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Items: 1 to 50 of 960

1.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy.

Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0183-6. [Epub ahead of print]

PMID:
29891882
2.

Lamins and bone disorders: current understanding and perspectives.

Gargiuli C, Schena E, Mattioli E, Columbaro M, D'Apice MR, Novelli G, Greggi T, Lattanzi G.

Oncotarget. 2018 Apr 27;9(32):22817-22831. doi: 10.18632/oncotarget.25071. eCollection 2018 Apr 27. Review.

3.

A multivariate genetic analysis confirms rs5010528 in the human leucocyte antigen-C locus as a significant contributor to Stevens-Johnson syndrome/toxic epidermal necrolysis susceptibility in a Mozambique HIV population treated with nevirapine.

Ciccacci C, Politi C, Mancinelli S, Ciccacci F, Lucaroni F, Novelli G, Marazzi MC, Palombi L, Borgiani P.

J Antimicrob Chemother. 2018 May 11. doi: 10.1093/jac/dky180. [Epub ahead of print]

PMID:
29762688
4.

Evaluation of ATG5 polymorphisms in Italian patients with systemic lupus erythematosus: contribution to disease susceptibility and clinical phenotypes.

Ciccacci C, Perricone C, Alessandri C, Latini A, Politi C, Delunardo F, Pierdominici M, Conti F, Novelli G, Ortona E, Borgiani P.

Lupus. 2018 Jan 1:961203318776108. doi: 10.1177/0961203318776108. [Epub ahead of print]

PMID:
29759048
5.

AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1.

Dinarelli S, Girasole M, Spitalieri P, Talarico RV, Murdocca M, Botta A, Novelli G, Mango R, Sangiuolo F, Longo G.

J Mol Recognit. 2018 May 10:e2725. doi: 10.1002/jmr.2725. [Epub ahead of print]

PMID:
29748973
6.

Prospective Observational Study on acute Appendicitis Worldwide (POSAW).

Sartelli M, Baiocchi GL, Di Saverio S, Ferrara F, Labricciosa FM, Ansaloni L, Coccolini F, Vijayan D, Abbas A, Abongwa HK, Agboola J, Ahmed A, Akhmeteli L, Akkapulu N, Akkucuk S, Altintoprak F, Andreiev AL, Anyfantakis D, Atanasov B, Bala M, Balalis D, Baraket O, Bellanova G, Beltran M, Melo RB, Bini R, Bouliaris K, Brunelli D, Castillo A, Catani M, Che Jusoh A, Chichom-Mefire A, Cocorullo G, Coimbra R, Colak E, Costa S, Das K, Delibegovic S, Demetrashvili Z, Di Carlo I, Kiseleva N, El Zalabany T, Faro M, Ferreira M, Fraga GP, Gachabayov M, Ghnnam WM, Giménez Maurel T, Gkiokas G, Gomes CA, Griffiths E, Guner A, Gupta S, Hecker A, Hirano ES, Hodonou A, Hutan M, Ioannidis O, Isik A, Ivakhov G, Jain S, Jokubauskas M, Karamarkovic A, Kauhanen S, Kaushik R, Kavalakat A, Kenig J, Khokha V, Khor D, Kim D, Kim JI, Kong V, Lasithiotakis K, Leão P, Leon M, Litvin A, Lohsiriwat V, López-Tomassetti Fernandez E, Lostoridis E, Maciel J, Major P, Dimova A, Manatakis D, Marinis A, Martinez-Perez A, Marwah S, McFarlane M, Mesina C, Pędziwiatr M, Michalopoulos N, Misiakos E, Mohamedahmed A, Moldovanu R, Montori G, Mysore Narayana R, Negoi I, Nikolopoulos I, Novelli G, Novikovs V, Olaoye I, Omari A, Ordoñez CA, Ouadii M, Ozkan Z, Pal A, Palini GM, Partecke LI, Pata F, Pędziwiatr M, Pereira Júnior GA, Pintar T, Pisarska M, Ploneda-Valencia CF, Pouggouras K, Prabhu V, Ramakrishnapillai P, Regimbeau JM, Reitz M, Rios-Cruz D, Saar S, Sakakushev B, Seretis C, Sazhin A, Shelat V, Skrovina M, Smirnov D, Spyropoulos C, Strzałka M, Talving P, Teixeira Gonsaga RA, Theobald G, Tomadze G, Torba M, Tranà C, Ulrych J, Uzunoğlu MY, Vasilescu A, Occhionorelli S, Venara A, Vereczkei A, Vettoretto N, Vlad N, Walędziak M, Yilmaz TU, Yuan KC, Yunfeng C, Zilinskas J, Grelpois G, Catena F.

World J Emerg Surg. 2018 Apr 16;13:19. doi: 10.1186/s13017-018-0179-0. eCollection 2018.

7.

A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.

Maroofian R, Murdocca M, Rezaei-Delui H, Nekooei A, Mojarad M, Sangiuolo F, Novelli G, Superti-Furga A, D'Apice MR.

Clin Dysmorphol. 2018 Jul;27(3):88-90. doi: 10.1097/MCD.0000000000000220. No abstract available.

PMID:
29595749
8.

Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes.

Spitalieri P, Talarico RV, Caioli S, Murdocca M, Serafino A, Girasole M, Dinarelli S, Longo G, Pucci S, Botta A, Novelli G, Zona C, Mango R, Sangiuolo F.

J Mol Cell Cardiol. 2018 May;118:95-109. doi: 10.1016/j.yjmcc.2018.03.012. Epub 2018 Mar 15.

PMID:
29551391
9.

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.

10.

Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).

Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S.

Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. No abstract available.

PMID:
29405036
11.

Ocean convergence and the dispersion of flotsam.

D'Asaro EA, Shcherbina AY, Klymak JM, Molemaker J, Novelli G, Guigand CM, Haza AC, Haus BK, Ryan EH, Jacobs GA, Huntley HS, Laxague NJM, Chen S, Judt F, McWilliams JC, Barkan R, Kirwan AD Jr, Poje AC, Özgökmen TM.

Proc Natl Acad Sci U S A. 2018 Feb 6;115(6):1162-1167. doi: 10.1073/pnas.1718453115. Epub 2018 Jan 16. Erratum in: Proc Natl Acad Sci U S A. 2018 Mar 5;:.

12.

Genetics and Treatment Response in Parkinson's Disease: An Update on Pharmacogenetic Studies.

Politi C, Ciccacci C, Novelli G, Borgiani P.

Neuromolecular Med. 2018 Mar;20(1):1-17. doi: 10.1007/s12017-017-8473-7. Epub 2018 Jan 5. Review.

PMID:
29305687
13.

An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment.

Novelli G, Ardito E, Mazzoleni F, Bozzetti A, Sozzi D.

Ann Stomatol (Roma). 2017 Nov 8;8(2):89-94. doi: 10.11138/ads/2017.8.2.045. eCollection 2017 Apr-Jun.

14.

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.

Santoro M, Fontana L, Maiorca F, Centofanti F, Massa R, Silvestri G, Novelli G, Botta A.

Biochim Biophys Acta. 2018 Mar;1864(3):917-924. doi: 10.1016/j.bbadis.2017.12.037. Epub 2017 Dec 29.

PMID:
29291944
15.

KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility.

Cascella R, Strafella C, Ragazzo M, Manzo L, Costanza G, Bowes J, Hüffmeier U, Potenza S, Sangiuolo F, Reis A, Barton A, Novelli G, Orlandi A, Giardina E.

Oncotarget. 2017 Sep 8;8(56):95401-95411. doi: 10.18632/oncotarget.20727. eCollection 2017 Nov 10.

16.

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.

Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C, Lattanzi G.

Ageing Res Rev. 2018 Mar;42:1-13. doi: 10.1016/j.arr.2017.12.001. Epub 2017 Dec 5. Review.

17.

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.

PMID:
29197628
18.

Negative pressure wound therapy in complex cranio-maxillofacial and cervical wounds.

Novelli G, Daleffe F, Birra G, Canzi G, Mazzoleni F, Boni P, Maino C, Giussani C, Sozzi D, Bozzetti A.

Int Wound J. 2018 Feb;15(1):16-23. doi: 10.1111/iwj.12802. Epub 2017 Nov 23.

PMID:
29171161
19.

Correlation between maternal body composition and haemodynamic changes in pregnancy: different profiles for different hypertensive disorders.

Pisani I, Tiralongo GM, Lo Presti D, Gagliardi G, Farsetti D, Vasapollo B, Novelli GP, Andreoli A, Valensise H.

Pregnancy Hypertens. 2017 Oct;10:131-134. doi: 10.1016/j.preghy.2017.07.149. Epub 2017 Jul 27.

PMID:
29153665
20.

Association between a MIR499A polymorphism and diabetic neuropathy in type 2 diabetes.

Ciccacci C, Latini A, Greco C, Politi C, D'Amato C, Lauro D, Novelli G, Borgiani P, Spallone V.

J Diabetes Complications. 2018 Jan;32(1):11-17. doi: 10.1016/j.jdiacomp.2017.10.011. Epub 2017 Oct 26.

PMID:
29108839
21.

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Cascella R, Strafella C, Longo G, Manzo L, Ragazzo M, De Felici C, Gambardella S, Marsella LT, Novelli G, Borgiani P, Sangiuolo F, Cusumano A, Ricci F, Giardina E.

Eye (Lond). 2018 Feb;32(2):446-450. doi: 10.1038/eye.2017.192. Epub 2017 Sep 15.

PMID:
28912512
22.

Implant rehabilitation in fibula-free flap reconstruction: A retrospective study of cases at 1-18 years following surgery.

Sozzi D, Novelli G, Silva R, Connelly ST, Tartaglia GM.

J Craniomaxillofac Surg. 2017 Oct;45(10):1655-1661. doi: 10.1016/j.jcms.2017.06.021. Epub 2017 Jul 8.

PMID:
28823690
23.

Polymorphisms in miRNA genes and their involvement in autoimmune diseases susceptibility.

Latini A, Ciccacci C, Novelli G, Borgiani P.

Immunol Res. 2017 Aug;65(4):811-827. doi: 10.1007/s12026-017-8937-8. Review.

PMID:
28741258
24.

Impact of glutathione transferases genes polymorphisms in nevirapine adverse reactions: a possible role for GSTM1 in SJS/TEN susceptibility.

Ciccacci C, Latini A, Politi C, Mancinelli S, Marazzi MC, Novelli G, Palombi L, Borgiani P.

Eur J Clin Pharmacol. 2017 Oct;73(10):1253-1259. doi: 10.1007/s00228-017-2295-2. Epub 2017 Jul 8.

PMID:
28689274
25.

Pharmacogenetics of inflammatory bowel disease: a focus on Crohn's disease.

Rufini S, Ciccacci C, Novelli G, Borgiani P.

Pharmacogenomics. 2017 Jul;18(11):1095-1114. doi: 10.2217/pgs-2017-0068. Epub 2017 Jul 7.

PMID:
28686143
26.

A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation.

Capuano R, Spitalieri P, Talarico RV, Domakoski AC, Catini A, Paolesse R, Martinelli E, Novelli G, Sangiuolo F, Di Natale C.

Sci Rep. 2017 May 9;7(1):1621. doi: 10.1038/s41598-017-01790-5.

27.

The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.

Gambardella S, Ferese R, Biagioni F, Busceti CL, Campopiano R, Griguoli AMP, Limanaqi F, Novelli G, Storto M, Fornai F.

Front Cell Neurosci. 2017 Apr 18;11:102. doi: 10.3389/fncel.2017.00102. eCollection 2017. Review.

28.

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Ferradini V, Cassone M, Nuovo S, Bagni I, D'Apice MR, Botta A, Novelli G, Sangiuolo F.

Clin Chim Acta. 2017 Jul;470:1-7. doi: 10.1016/j.cca.2017.04.012. Epub 2017 Apr 17.

PMID:
28427807
29.

OLR1 and Loxin Expression in PBMCs of Women with a History of Unexplained Recurrent Miscarriage: A Pilot Study.

Bruno V, Rizzacasa B, Pietropolli A, Capogna MV, Massoud R, Ticconi C, Piccione E, Cortese C, Novelli G, Amati F.

Genet Test Mol Biomarkers. 2017 Jun;21(6):363-372. doi: 10.1089/gtmb.2016.0331. Epub 2017 Apr 14.

PMID:
28409654
30.

Restricted physical activity in pregnancy reduces maternal vascular resistance and improves fetal growth.

Vasapollo B, Lo Presti D, Gagliardi G, Farsetti D, Tiralongo GM, Pisani I, Novelli GP, Valensise H.

Ultrasound Obstet Gynecol. 2018 May;51(5):672-676. doi: 10.1002/uog.17489. Epub 2018 Apr 10.

PMID:
28397385
31.

Erratum to: IROA: International Register of Open Abdomen, preliminary results.

Coccolini F, Montori G, Ceresoli M, Catena F, Ivatury R, Sugrue M, Sartelli M, Fugazzola P, Corbella D, Salvetti F, Negoi I, Zese M, Occhionorelli S, Maccatrozzo S, Shlyapnikov S, Galatioto C, Chiarugi M, Demetrashvili Z, Dondossola D, Yovtchev Y, Ioannidis O, Novelli G, Nacoti M, Khor D, Inaba K, Demetriades D, Kaussen T, Jusoh AC, Ghannam W, Sakakushev B, Guetta O, Dogjani A, Costa S, Singh S, Damaskos D, Isik A, Yuan KC, Trotta F, Rausei S, Martinez-Perez A, Bellanova G, Fonseca VC, Hernández F, Marinis A, Fernandes W, Quiodettis M, Bala M, Vereczkei A, Curado RL, Fraga GP, Pereira BM, Gachabayov M, Chagerben GP, Arellano ML, Ozyazici S, Costa G, Tezcaner T, Ansaloni L.

World J Emerg Surg. 2017 Mar 9;12:13. doi: 10.1186/s13017-017-0127-4. eCollection 2017.

32.

IROA: International Register of Open Abdomen, preliminary results.

Coccolini F, Montori G, Ceresoli M, Catena F, Ivatury R, Sugrue M, Sartelli M, Fugazzola P, Corbella D, Salvetti F, Negoi I, Zese M, Occhionorelli S, Maccatrozzo S, Shlyapnikov S, Galatioto C, Chiarugi M, Demetrashvili Z, Dondossola D, Yovtchev Y, Ioannidis O, Novelli G, Nacoti M, Khor D, Inaba K, Demetriades D, Kaussen T, Jusoh AC, Ghannam W, Sakakushev B, Guetta O, Dogjani A, Costa S, Singh S, Damaskos D, Isik A, Yuan KC, Trotta F, Rausei S, Martinez-Perez A, Bellanova G, Fonseca VC, Hernández F, Marinis A, Fernandes W, Quiodettis M, Bala M, Vereczkei A, Curado RL, Fraga GP, Pereira BM, Gachabayov M, Chagerben GP, Arellano ML, Ozyazici S, Costa G, Tezcaner T, Ansaloni L.

World J Emerg Surg. 2017 Feb 21;12:10. doi: 10.1186/s13017-017-0123-8. eCollection 2017. Erratum in: World J Emerg Surg. 2017 Mar 9;12 :13.

33.

Maternal hemodynamics early in labor: a possible link with obstetric risk?

Valensise H, Tiralongo GM, Pisani I, Farsetti D, Lo Presti D, Gagliardi G, Basile MR, Novelli GP, Vasapollo B.

Ultrasound Obstet Gynecol. 2018 Apr;51(4):509-513. doi: 10.1002/uog.17447.

PMID:
28236342
34.

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

35.

LOX-1 and Its Splice Variants: A New Challenge for Atherosclerosis and Cancer-Targeted Therapies.

Rizzacasa B, Morini E, Pucci S, Murdocca M, Novelli G, Amati F.

Int J Mol Sci. 2017 Jan 29;18(2). pii: E290. doi: 10.3390/ijms18020290. Review.

36.

Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis.

Conigliaro P, Ciccacci C, Politi C, Triggianese P, Rufini S, Kroegler B, Perricone C, Latini A, Novelli G, Borgiani P, Perricone R.

PLoS One. 2017 Jan 20;12(1):e0169956. doi: 10.1371/journal.pone.0169956. eCollection 2017.

37.

Ku70, Ku80, and sClusterin: A Cluster of Predicting Factors for Response to Neoadjuvant Chemoradiation Therapy in Patients With Locally Advanced Rectal Cancer.

Pucci S, Polidoro C, Joubert A, Mastrangeli F, Tolu B, Benassi M, Fiaschetti V, Greco L, Miceli R, Floris R, Novelli G, Orlandi A, Santoni R.

Int J Radiat Oncol Biol Phys. 2017 Feb 1;97(2):381-388. doi: 10.1016/j.ijrobp.2016.10.018. Epub 2016 Oct 19.

PMID:
28068245
38.

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.

Campione E, Botta A, Di Prete M, Rastelli E, Gibellini M, Petrucci A, Bernardini S, Novelli G, Bianchi L, Orlandi A, Massa R, Terracciano C.

Neuromuscul Disord. 2017 Feb;27(2):163-169. doi: 10.1016/j.nmd.2016.11.004. Epub 2016 Nov 16.

PMID:
28065683
39.

Genome-wide association study of nevirapine hypersensitivity in a sub-Saharan African HIV-infected population.

Carr DF, Bourgeois S, Chaponda M, Takeshita LY, Morris AP, Castro EM, Alfirevic A, Jones AR, Rigden DJ, Haldenby S, Khoo S, Lalloo DG, Heyderman RS, Dandara C, Kampira E, van Oosterhout JJ, Ssali F, Munderi P, Novelli G, Borgiani P, Nelson MR, Holden A, Deloukas P, Pirmohamed M.

J Antimicrob Chemother. 2017 Apr 1;72(4):1152-1162. doi: 10.1093/jac/dkw545.

40.

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A.

Clin Genet. 2017 Oct;92(4):355-364. doi: 10.1111/cge.12954. Epub 2017 Feb 22. Review.

PMID:
27991661
41.

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Gambardella S, Biagioni F, Ferese R, Busceti CL, Frati A, Novelli G, Ruggieri S, Fornai F.

Front Neurosci. 2016 Nov 24;10:532. eCollection 2016. Review.

42.

Screening for pre-eclampsia in the first trimester: role of maternal hemodynamics and bioimpedance in non-obese patients.

Gagliardi G, Tiralongo GM, LoPresti D, Pisani I, Farsetti D, Vasapollo B, Novelli GP, Andreoli A, Valensise H.

Ultrasound Obstet Gynecol. 2017 Nov;50(5):584-588. doi: 10.1002/uog.17379.

PMID:
27925328
43.

A polymorphism upstream MIR1279 gene is associated with pericarditis development in Systemic Lupus Erythematosus and contributes to definition of a genetic risk profile for this complication.

Ciccacci C, Perricone C, Politi C, Rufini S, Ceccarelli F, Cipriano E, Alessandri C, Latini A, Valesini G, Novelli G, Conti F, Borgiani P.

Lupus. 2017 Jul;26(8):841-848. doi: 10.1177/0961203316679528. Epub 2016 Nov 23.

PMID:
27879428
44.

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.

Botta A, Rossi G, Marcaurelio M, Fontana L, D'Apice MR, Brancati F, Massa R, G Monckton D, Sangiuolo F, Novelli G.

Eur J Hum Genet. 2017 Feb;25(2):257-261. doi: 10.1038/ejhg.2016.148. Epub 2016 Nov 23.

45.

Beyond the cardiovascular risk charts: the new way of hybrid profiles.

Romeo F, Novelli G, Ferrari M, Talamo M.

J Cardiovasc Med (Hagerstown). 2016 Dec;17(12):851-854. No abstract available.

PMID:
27467546
46.

Polymorphisms in MIR122, MIR196A2, and MIR124A Genes are Associated with Clinical Phenotypes in Inflammatory Bowel Diseases.

Ciccacci C, Politi C, Biancone L, Latini A, Novelli G, Calabrese E, Borgiani P.

Mol Diagn Ther. 2017 Feb;21(1):107-114. doi: 10.1007/s40291-016-0240-1.

PMID:
27718165
47.

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Cassone M, Ferradini V, Longo G, Sarchielli P, Murasecco D, Romoli M, Pasquini E, Novelli G, Prontera P, Sangiuolo F.

Muscle Nerve. 2017 Jun;55(6):E24-E25. doi: 10.1002/mus.25407. Epub 2017 Mar 26. No abstract available.

PMID:
27639085
48.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2016 Sep 16;11(9):e0162866. doi: 10.1371/journal.pone.0162866. eCollection 2016. Erratum in: PLoS One. 2017 Feb 16;12 (2):e0172595.

49.

Biomolecular index of therapeutic efficacy in psoriasis treated with anti-TNF-α agents.

Bianchi L, Costanza G, Campione E, Ruzzetti M, Di Stefani A, Diluvio L, Giardina E, Cascella R, Cordiali-Fei P, Bonifati C, Chiricozzi A, Novelli G, Ensoli F, Orlandi A.

G Ital Dermatol Venereol. 2018 Jun;153(3):316-325. doi: 10.23736/S0392-0488.16.05427-4. Epub 2016 Sep 14.

50.

Recent advances in exploring the genetic susceptibility to diabetic neuropathy.

Politi C, Ciccacci C, D'Amato C, Novelli G, Borgiani P, Spallone V.

Diabetes Res Clin Pract. 2016 Oct;120:198-208. doi: 10.1016/j.diabres.2016.08.006. Epub 2016 Aug 26. Review.

PMID:
27596057

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