Giuseppe Novelli

Giuseppe Novelli

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Giuseppe Novelli

Publications by authors named "Giuseppe Novelli"

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Analysis of Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications.

Genes (Basel) 2020 07 3;11(7). Epub 2020 Jul 3.

Medical Genetics Laboratory, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.

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http://dx.doi.org/10.3390/genes11070741DOI Listing
July 2020

The differential response to anti IL-6 treatment in COVID-19: the genetic counterpart.

Clin Exp Rheumatol 2020 May-Jun;38(3):580. Epub 2020 May 10.

Rheumatology Unit, Department of Medicine, University of Perugia, Italy.

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June 2020

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.

Ann Hum Genet 2020 Jun 2. Epub 2020 Jun 2.

Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1111/ahg.12396DOI Listing
June 2020

Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease.

Hum Genomics 2020 06 10;14(1):22. Epub 2020 Jun 10.

Australia Institute of Tropical Health and Medicine, James Cook University, Smithfield, QLD, Australia.

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http://dx.doi.org/10.1186/s40246-020-00273-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283035PMC
June 2020

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery.

Hum Genomics 2020 06 26;14(1):25. Epub 2020 Jun 26.

Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.

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http://dx.doi.org/10.1186/s40246-020-00276-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318728PMC
June 2020

Genetics and Genomics of Breast Cancer: update and translational perspectives.

Semin Cancer Biol 2020 Apr 4. Epub 2020 Apr 4.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133, Rome, Italy; IRCCS Neuromed, Pozzilli, IS, Italy; Department of Pharmacology, School of Medicine, University of Nevada, Reno, NV, 89557, USA.

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http://dx.doi.org/10.1016/j.semcancer.2020.03.013DOI Listing
April 2020

The pursuit of good microbiological conditions in domestic softeners: a new improvement.

J Water Health 2020 Apr;18(2):200-206

University of Bologna, Via S. Donato 15, 40127 Bologna, Italy E-mail:

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http://dx.doi.org/10.2166/wh.2020.136DOI Listing
April 2020

Mitochondrial DNA Copy Number in Peripheral Blood Is Reduced in Type 2 Diabetes Patients with Polyneuropathy and Associated with a Gene Polymorphism.

DNA Cell Biol 2020 Apr 20. Epub 2020 Apr 20.

Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1089/dna.2019.5326DOI Listing
April 2020

Expression study of candidate miRNAs and evaluation of their potential use as biomarkers of diabetic neuropathy.

Epigenomics 2020 Apr 13;12(7):575-585. Epub 2020 May 13.

Department of Biomedicine & Prevention, Genetics Section, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.2217/epi-2019-0242DOI Listing
April 2020

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Clin Chim Acta 2020 Feb 12;501:154-164. Epub 2019 Nov 12.

Medical Genetics Unit, Tor Vergata Hospital, Rome, Italy; Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy; Marfan Syndrome Study Group, Tor Vergata Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2019.10.037DOI Listing
February 2020

Precision Medicine in Non-Communicable Diseases.

High Throughput 2020 Feb 7;9(1). Epub 2020 Feb 7.

Imperial College, Faculty of Medicine, School of Public Health, SW7 2AZ London, UK.

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http://dx.doi.org/10.3390/ht9010003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151056PMC
February 2020

Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea.

Eur J Hum Genet 2020 Jan 1;28(1):122-125. Epub 2019 Aug 1.

Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, QLD, 4878, Australia.

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http://dx.doi.org/10.1038/s41431-019-0461-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906290PMC
January 2020

Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.

Acta Derm Venereol 2019 Nov;99(12):1192-1194

Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta, 104, IT-00167 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3291DOI Listing
November 2019

Epigenetic Modification in Coronary Atherosclerosis: JACC Review Topic of the Week.

J Am Coll Cardiol 2019 09;74(10):1352-1365

Central Arkansas Veterans Healthcare System and the University of Arkansas for Medical Sciences, Little Rock, Arkansas. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2019.07.043DOI Listing
September 2019

miRNAs in drug response variability: potential utility as biomarkers for personalized medicine.

Pharmacogenomics 2019 09;20(14):1049-1059

Department of Biomedicine & Prevention, Genetics Section, University of Rome Tor Vergata, 00133, Rome, taly.

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http://dx.doi.org/10.2217/pgs-2019-0089DOI Listing
September 2019

Meeting report: the Human Genome Meeting (HGM) 2019 in Seoul, Korea.

Hum Genomics 2019 08 1;13(1):35. Epub 2019 Aug 1.

Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, QLD 4878, Australia.

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http://dx.doi.org/10.1186/s40246-019-0218-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6670184PMC
August 2019

A common polymorphism in MIR155 gene promoter region is associated with a lower risk to develop type 2 diabetes.

Acta Diabetol 2019 06 11;56(6):717-718. Epub 2019 Jan 11.

Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy.

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http://link.springer.com/10.1007/s00592-018-1277-x
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http://dx.doi.org/10.1007/s00592-018-1277-xDOI Listing
June 2019

Open abdomen and entero-atmospheric fistulae: An interim analysis from the International Register of Open Abdomen (IROA).

Injury 2019 Jan 24;50(1):160-166. Epub 2018 Sep 24.

Virginia Commonwealth University, Richmond, Virginia, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00201383183054
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http://dx.doi.org/10.1016/j.injury.2018.09.040DOI Listing
January 2019

Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection.

Aging Dis 2018 Dec 4;9(6):952-964. Epub 2018 Dec 4.

3Department of Orthopedics and Traumatology, "Tor Vergata" University of Rome, "Policlinico Tor Vergata" Foundation, Rome, Italy.

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http://www.aginganddisease.org/EN/10.14336/AD.2018.0215
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http://dx.doi.org/10.14336/AD.2018.0215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284754PMC
December 2018

Prospective Observational Study on acute Appendicitis Worldwide (POSAW).

Authors:
Massimo Sartelli Gian L Baiocchi Salomone Di Saverio Francesco Ferrara Francesco M Labricciosa Luca Ansaloni Federico Coccolini Deepak Vijayan Ashraf Abbas Hariscine K Abongwa John Agboola Adamu Ahmed Lali Akhmeteli Nezih Akkapulu Seckin Akkucuk Fatih Altintoprak Aurelia L Andreiev Dimitrios Anyfantakis Boiko Atanasov Miklosh Bala Dimitrios Balalis Oussama Baraket Giovanni Bellanova Marcelo Beltran Renato Bessa Melo Roberto Bini Konstantinos Bouliaris Daniele Brunelli Adrian Castillo Marco Catani Asri Che Jusoh Alain Chichom-Mefire Gianfranco Cocorullo Raul Coimbra Elif Colak Silvia Costa Koray Das Samir Delibegovic Zaza Demetrashvili Isidoro Di Carlo Nadezda Kiseleva Tamer El Zalabany Mario Faro Margarida Ferreira Gustavo P Fraga Mahir Gachabayov Wagih M Ghnnam Teresa Giménez Maurel Georgios Gkiokas Carlos A Gomes Ewen Griffiths Ali Guner Sanjay Gupta Andreas Hecker Elcio S Hirano Adrien Hodonou Martin Hutan Orestis Ioannidis Arda Isik Georgy Ivakhov Sumita Jain Mantas Jokubauskas Aleksandar Karamarkovic Saila Kauhanen Robin Kaushik Alfie Kavalakat Jakub Kenig Vladimir Khokha Desmond Khor Dennis Kim Jae I Kim Victor Kong Konstantinos Lasithiotakis Pedro Leão Miguel Leon Andrey Litvin Varut Lohsiriwat Eudaldo López-Tomassetti Fernandez Eftychios Lostoridis James Maciel Piotr Major Ana Dimova Dimitrios Manatakis Athanasio Marinis Aleix Martinez-Perez Sanjay Marwah Michael McFarlane Cristian Mesina Michał Pędziwiatr Nickos Michalopoulos Evangelos Misiakos Ali Mohamedahmed Radu Moldovanu Giulia Montori Raghuveer Mysore Narayana Ionut Negoi Ioannis Nikolopoulos Giuseppe Novelli Viktors Novikovs Iyiade Olaoye Abdelkarim Omari Carlos A Ordoñez Mouaqit Ouadii Zeynep Ozkan Ajay Pal Gian M Palini Lars I Partecke Francesco Pata Michał Pędziwiatr Gerson A Pereira Júnior Tadeja Pintar Magdalena Pisarska Cesar F Ploneda-Valencia Konstantinos Pouggouras Vinod Prabhu Padmakumar Ramakrishnapillai Jean-Marc Regimbeau Marianne Reitz Daniel Rios-Cruz Sten Saar Boris Sakakushev Charalampos Seretis Alexander Sazhin Vishal Shelat Matej Skrovina Dmitry Smirnov Charalampos Spyropoulos Marcin Strzałka Peep Talving Ricardo A Teixeira Gonsaga George Theobald Gia Tomadze Myftar Torba Cristian Tranà Jan Ulrych Mustafa Y Uzunoğlu Alin Vasilescu Savino Occhionorelli Aurélien Venara Andras Vereczkei Nereo Vettoretto Nutu Vlad Maciej Walędziak Tonguç U Yilmaz Kuo-Ching Yuan Cui Yunfeng Justas Zilinskas Gérard Grelpois Fausto Catena

World J Emerg Surg 2018 16;13:19. Epub 2018 Apr 16.

8Emergency Surgery, Mansoura University Hospital, Mansoura, Egypt.

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https://wjes.biomedcentral.com/articles/10.1186/s13017-018-0
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http://dx.doi.org/10.1186/s13017-018-0179-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902943PMC
September 2018

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Eur J Hum Genet 2018 09 11;26(9):1266-1271. Epub 2018 Jun 11.

Division of Nephrology, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1038/s41431-018-0183-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117343PMC
September 2018

Lamins and bone disorders: current understanding and perspectives.

Oncotarget 2018 Apr 27;9(32):22817-22831. Epub 2018 Apr 27.

CNR Institute of Molecular Genetics, Unit of Bologna, Bologna, Italy.

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http://dx.doi.org/10.18632/oncotarget.25071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5978267PMC
April 2018

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

Prog Retin Eye Res 2018 03 29;63:132-146. Epub 2017 Nov 29.

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Via Ardeatina 354, 00142, Rome, Italy; Department of Biomedicine and Prevention, ''Tor Vergata'' University, Via Montpellier 1, 00133, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2017.11.004DOI Listing
March 2018

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

Ageing Res Rev 2018 Mar 5;42:1-13. Epub 2017 Dec 5.

CNR Institute of Molecular Genetics, Unit of Bologna, Via di Barbiano 1/10, I-40136, Bologna, Italy; Rizzoli Orthopedic Institute, Via di Barbiano 1/10, I-40136, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.arr.2017.12.001DOI Listing
March 2018

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

Biochim Biophys Acta Mol Basis Dis 2018 Mar 29;1864(3):917-924. Epub 2017 Dec 29.

Dept. of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.12.037DOI Listing
March 2018

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

Neuromolecular Med 2018 03 5;20(1):1-17. Epub 2018 Jan 5.

Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.

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http://dx.doi.org/10.1007/s12017-017-8473-7DOI Listing
March 2018

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

J Diabetes Complications 2018 01 26;32(1):11-17. Epub 2017 Oct 26.

Department of Systems Medicine, Endocrinology, University of Rome "Tor Vergata", Italy.

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http://dx.doi.org/10.1016/j.jdiacomp.2017.10.011DOI Listing
January 2018

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

Eur J Clin Pharmacol 2017 Oct 8;73(10):1253-1259. Epub 2017 Jul 8.

Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.

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http://dx.doi.org/10.1007/s00228-017-2295-2DOI Listing
October 2017

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

Immunol Res 2017 08;65(4):811-827

Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133, Rome, Italy.

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http://dx.doi.org/10.1007/s12026-017-8937-8DOI Listing
August 2017

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Clin Chim Acta 2017 Jul 17;470:1-7. Epub 2017 Apr 17.

Dept of Biomedicine and Prevention, Tor Vergata University, via Montpellier, 1, 00133 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.04.012DOI Listing
July 2017

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

Pharmacogenomics 2017 Jul 7;18(11):1095-1114. Epub 2017 Jul 7.

Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Rome, Italy.

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http://dx.doi.org/10.2217/pgs-2017-0068DOI Listing
July 2017

Advances in Exploring the Role of Micrornas in Inflammatory Bowel Disease.

Microrna 2016 ;5(1):5-11

Department of Biomedicine and Prevention, Section of Genetics, School of Medicine, University of Rome "Tor Vergata", Rome, Italy.

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http://dx.doi.org/10.2174/2211536605666160111124812DOI Listing
June 2017

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

Muscle Nerve 2017 06 26;55(6):E24-E25. Epub 2017 Mar 26.

Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.

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http://dx.doi.org/10.1002/mus.25407DOI Listing
June 2017

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

Genet Test Mol Biomarkers 2017 Jun 14;21(6):363-372. Epub 2017 Apr 14.

3 Department of Biomedicine and Prevention, Section of Genetics, University of Rome Tor Vergata , Rome, Italy .

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http://dx.doi.org/10.1089/gtmb.2016.0331DOI Listing
June 2017

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

Mol Diagn Ther 2017 02;21(1):107-114

Department of Biomedicine and Prevention, Genetics Section, University of Rome "Tor Vergata", 00133, Rome, Italy.

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http://dx.doi.org/10.1007/s40291-016-0240-1DOI Listing
February 2017

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

Neuromuscul Disord 2017 Feb 16;27(2):163-169. Epub 2016 Nov 16.

Department of Systems Medicine, Division of Neurology, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy; Department of Experimental Medicine and Surgery, Division of Clinical Biochemistry, University of Rome Tor Vergata, Viale Oxford 81, 00133 Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.11.004DOI Listing
February 2017

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

Int J Radiat Oncol Biol Phys 2017 02 19;97(2):381-388. Epub 2016 Oct 19.

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Hospital Foundation Policlinico Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1016/j.ijrobp.2016.10.018DOI Listing
February 2017

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

Int J Mol Sci 2017 Jan 29;18(2). Epub 2017 Jan 29.

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome; Italy.

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http://dx.doi.org/10.3390/ijms18020290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343826PMC
January 2017

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

J Cardiovasc Med (Hagerstown) 2016 Dec;17(12):851-854

aUniversity of Rome Tor Vergata bINUIT Tor Vergata Foundation, Rome cVita Salute University of Milan, Italy.

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http://dx.doi.org/10.2459/JCM.0000000000000405DOI Listing
December 2016

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

Front Neurosci 2016 24;10:532. Epub 2016 Nov 24.

IRCCS NeuromedPozzilli, Italy; Department of Translational Research and New Technologies in Medicine and Surgery, University of PisaPisa, Italy.

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http://dx.doi.org/10.3389/fnins.2016.00532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121230PMC
November 2016

Mutational analysis of mitochondrial DNA in Brugada syndrome.

Cardiovasc Pathol 2016 Jan-Feb;25(1):47-54. Epub 2015 Oct 22.

Department of Biomolecular Sciences, University of Urbino Carlo Bo, Italy.

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http://dx.doi.org/10.1016/j.carpath.2015.10.001DOI Listing
October 2016

Recent advances in exploring the genetic susceptibility to diabetic neuropathy.

Diabetes Res Clin Pract 2016 Oct 26;120:198-208. Epub 2016 Aug 26.

Department of Systems Medicine, University of Rome Tor Vergata, via Montpellier 1, 00133 Rome, Italy.

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http://dx.doi.org/10.1016/j.diabres.2016.08.006DOI Listing
October 2016

The Genetics and the Genomics of Primary Congenital Glaucoma.

Biomed Res Int 2015 16;2015:321291. Epub 2015 Sep 16.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", 00133 Rome, Italy ; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, 00142 Rome, Italy.

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http://dx.doi.org/10.1155/2015/321291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588317PMC
August 2016

SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation and Reduced miR-335-5p Expression.

Int J Mol Sci 2016 Jul 30;17(8). Epub 2016 Jul 30.

Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier, 1, 00133 Rome, Italy.

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http://dx.doi.org/10.3390/ijms17081231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000629PMC
July 2016

Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis.

Pharmacogenomics 2016 06 7;17(8):943-51. Epub 2016 Jun 7.

Department of Biomedicine & Prevention, School of Medicine, University of Rome "Tor Vergata", via Montpellier 1, 00133 Rome, Italy.

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http://dx.doi.org/10.2217/pgs.16.20DOI Listing
June 2016

Human induced pluripotent stem cells for monogenic disease modelling and therapy.

World J Stem Cells 2016 Apr;8(4):118-35

Paola Spitalieri, Valentina Rosa Talarico, Michela Murdocca, Giuseppe Novelli, Federica Sangiuolo, Department of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, Italy.

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http://dx.doi.org/10.4252/wjsc.v8.i4.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835672PMC
April 2016

Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.

Electrophoresis 2016 Mar 15;37(5-6):860-4. Epub 2016 Jan 15.

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata,", Rome, Italy.

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http://dx.doi.org/10.1002/elps.201500346DOI Listing
March 2016

Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report.

BMC Med Genet 2016 Mar 9;17:18. Epub 2016 Mar 9.

Department of Systems Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.

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http://dx.doi.org/10.1186/s12881-016-0282-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784440PMC
March 2016

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

Biochim Biophys Acta 2015 Dec 21;1852(12):2645-52. Epub 2015 Sep 21.

Department of Geriatrics, Neuroscience and Orthopedics, Institute of Neurology, UCSC, Largo F. Vito 1, 00168 Rome Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.09.007DOI Listing
December 2015

Stevens-Johnson syndrome and toxic epidermal necrolysis: an update on pharmacogenetics studies in drug-induced severe skin reaction.

Pharmacogenomics 2015 Nov 10;16(17):1989-2002. Epub 2015 Nov 10.

Department of Biomedicine & Prevention, Genetics Unit, University of Rome "Tor Vergata", Italy.

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http://dx.doi.org/10.2217/pgs.15.128DOI Listing
November 2015

FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation.

J Am Acad Dermatol 2015 Sep;73(3):528-9

Department of Biomedicine and Prevention, School of Medicine, University of Rome "Tor Vergata", Rome, Italy; Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1016/j.jaad.2015.06.022DOI Listing
September 2015

Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

Neuroradiol J 2015 Jun;28(3):289-93

Medical Genetics Unit, Policlinico Tor Vergata University Hospital, Italy Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University, Italy

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http://dx.doi.org/10.1177/1971400915591688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757286PMC
June 2015