: 10.1016/j.jprot.2017.05.002. Epub 2017 May 4.

PMID:
28479398
38.

Hair testing of propofol by liquid chromatography-tandem mass spectrometry and azo-coupling derivatization.

Vaiano F, Busardò FP, Pascali J, Fioravanti A, Mortali C, Mari F, Bertol E.

Drug Test Anal. 2017 Jul;9(7):1080-1084. doi: 10.1002/dta.2190. Epub 2017 Apr 17. No abstract available.

PMID:
28317273
39.

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

Mascalchi M, Mari F, Berti B, Bartolini E, Lenge M, Bianchi A, Antonucci L, Santorelli FM, Garavaglia B, Guerrini R.

Cerebellum. 2017 Jun;16(3):742-745. doi: 10.1007/s12311-017-0843-z.

PMID:
28091863
40.

3-MeO-PCP intoxication in two young men: First in vivo detection in Italy.

Bertol E, Pascali J, Palumbo D, Catalani V, Di Milia MG, Fioravanti A, Mari F, Vaiano F.

Forensic Sci Int. 2017 May;274:7-12. doi: 10.1016/j.forsciint.2016.12.028. Epub 2016 Dec 26.

PMID:
28057371
41.

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group, Guerrini R.

Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9.

PMID:
27864847
42.

Alport syndrome: impact of digenic inheritance in patients management.

Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F.

Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22.

PMID:
27859054
43.

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.

Bianciardi L, Imperatore V, Fernandez-Vizarra E, Lopomo A, Falabella M, Furini S, Galluzzi P, Grosso S, Zeviani M, Renieri A, Mari F, Frullanti E.

Mol Genet Metab. 2016 Nov;119(3):214-222. doi: 10.1016/j.ymgme.2016.09.001. Epub 2016 Sep 3.

PMID:
27623250
44.

Patients' Characteristics Affect the Survival Benefit of Warfarin Treatment for Hemodialysis Patients with Atrial Fibrillation. A Historical Cohort Study.

Brancaccio D, Neri L, Bellocchio F, Barbieri C, Amato C, Mari F, Canaud B, Stuard S.

Am J Nephrol. 2016;44(4):258-267. Epub 2016 Sep 7.

45.

Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Pinto AM, Imperatore V, Bianciardi L, Baldassarri M, Galluzzi P, Furini S, Centini G, Renieri A, Mari F.

Clin Dysmorphol. 2017 Jan;26(1):18-25.

PMID:
27749392
46.

Alcohol, caffeine, and nicotine consumption in adolescents: hair analysis versus self-report.

Bertol E, Vaiano F, Boscolo-Berto R, Fioravanti A, Palumbo D, Catalani V, Mari F, Patussi V, Serpelloni G.

Am J Drug Alcohol Abuse. 2017 May;43(3):341-349. doi: 10.1080/00952990.2016.1216556. Epub 2016 Sep 2.

PMID:
27588338
47.

A novel screening method for 64 new psychoactive substances and 5 amphetamines in blood by LC-MS/MS and application to real cases.

Vaiano F, Busardò FP, Palumbo D, Kyriakou C, Fioravanti A, Catalani V, Mari F, Bertol E.

J Pharm Biomed Anal. 2016 Sep 10;129:441-449. doi: 10.1016/j.jpba.2016.07.009. Epub 2016 Jul 7.

PMID:
27490334
48.

Nicolaides-Baraitser syndrome: defining a phenotype.

Pretegiani E, Mari F, Renieri A, Penco S, Dotti MT.

J Neurol. 2016 Aug;263(8):1659-60. doi: 10.1007/s00415-016-8194-0. Epub 2016 Jun 10. No abstract available.

PMID:
27286846
49.

Semiautomatic Whole-lesion Apparent Diffusion Coefficient Assessment for Early Prediction of Liver Tumor Response to Radioembolization.

Rathmann N, Budjan J, Mari F, Grimm R, Attenberger U, Kostrzewa M, Sadick M, Schoenberg SO, Diehl SJ.

Anticancer Res. 2016 Jun;36(6):2961-6.

PMID:
27272811
50.

An international observational study suggests that artificial intelligence for clinical decision support optimizes anemia management in hemodialysis patients.

Barbieri C, Molina M, Ponce P, Tothova M, Cattinelli I, Ion Titapiccolo J, Mari F, Amato C, Leipold F, Wehmeyer W, Stuard S, Stopper A, Canaud B.

Kidney Int. 2016 Aug;90(2):422-429. doi: 10.1016/j.kint.2016.03.036. Epub 2016 Jun 2.

PMID:
27262365

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