Curriculum Vitae Italian - Facoltà di Medicina e Chirurgia

GIUSEPPE NOVELLI
Breve Curriculum Vitae
Nato a Rossano (CS) il 27 Febbraio 1959.
RUOLO, TITOLI E RICONOSCIMENTI SCIENTIFICI
Professore Ordinario di Genetica Medica presso la Facoltà di Medicina e Chirurgia dell’Università di
Roma “Tor Vergata”. Già docente presso l’Università di Urbino, l’Università Cattolica del Sacro Cuore
di Roma.
Adjunct Professor, University of Arkansas for Medical Sciences, Little Rock, (USA) dal 2003.
Preside della Facoltà di Medicina e Chirurgia dell’Università di Roma “Tor Vergata”.
Direttore della U.O.C. Laboratorio di Genetica Medica del Policlinico Universitario di Tor Vergata.
Direttore della Scuola di Specializzazione in Genetica Medica dell’Università di Roma Tor Vergata e
delle Scuole Aggregate Sapienza, Chieti e Bari.
Direttore Scientifico Centro Ricerche Fatebenefratelli, Roma Ospedale S. Pietro.
E' componente di numerose società scientifiche tra cui, l'American Society of Human Genetics (USA),
l'European Society of Human Genetics (ESHG), lo Human Genome Organization (HUGO), la World
Muscle Society ed è stato membro e socio fondatore della Società Italiana di Genetica Umana (SIGU)
della quale ne è stato il segretario per il triennio 1997 - 2000.
Il Prof. Novelli ha ricevuto diversi riconoscimenti scientifici ed è responsabile di diversi progetti di
ricerca nazionale ed internazionali.
Il Prof. Novelli dal giugno 2007 è componente del Board della Società Europea di Genetica Umana
(ESHG) e dell’American Society of Gene Therapy (ASGT).
Il Prof. Novelli è componente dell'Editorial Board di Plos One (Academic Editor), Acta Myologica
(Co-Editor); Journal of Cardiovascular Medicine (Associate Editor), Clinical Genetics; BMC Medical
Genetics; Current Export Opinion in Pharmacotherapy, Neuromuscular Disorders (1999-2003),
Encyclopedia of Life Science for Genetics and Molecular Biology, Journal Inflammation & Allergy –
Drug Targets (IADT) , Journal of Pharmacogenomics & Pharmacoproteomics, Genetics Research
International, La Clinica Terapeutica, Journal of Cardiovascular Medicine.
Autore di 360 pubblicazioni scientifiche su riviste internazionali, 115 su riviste nazionali (compresi
capitoli di libri) e 4 monografie. Il suo H-index è di 44 con 12.900 citazioni.
Titolare dei brevetti:
MI2000A 002041 dal titolo: Metodo per la determinazione del Gene SMN1; "Polyclonal antibody
versus the UBE34A protein" ;
PCT/IT 2006/000470; RM2005A000325. “Determinazione e rivelazione della Loxina).
RM 2010 A 000527 “Metodo fluorescente per lo screening di HLA-B*5701”.
Ha conseguito 8 premi scientifici.
SERVIZI ED INCARICHI PRESTATI NEGLI ATENEI E IN ALTRI ENTI
E’ stato componente della Commissione di Studio sulla Utilizzazione delle Cellule Staminali c/o
Dipartimento della Programmazione del Ministero della Sanità.
Componente della Commissione Nazionale Post-Genoma del Ministero dell'Università e della Ricerca
Scientifica e Tecnologica (MURST).
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Rappresentante per l'Italia presso l'OECD (Organisation for Economic Co-Operation and
Development) per i test genetici;
E’ stato componente della Commissione Nazionale “Test Genetici” presso il Ministero della Salute;
E’ stato componente della Commissione “Cellule Staminali” del Comitato Nazionale Biotecnologie e
Biosicurezza presso la Presidenza del Consiglio;
E’ componente della Commissione Nazionale Francese “ GROUPE D’EXPERTS EN GENETIQUE
MOLECULAIRE, Maladies neurologiques, musculaires, neuro-sensorielles et retards mentaux,
presso il Ministère de la Santé, de la Famille et des Personnes Handicapées (Parigi).
E’ componente della Commissione “ Biosicurezza” del Comitato Nazionale Biotecnologie e
Biosicurezza presso la Presidenza del Consiglio.
E’ componente del PGWP (Pharmacogenetics Working Party) presso l’EMEA (European Medicines
Agency) (Londra).
E’ delegato UE all’ICH (International Conference fo Harmonisation).
E’ componente della Gruppo di Lavoro “Esperti di Terapie Avanzate” presso l’Agenzia Italiana del
Farmaco (Roma).
E’ Componente del Tavolo Malattie Rare per la Regione Lazio presso il Ministero della Salute.
Esperto del Consiglio Superiore di Sanità triennio 2007-2009.
E’ Componente del “Board dell’European Science Foundation (ESF)”
Esperto valutatore della « Agence d’évaluation de la recherche et de l’enseigneraient supérieur
(AERES)», France.
E’ Esperto valutatore del “National Research Agency” (ANR), France.
E’ Presidente del Comitato Scientifico della Fondazione “Livio Patrizi”, Roma
E’ Membro del Comitato Etico del Policlinico Tor Vergata Roma
E’ Membro del Comitato Etico del Ministero della Difesa.
E’ Componente dell’Osservatorio Nazionale dalla Formazione Medica Specialistica. Presso il MIUR
dal 2011.
E’ Componente del Tavolo di Concertazione MIUR-MS per la realizzazione di iniziative di
internazionalizzazione della ricerca nei settori correlati alla salute ed alla qualità della vita, ed in
particolare d’implementazione delle iniziative di programmazione congiunta della ricerca europea.
Membro Consiglio Scientifico Fondazione Italiana Cuore e Circolazione
E’ socio:
American Society of Human Genetics (ASHG), 1988.
European Society of Human Genetics, Board (ESHG), 1989.
Italian Society of Human Genetics (SIGU), 1997, Founder Member.
Human Genome Organization (HUGO), 1990
American Society of Gene Therapy, Board Committee (ASGT), 2005.
Public Population Project in Genomics (P3G), 2005
African Society of Human Genetics (AfSHG), 2007.
Accademia Medica di Roma, 2008
Oligonucleotide Therapeutics Society (OTS), 2010
ATTIVITA' SCIENTIFICA
Il Prof. Giuseppe Novelli si è occupato prevalentemente di tematiche di Genetica biochimica, Genetica
umana, Genetica medica e Genetica molecolare. Nell’ambito di queste tematiche, il prof. Novelli ha
contribuito alla identificazione di numerosi geni responsabili di malattie genetiche nell’uomo e
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scoperto la causa della malattia di Laron, della displasia mandibulo acrale e quindi dell’invecchiamento
precoce su base genetica, di alcune forme di psoriasi ed ha identificato una nuova proteina importante
nella protezione dell’infarto del miocardio (loxina). Altre ricerche principali del prof. Novelli hanno
riguardato la messa a punto di metodi innovativi per la terapia genica e la scoperta dei geni associati
alal psoriasi. Gli studi attuali del prof. Novelli sono rivolti alla cura delle malattie ereditarie e allo
sviluppo di nuovi farmaci e la farmacogenetica.
Finanziamenti per ricevuti negli ultimi 5 anni:
 2002-2004: “Genetics and Genomics of Atherosclerosis” Italian Ministry of University and
Research.
 2002-2004: ”Dissecting mendelian phenotypes” Italian Ministry of University and Research (Fondi
FIRB).
 2002-2004: “Operative network on Neuromuscular Disorders”, Italian Ministry of Health.
 2002-2004:” Neurogenetics of neurodegenerative Disorders” Italian Ministry of Health.
 2002-2004: “ Research of cystic fibrosis phenotype modifier genes” Italian Ministry of Education,
University and Research.
 2003- 2005: “MAD and laminophaties” Italian Telethon.
 2005-2007: Pathophysiology and therapeutical approaches in MADA, a rare progeroid syndrome.
Rare Disease Project: Conv. N. 526/A13. Italian National Institute of Health.
 2005-2009: EU Grant FP6 NACBO “Novel and improved nanomaterials, chemistries and apparatus
for nanobiotechnology”.
 2005-2007: AIRC (Italian Association for Cancer Research) “Genomics of Human Prostate
Cancer”.
 2005-2007: Congentital heart defects: genetics, embryology and clinical apsects. Italina Ministry of
University and Reseaerch.
 2004-2007: Genetics of Cystic Fibrosis. Regione Lazio, Italy.
 2005-2008: EU Grant FP6-2004-LIFESCIHEALTH-5: Nuclear Envelope-linked Rare Human
Diseases: From Molecular Pathophysiology towards Clinical
 2006-2008: Biomarkers identification in heart failure. Italian Ministry of Health.
 2005-2007: Myotonic dystrophy type 1 and type : from pathogenesis to development of innovative
gene therapies (PRIN # 2005064759). Italian Ministry of University and Research.
 2006-2007: Development of screening programs for beta-thalassemia prevention in Albania. Italian
Ministry for Foreign Affairs
 2007-2008: Development of screening programs for cystic fibrosis prevention in Albania. Italian
Ministry for Foreign Affairs.
 2006-2008: Causes, evolution and progression of nasal polyps; role of modifier genes and a new
approach through CGH array. Cystic Fibrosis Foundation Italy.
 2007-2009: Development of an RNA interference-based system for the molecular cell therapy of
myotonic dystrophy. Italian Telethon Grant.
 2007-2009: Identification of biomarkers during steorid doping. Italian Ministry of Health.
 2007-2009: Study of efficacy of statins in association with biphosphonate in Mandibuoloacral
dysplasia and Hutchinson-Gilford Progeria. Italian Drug Agency (AIFA). Approved.
 2008-2010: New Gene therapy approach for DM1 and DM2. Association Franciase contre le
Myopathies, FM (France). Approved.
 2009-2012 EU-FP7, BIO-NMD, Identifying and validating pre-clinical biomarkers for diagnostics
and therapeutics of Neuromuscular Disorders. Approved.
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2010-2012: ““Lipid metabolism and cancer: LOX-1 a new potential molecular target in colon
cancer therapy”. Fondazione Umberto Veronesi.
Organizzazione di Conferenze Internazionali
1) Genome Medicine: Gene Therapy for the Millennium, 30 September – 3 October, 2001, Rome, Italy.
Co-organizer
2) EMBO WORKSHOP 2005 ”CHROMOSOME STRUCTURAL ELEMENTS: FROM DNA
SEQUENCE TO FUNCTION”. Villa Mondragone, Monte Porzio Catone, Rome, Italy September 29October 3, 2005 Session Chair and Speaker at EMBO meeting on Chromosome Structural Elements,
Sept 05, Rome, Italy. Co-organizer, Session Chair and Speaker.
3) 141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project
"Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical
Applications", 10-12 March 2006, Naarden, The Netherlands. Co-organizer and speaker.
4) FP6 EU Meeting "Euro-Laminopathies" –Monte Porzio Catone, Roma, 23-25 marzo 2007. Coorganizer and Chair of session
5) EMBO Workshop 2009 “The Multiple faces of lamins in aging & Disease” 6-9 January, 2009,
IMBA, Vienna, Austria. Scientific Organiser.
6) II Conferénce scientifique méditerraéenne Parmenides-GIS Espace méditerranéen de la science”
GID Academic Group for Development. Rome, October 12-14th, 2009
Invited speaker in International Conferences (2002-2009)
1. “Genetics of atherosclerosis” 2nd International Symposium “CAD in the new millennium: from
bench to bedside” Rome, June 3rd-4th, 2002
2. “Les Mutations Génétiques”. Journée Franco-Italienne « Génome humain et biotechnologies ».
Paris, 14 Juin 2002.
3. “Rare diseases and orphan drugs”. International Conference “Pharmacogenomics and
Pharmacogenetics”. Rome, September 18th-23rd, 2006
4. “Science between advancement of knowledge and global market: ethics and practice of
research in the third millennium”. International Conference “Geni, Genomi e Malattie
dell’uomo”. Rome, October 16th 2003
5. “Update on atopic eczema/Dermatisis Syndrome. Croatia, April 25th-28th, 2004
6. “Cardiac Pacing and Electrophisiology” World Congress. Rome, December 2nd-6th, 2007
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7. “Genomics research in Africa Implications for disease diagnosis Treatment and Drug
Development”. AfSHG the Annual Meeting of the African Genetic. “Genomic Biomarker in
Pharmacogenetics and Pharmacogenomics”. El Cairo, November 2nd-5th, 2007
8. “Update on HIV and related Co-infections”. I International Workshop. Venice, November 13th14th, 2007
9. “Pharmacogenetics of cardiovascular disease” III Congreso de la Sociedad Espanola de
Farmacogenetica y Farmacogenomica. Santiago de Compostela, November 15th-17th, 2007
10. “Genetics therapy and Stem Cell”. California Pacific Institute San Francisco SFHR, October
26th, 2007.
11. “Pharmacogenetics of Osteoarticular Disorders” 2 International Meeting “Genetic Tests and
Genomic Biomarkers: Regulation, Qualification and Validation”. Florence, April 19th, 2008.
12. “Joint Technology Initiative. Innovative Medicines Initiative (IMI), MIUR Rome, February
19th-23rd 2009.
13. “XV Sitox National Congress” Italian Society of Toxicology, Verona, January 19th-22nd
2009.
14. “ DNA data-base for Italy? Criminal Investigations and new Technologies”, Rome, January
27th, 2009.
15. “XIII National SIDOC Congress”, Italian Society of Conservative Dentistry, Rome February
19th-22nd, 2009.
16. “National SIFR Congress”, Italian Society of Physiopathology and Reproduction, Padua,
February 2009.
17. “Science and Public Health”, GID Groupe Inter-académicque pour le Développment, Rome,
March 3rd-4th, 2009.
18. “Bio & Medical Sciences With New Light Sources, British Embassy Rome, March 12nd-13th,
2009.
19. “XXIVNational SIDCO Congress”Italian Society of Dermatology and Oncology”, Modena,
April 15th-18th 2009.
20. HealthCare Biotech, i-techpartner, “The future for applied healthcare research£, March 1st-3rd,
2009, Rome (Italy)
21. “Italia-USA collaborative programme.Final Report Meeting”National Center for Rare
Diseases”Rome, April 15th-16th, 2009.
22. Santiago de Compostela (Spain), International Workshop on Familial Lipodystrophies, April 34 th, 2009 “Clinical features and molecular basis of madibuloacral dysplasia
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23. “Haemocoagulative Disorders in Obstetrics and Gynecology”, Rossano Scalo, Italy, May 16th,
2009.
24. “Neurodegeneration” National Research Council (CNR), Rome ,Italy May 18th-20th, 2009.
25. “59° National A.I.Pa.C.Me.M Congress” Italian Society of Pathology, Rome, May 12nd-15th,
2009.
26. “National S.I.D.I.P Congress” Italian Society of Prenatal Diagnosis, Rome May 15th-16th,
2009.
27. “Heart Scilla Congress”, I.C.C.P., Italian Council of Cardiology Practice, Scilla Italy, May
20th-21st-22nd-23rd, 2009.
28. “ Epidemiological data and strategies for diagnoses and control of genetic diseases in the
genomic era”Vilnius University (Lithuania), ESHG/LSHG Courses for Laboratory Medical
Geneticists: Translating Genomics into the Clinics, 29 May-1 June, 2009.
29. “ICH Sc EWG/IWG Yokohama Meetings” „ICH Japan Symposium 2009”, Japan June 6th11th, 2009.
30. Meeting “Vers un Espace méditerranéen de la Science“ GID Academic Group for
Development, Paris, June 21st-22nd, 2009.
31. BioMonterrey 08, International Biotechnology Congress and Exhibition. “Bioscience and
Biotechnology for Social Welfare” October 15-17th, 2008, CINTERMEX (Monterrey,
Mexico). “The future of forensic DNA analysis”
32. ICT that makes the difference The future of Ambient Intelligence and ICT for Security 22-25
November 2009; Brussels, Belgium;
33. “ From Pharmacogenetics to Personalised Cancer Therapy “, Aviano Italy, December 14th,
2009.
34. “70° National SIC Congress” Italian Society of Cardiology, Rome December 13rd-15th, 2009.
35. “Gene targeting in pluri potent cells”. Sixth Annual Meeting of the Oligonucleotide
Therapeutics Society was held October 20-23, 2010, in Dana Point, California.
36. “Cancer as a genomic disease”. First Tirana Mediterranean Cancer Congress. Tirana, Albania,
April 29-30, 2011.
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Recent and Relevant Articles (selected from 2007-2010)
Falconi M, Biocca S, Novelli G, Desideri A. Molecular dynamics simulation of human LOX-1
provides an explanation for the lack of OxLDL binding to the Trp150Ala mutant. BMC Struct Biol.
2007 Nov 7;7:73. PMID: 17988382 [PubMed - indexed for MEDLINE].
o Borgiani P, Perricone C, Ciccacci C, Romano S, Novelli G, Biancone L, Petruzziello C,
Pallone F. Interleukin-23R Arg381Gln is associated with susceptibility to Crohn's
disease but not with phenotype in an Italian population. Gastroenterology. 2007
Sep;133(3):1049-51; author reply 1051-2. PMID: 17854611 [PubMed - indexed for
MEDLINE].
o Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V,
Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM,
Sbraccia P, Novelli G. Compound heterozygosity for mutations in LMNA in a patient
with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin
Endocrinol Metab. 2007 Nov;92(11):4467-71. Epub 2007 Sep 11. PMID: 17848409
[PubMed - indexed for MEDLINE].
o Cipollone D, Carsetti R, Tagliani A, Rosado MM, Borgiani P, Novelli G, D'Amati G,
Fumagalli L, Marino B, Businaro R. Folic acid and methionine in the prevention of
teratogen-induced congenital defects in mice. Cardiovasc Pathol. 2008 Apr 14; [Epub
ahead of print] PMID: 18417366 [PubMed - as supplied by publisher].
o Vecchione L, Gargiul E, Borgiani P, Predazzi I, Mango R, Romeo F, Magnani M,
Novelli G. Genotyping OLR1 gene: a genomic biomarker for cardiovascular diseases.
Recent Patents Cardiovasc Drug Discov. 2007 Jun;2(2):147-51. PMID: 18221114
[PubMed - indexed for MEDLINE]
o Biocca S, Filesi I, Mango R, Maggiore L, Baldini F, Vecchione L, Viola A, Citro G,
Federici G, Romeo F, Novelli G. The splice variant LOXIN inhibits LOX-1 receptor
function through hetero-oligomerization. J Mol Cell Cardiol. 2008 Mar;44(3):561-70.
Epub 2007 Dec 7. PMID: 18191942 [PubMed - in process].
o Alghisi F, Angioni A, Tomaiuolo AC, D'Apice MR, Bella S, Novelli G, Lucidi V.
Diagnosis of atypical CF: A case-report to reflect. J Cyst Fibros. 2008 Jan 2; [Epub
ahead of print] PMID: 18180206 [PubMed - as supplied by publisher]
o Perricone C, Borgiani P, Romano S, Ciccacci C, Fusco G, Novelli G, Biancone L,
Calabrese E, Pallone F. ATG16L1 Ala197Thr is not associated with susceptibility to
Crohn's disease or with phenotype in an Italian population. Gastroenterology. 2008
Jan;134(1):368-70. No abstract available. PMID: 18166373 [PubMed - indexed for
MEDLINE].
o Mattioli E, Columbaro M, Capanni C, Santi S, Maraldi NM, D'Apice MR, Novelli G,
Riccio M, Squarzoni S, Foisner R, Lattanzi G.Drugs affecting prelamin A processing:
effects on heterochromatin organization. Exp Cell Res. 2008 Feb 1;314(3):453-62. Epub
2007 Nov 24. PMID: 18093584 [PubMed - indexed for MEDLINE].
o Giardina E, Pietrangeli I, Martone C, Asili P, Predazzi I, Marsala P, Gabriele L, Pipolo
C, Ricci O, Solla G, Sineo L, Spinella A, Novelli G. In silico and in vitro comparative
analysis to select, validate and test SNPs for human identification. BMC Genomics.
2007 Dec 12;8:457. PMID: 18076761 [PubMed - indexed for MEDLINE].
o Borgiani P, Ciccacci C, Forte V, Romano S, Federici G, Novelli G. Allelic variants in
the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose
effect of warfarin in Italians. Pharmacogenomics. 2007 Nov;8(11):1545-50. PMID:
18034619 [PubMed - in process].
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o Giardina E, Paolillo N, Sinibaldi C, Novelli G. R501X and 2282del4 filaggrin mutations
do not confer susceptibility to psoriasis. and atopic dermatitis in Italian patients.
Dermatology. 2008;216(1):83-4. No abstract available. PMID: 18032906 [PubMed indexed for MEDLINE].
o Pisani V, Panico MB, Terracciano C, Bonifazi E, Meola G, Novelli G, Bernardi, G,
Angelini C, Massa R. Preferential central nucleation of type 2 myofibers is an invariable
feature of myotonic dystrophy type 2. Muscle Nerve. 2008 Nov;38(5):1405-11.PMID:
18816606 [PubMed - in process].
o Conte C, Gambardella S, Bulli C, Rinaldi F, Di Marino D, Falconi M, Bramanti P,
Desideri A, Novelli G. Screening of EDA1 gene in X-linked anhidrotic ectodermal
dysplasia using DHPLC: identification of 14 novel mutations in Italian patients. Genet
Test. 2008 Sep;12(3):437-42. PMID: 18666859 [PubMed - in process].
o di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G. The R527H mutation in
LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle. 2008 Jul
1;7(13):2030-7. Epub 2008 Apr 11. PMID: 18604166 [PubMed - indexed for
MEDLINE].
o Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S,
Borgiani P, Coletta M, Novelli G. Increased release and activity of matrix
metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature
ageing syndrome. Clin Genet. 2008 Oct;74(4):374-83. Epub 2008 Jun 28. PMID:
18554282 [PubMed - in process].
o Cipollone D, Carsetti R, Tagliani A, Rosado MM, Borgiani P, Novelli G, D'Amati G,
Fumagalli L, Marino B, Businaro R. Folic acid and methionine in the prevention of
teratogen-induced congenital defects in mice. Cardiovasc Pathol. 2008 Apr 14. [Epub
ahead of print] PMID: 18417366 [PubMed - as supplied by publisher].
o Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, D'Apice MR,
Bettin MD, Pignatti PF, Castaldo G, Novelli G. Epidemiology and a novel procedure for
large scale analysis of CFTR rearrangements in classic and atypical CF patients: a
multicentric Italian study. J Cyst Fibros. 2008 Sep;7(5):347-51. Epub 2008 Feb 14.
PMID: 18280224 [PubMed - in process].
o Corradini C, Gullotta F, Ciacci S, Palmieri G, Salehi LB, De Corso E, Novelli G,
Gambardella S. Hyperproliferation in nasal polyposis tissues is not associated with
somatic genomic instability. J Otolaryngol Head Neck Surg. 2008 Aug;37(4):510-4.
PubMed PMID: 19128585.
o Alghisi F, Bella S, Lucidi V, Angioni A, Tomaiuolo AC, D'Apice MR,Gambardella S,
Novelli G. Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing
common mild CFTR mutation: report on CFTR mutations and their phenotypic
variability. Pancreas. 2009 Jan;38(1):109-10. PubMed PMID: 19106752.
o Giardina E, Predazzi I, Pietrangeli I, Asili P, Marsala P, Gabriele L, Pipolo C, Ricci O,
Martone C, Spinella A, Novelli G. Frequency assessment of SNPs for forensic
identification in different populations. Forensic Sci Int Genet. 2007 Dec;1(3-4):e1-3.
Epub 2007 Jun 19. PubMed PMID: 19083763.
o Giardina E, Peconi C, Cascella R, Sinibaldi C, Nardone AM, Novelli G. A multiplex
molecular assay for the detection of uniparental disomy for human chromosome 15.
Electrophoresis. 2008 Dec;29(23):4775-9. PubMed PMID: 19053076.
o Rinaldi F, Botta A, Vallo L, Contino G, Morgante A, Iraci R, Catalli C, Silvestri G,
Ventriglia VM, Politano L, Novelli G. Analysis of Single Nucleotide Polymorphisms
(SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as
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genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. Acta
Myol. 2008 Dec;27:82-9. PubMed PMID: 19472917.
Giardina E, Pietrangeli I, Martínez-Labarga C, Martone C, de Angelis F, Spinella A, De
Stefano G, Rickards O, Novelli G. Haplotypes in SLC24A5 Gene as Ancestry
Informative Markers in Different Populations. Curr Genomics. 2008 Apr;9(2):110-4.
PubMed PMID: 19440451; PubMed Central PMCID: PMC2674805.
Dominici S, Fiori V, Magnani M, Schena E, Capanni C, Camozzi D, D'Apice MR, Le
Dour C, Auclair M, Caron M, Novelli G, Vigouroux C, Maraldi NM, Lattanzi G.
Different prelamin A forms accumulate in human fibroblasts: a study in experimental
models and progeria. Eur J Histochem. 2009 Jan-Mar;53(1):43-52. PubMed PMID:
19351612.
Cardani R, Baldassa S, Botta A, Rinaldi F, Novelli G, Mancinelli E, Meola G.
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast
differentiation but alter gene splicing in myotonic dystrophy type 2. Neuromuscul
Disord. 2009 May;19(5):335-43 Epub 2009 Apr 3. PubMed PMID: 19345584.
Conte C, D'Apice MR, Botta A, Sangiuolo F, Novelli G. Prenatal diagnosis of Cockayne
syndrome type A based on the identification of two novel mutations in the ERCC8 gene.
Genet Test Mol Biomarkers. 2009 Feb;13(1):127-31. PubMed PMID: 19309286.
Biocca S, Falconi M, Filesi I, Baldini F, Vecchione L, Mango R, Romeo F,Federici G,
Desideri A, Novelli G. Functional analysis and molecular dynamics simulation of LOX1 K167N polymorphism reveal alteration of receptor activity. PLoS ONE.
2009;4(2):e4648. Epub 2009 Feb 27. PubMed PMID: 19247493; PubMed Central
PMCID: PMC2645694.
Borgiani P, Ciccacci C, Forte V, Sirianni E, Novelli L, Bramanti P, Novelli G. CYP4F2
genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the
Italian population. Pharmacogenomics. 2009 Feb;10(2):261-6. PubMed PMID:
19207028.
Bellia A, Giardina E, Lauro D, Tesauro M, Di Fede G, Cusumano G, Federici M, Rini
GB, Novelli G, Lauro R, Sbraccia P. "The Linosa Study": Epidemiological and
heritability data of the metabolic syndrome in a Caucasian genetic isolate. Nutr Metab
Cardiovasc Dis. 2009 Feb 5. [Epub ahead of print] PubMed PMID: 19201175.
de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN,Giardina
E, Stuart PE, Nair R, Helms C, Escaramís G, Ballana E, Martín-Ezquerra G, den Heijer
M, Kamsteeg M, Joosten I, Eichler EE, Lázaro C, Pujol RM, Armengol L, Abecasis G,
Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X.
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility
factor for psoriasis. Nat Genet. 2009 Feb;41(2):211-5. Epub 2009 Jan 25. PubMed
PMID: 19169253.
Giardina E, Pietrangeli I, Martone C, Zampatti S, Marsala P, Gabriele L, Ricci O, Solla
G, Asili P, Arcudi G, Spinella A, Novelli G. Whole genome amplification and real-time
PCR in forensic casework. BMC Genomics. 2009 Apr 14;10:159. PubMed PMID:
19366436; PubMed Central PMCID: PMC2675535.
Pietrangeli I, Caruso V, Veneziano L, Spinella A, Arcudi G, Giardina E,Novelli G.
Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims.
J Forensic Sci. 2009 Jul;54(4):905-8. Epub 2009 Apr 17. PubMed PMID: 19486439
Predazzi IM, Martínez-Labarga C, Vecchione L, Mango R, Ciccacci C, Amati F, Ottoni
C, Crawford MH, Rickards O, Romeo F, Novelli G. Population differences in allele
frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk
9
events. Ann Hum Biol. 2009 Dec 6. [Epub ahead of print] PMID: 19961348 [PubMed as supplied by publisher]
o Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris
V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L,
Bernasconi S, Superti-Furga A, Novelli G. Mandibuloacral dysplasia type A in
childhood. Am J Med Genet A. 2009 Oct;149A(10):2258-64. PubMed PMID:
19764019.
o Giardina E, Peconi C, Cascella R, Sinibaldi C, Foti Cuzzola V, Nardone AM,Bramanti
P, Novelli G. A multiplex molecular assay for the detection of uniparental disomy for
human chromosome 7. Electrophoresis. 2009 Jun;30(11):2008-11. PubMed PMID:
19517448.
o Baghernajad-Salehi L, D'Apice MR, Babameto-Laku A, Biancolella M, Mitre A,Russo
S, Di Daniele N, Sangiuolo F, Mokini V, Novelli G. A pilot beta-thalassaemia screening
program in the Albanian population for a health planning program. Acta Haematol.
2009;121(4):234-8. Epub 2009 Jun 29. PubMed PMID: 19556751.
o Menghini R, Casagrande V, Cardellini M, Martelli E, Terrinoni A, Amati F, VasaNicotera M, Ippoliti A, Novelli G, Melino G, Lauro R, Federici M. MicroRNA 217
modulates endothelial cell senescence via silent information regulator 1. Circulation.
2009 Oct 13;120(15):1524-32. Epub 2009 Sep 28. PubMed PMID: 19786632.
o Novelli G, Borgiani P, Ciccacci C, Di Daniele N, Sirugo G, Papaluca Amati M.
Pharmacogenomics: Role in Medicines Approval and Clinical Use. Public Health
Genomics. 2009 Oct 6. [Epub ahead of print] PubMed PMID: 19815999.
o Ricci F, Zampatti S, D'Abbruzzi F, Missiroli F, Martone C, Lepre T, Pietrangeli I,
Sinibaldi C, Peconi C, Novelli G, Giardina E. Typing of ARMS2 and CFH in agerelated macular degeneration: case-control study and assessment of frequency in the
Italian population. Arch Ophthalmol. 2009 Oct;127(10):1368-72. PubMed PMID:
19822855.
o Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G,
Crow Y. Atypical progeroid syndrome due to heterozygous missense LMNA mutations.
J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83. Epub 2009 Oct 29. PubMed PMID:
19875478.
o Predazzi IM, Martínez-Labarga C, Vecchione L, Mango R, Ciccacci C, Amati F,Ottoni
C, Crawford MH, Rickards O, Romeo F, Novelli G. Population differences in allele
frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk
events. Ann Hum Biol. 2009 Dec 6. [Epub ahead of print] PubMed PMID: 19961348.
Cinzia Ciccacci, Paola Borgiani, Susanna Ceffa, Elisabetta Sirianni, Maria C Marazzi, Anna M Doro
Altan, Giovanna Paturzo, Placido Bramanti, Giuseppe Novelli, Leonardo Palombi. Nevirapine-induced
hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique.
Pharmacogenomics, January 2010, Vol. 11, No. 1, Pages 23-31.
Gambardella S, Rinaldi F, Lepore SM, Viola A, Loro E, Angelini C, Vergani L, Novelli G, Botta A.
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.. J
Transl Med. 2010 May 20;8(1):48.
Cazzola M., Novelli G:.Biomarkers in COPD. Pulm Pharmacol Ther. 2010 May 13. [Epub ahead of
print]. PMID: 20471487 [PubMed - as supplied by publisher]
Pietrangeli I, Ottaviani E, Martone C, Gabriele L, Arcudi G, Potenza S, Spinella A, Giardina E, Novelli
G.. Frequency assessment of 25 SNPs in five different populations. Forensic Sci Int Genet. 2010 Feb
20. [Epub ahead of print]. PMID: 20457086 [PubMed - as supplied by publisher].
10
Loro E, Rinaldi F, Malena A, Masiero E, Novelli G, Angelini C, Romeo V, Sandri M, Botta A, Vergani
L. Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells. Cell Death
Differ. 2010 Apr 30. [Epub ahead of print]. PMID: 20431600 [PubMed - as supplied by publisher].
Bergboer JG, Zeeuwen PL, Irvine AD, Weidinger S, Giardina E, Novelli G, Heijer MD, Rodriguez E,
Illig T, Riveira-Munoz E, Campbell LE, Tyson J, Dannhauser EN, O'Regan GM, Galli E, Klopp N,
Koppelman GH, Novak N, Estivill X, McLean WH, Postma DS, Armour JA, Schalkwijk J. Deletion of
Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis. J Invest
Dermatol. 2010 Apr 8. [Epub ahead of print] PMID: 20376060 [PubMed - as supplied by publisher].
Kang BY, Hu C, Ryu S, Khan JA, Biancolella M, Prayaga S, Seung KB, Novelli G, Mehta P, Mehta
JL.Genomics of cardiac remodeling in angiotensin II-treated wild-type and LOX-1-deficient mice.
Physiol Genomics. 2010 Jun;42(1):42-54. Epub 2010 Mar 23. PMID: 20332185 [PubMed - in process].
Romeo V, Pegoraro E, Ferrati C, Squarzanti F, Sorarù G, Palmieri A, Zucchetta P, Antunovic L,
Bonifazi E, Novelli G, Trevisan CP, Ermani M, Manara R, Angelini C.. Brain involvement in myotonic
dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2. J Neurol.
2010 Mar 11. [Epub ahead of print] PMID: 20221771 [PubMed - as supplied by publisher].
Massa R, Panico MB, Caldarola S, Fusco FR, Sabatelli P, Terracciano C, Botta A, Novelli G, Bernardi
G, Loreni F. The Myotonic Dystrophy type 2 gene product ZNF9 is associated with sarcomeres and
normally localized in DM2 patients' muscles. Neuropathol Appl Neurobiol. 2010 Jan 20. [Epub ahead
of print] PMID: 20102514 [PubMed - as supplied by publisher]. Related citations
o Minella D, Biancolella M, Testa B, Prosperini G, Zenobi R, Novelli G, Giganti MG.
Androgen- and insulin-related gene signature using a specific low density oligoarray
androchip 2 in peripheral blood mononuclear cells in agonists, recreational athletes and
sedentary subjects. J Biol Regul Homeost Agents. 2010 Oct-Dec;24(4):413-23. PubMed
PMID: 21122280.
o Riveira-Munoz E, He SM, Escaramís G, Stuart PE, Hüffmeier U, Lee C, Kirby B,
Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de Cid R, Munkhbat B, Zeeuwen
PL,Armour JA, Poon A, Mabuchi T, Ozawa A, Zawirska A, Burden AD, Barker JN,
Capon F,Traupe H, Sun LD, Cui Y, Yin XY, Chen G, Lim HW, Nair RP, Voorhees JJ,
Tejasvi T, Pujol R, Munkhtuvshin N, Fischer J, Kere J, Schalkwijk J, Bowcock A,
Kwok PY, Novelli G, Inoko H, Ryan AW, Trembath RC, Reis A, Zhang XJ, Elder JT,
Estivill X. Meta-Analysis Confirms the LCE3C_LCE3B Deletion as a Risk Factor for
Psoriasis in Several Ethnic Groups and Finds Interaction with HLA-Cw6. J Invest
Dermatol. 2010 Nov 25. [Epub ahead of print] PubMed PMID: 21107349.
o Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control
Consortium 2, Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH,Barton
A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas
JP, Cork MJ, Corvin A, Deloukas P, Dilthey A, Duncanson A, Edkins S, Estivill X,
Fitzgerald O, Freeman C, Giardina E, Gray E, Hofer A, Hüffmeier U, Hunt SE, Irvine
AD, Jankowski J, Kirby B, Langford C, Lascorz J, Leman J, Leslie S, Mallbris L,
Markus HS, Mathew CG, McLean WH, McManus R, Mössner R, Moutsianas L,
Naluai AT, Nestle FO, Novelli G, Onoufriadis A, Palmer CN, Perricone C,Pirinen M,
Plomin R, Potter SC, Pujol RM, Rautanen A, Riveira-Munoz E, Ryan AW, Salmhofer
W, Samuelsson L, Sawcer SJ, Schalkwijk J, Smith CH, Ståhle M, Su Z, Tazi-Ahnini R,
Traupe H, Viswanathan AC, Warren RB, Weger W, Wolk K, Wood N,Worthington J,
Young HS, Zeeuwen PL, Hayday A, Burden AD, Griffiths CE, Kere J, Reis A, McVean
G, Evans DM, Brown MA, Barker JN, Peltonen L, Donnelly P, Trembath RC. A
genome-wide association study identifies new psoriasis susceptibility loci and an
11
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interaction between HLA-C and ERAP1. Nat Genet. 2010 Nov;42(11):985-90.Epub
2010 Oct 17. PubMed PMID: 20953190.
Hüffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K,
Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Böhm B,
Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L,
Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton
A, Reis A. Common variants at TRAF3IP2 are associated with susceptibility to psoriasi
arthritis and psoriasis. Nat Genet. 2010 Nov;42(11):996-9. Epub 2010 Oct 17. PubMed
PMID: 20953186; PubMed Central PMCID: PMC2981079.
Corleto VD, Gambardella S, Gullotta F, D'Apice MR, Piciucchi M, Galli E,Lucidi V,
Novelli G, Delle Fave G. New PRSS1 and common CFTR mutations in a child with
acute recurrent pancreatitis, could be considered an "Hereditary" form of
pancreatitis.BMC Gastroenterol. 2010 Oct 15;10:119. PubMed PMID: 20950468;
PubMed Central PMCID: PMC2970583.
Guglielmi V, D'Adamo M, D'Apice MR, Bellia A, Lauro D, Federici M, Lauro R,
Novelli G, Sbraccia P. Elbow deformities in a patient with mandibuloacral dysplasia
type A. Am J Med Genet A. 2010 Nov;152A(11):2711-3. PubMed PMID: 20949529.
Giardina E, Stocchi L, Foti Cuzzola V, Zampatti S, Gambardella S, Patrizi MP,
Bramanti P, Pirazzoli A, Novelli G. A fluorescence-based sequence-specific primer
PCR for the screening of HLA-B(*)57:01. Electrophoresis. 2010 Oct;31(21):352530.PubMed PMID: 20925049.
Hennig BJ, Velez-Edwards DR, Schim van der Loeff MF, Bisseye C, Edwards
TL,Tacconelli A, Novelli G, Aaby P, Kaye S, Scott WK, Jaye A, Whittle HC, Williams
SM, Hill AV, Sirugo G. CD4 Intragenic SNPs Associate With HIV-2 Plasma Viral Load
and CD4 Count in a Community-Based Study From Guinea-Bissau, West Africa. J
Acquir Immune Defic Syndr. 2011 Jan 1;56(1):1-8. PubMed PMID: 20924289.
Amati F, Diano L, Campagnolo L, Vecchione L, Cipollone D, Bueno S, Prosperini G,
Desideri A, Siracusa G, Chillemi G, Marino B, Novelli G. Hif1α down-regulation is
associated with transposition of great arteries in mice treated with a
retinoic acid antagonist. BMC Genomics. 2010 Sep 16;11:497. PubMed PMID:
20846364; PubMed Central PMCID: PMC2996993.
Fazi B, Biancolella M, Mehdawy B, Corazzari M, Minella D, Blandini F, Moreno S,
Nardacci R, Nisticò R, Sepe S, Novelli G, Piacentini M, Di Sano F.Characterization of
gene expression induced by RTN-1C in human neuroblastoma cells and in mouse brain.
Neurobiol Dis. 2010 Dec;40(3):634-44. Epub 2010 Aug 12.PubMed PMID: 20708685.
Shastry S, Simha V, Godbole K, Sbraccia P, Melancon S, Yajnik CS, Novelli G, Kroiss
M, Garg A. A novel syndrome of mandibular hypoplasia, deafness, and progeroid
features associated with lipodystrophy, undescended testes, and male
hypogonadism. J Clin Endocrinol Metab. 2010 Oct;95(10):E192-7. Epub 2010 Jul 14.
PubMed PMID: 20631028.
Catalli C, Morgante A, Iraci R, Rinaldi F, Botta A, Novelli G. Validation of sensitivity
and specificity of tetraplet-primed PCR (TP-PCR) in the molecularcdiagnosis of
myotonic dystrophy type 2 (DM2). J Mol Diagn. 2010 Sep;12(5):601-6. Epub 2010 Jul
8. PubMed PMID: 20616365; PubMed Central PMCID: PMC2928423.
Capanni C, Cenni V, Haraguchi T, Squarzoni S, Schüchner S, Ogris E, Novelli G,
Maraldi NM, Lattanzi G. Lamin A precursor induces barrier-to-autointegration factor
nuclear localization. Cell Cycle. 2010 Jul 13;9(13). [Epub ahead of print] PubMed
PMID: 20581439.
o Cunningham VJ, D'Apice MR, Licata N, Novelli G, Cundy T. Skeletal phenotype of
mandibuloacral dysplasia associated with mutations in ZMPSTE24. Bone. 2010
Sep;47(3):591-7. Epub 2010 Jun 13. PubMed PMID: 20550970.
o Gambardella S, Rinaldi F, Lepore SM, Viola A, Loro E, Angelini C, Vergani L, Novelli
G, Botta A. Overexpression of microRNA-206 in the skeletal muscle from myotonic
dystrophy type 1 patients. J Transl Med. 2010 May 20;8:48. PubMed PMID: 20487562;
PubMed Central PMCID: PMC2880982.
o Pietrangeli I, Ottaviani E, Martone C, Gabriele L, Arcudi G, Potenza S, Spinella A,
Giardina E, Novelli G. Frequency assessment of 25 SNPs in five different populations.
Forensic Sci Int Genet. 2010 Oct;4(5):e131-3. Epub 2010 Feb 20. PubMed PMID:
20457086.
o Kang BY, Hu C, Ryu S, Khan JA, Biancolella M, Prayaga S, Seung KB, Novelli G,
Mehta P, Mehta JL. Genomics of cardiac remodeling in angiotensin II-treated wild-type
and LOX-1-deficient mice. Physiol Genomics. 2010 Jun;42(1):42-54. Epub 2010 Mar
23. PubMed PMID: 20332185.
de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN,Giardina
E, Stuart PE, Nair R, Helms C, Escaramís G, Ballana E, Martín-Ezquerra G, den Heijer
M, Kamsteeg M, Joosten I, Eichler EE, Lázaro C, Pujol RM, Armengol L, Abecasis G,
Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X.
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility
factor for psoriasis. Nat Genet. 2009 Feb;41(2):211-5. Epub 2009 Jan 25. PubMed
PMID: 19169253.
Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control
Consortium 2, Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH,Barton
A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas
JP, Cork MJ, Corvin A, Deloukas P, Dilthey A, Duncanson A, Edkins S, Estivill X,
Fitzgerald O, Freeman C, Giardina E, Gray E, Hofer A, Hüffmeier U, Hunt SE, Irvine
AD, Jankowski J, Kirby B, Langford C, Lascorz J, Leman J, Leslie S, Mallbris L,
Markus HS, Mathew CG, McLean WH, McManus R, Mössner R, Moutsianas L,
Naluai AT, Nestle FO, Novelli G, Onoufriadis A, Palmer CN, Perricone C,Pirinen M,
Plomin R, Potter SC, Pujol RM, Rautanen A, Riveira-Munoz E, Ryan AW, Salmhofer
W, Samuelsson L, Sawcer SJ, Schalkwijk J, Smith CH, Ståhle M, Su Z, Tazi-Ahnini R,
Traupe H, Viswanathan AC, Warren RB, Weger W, Wolk K, Wood N,Worthington J,
Young HS, Zeeuwen PL, Hayday A, Burden AD, Griffiths CE, Kere J, Reis A, McVean
G, Evans DM, Brown MA, Barker JN, Peltonen L, Donnelly P, Trembath RC. A
genome-wide association study identifies new psoriasis susceptibility loci and an
interaction between HLA-C and ERAP1. Nat Genet. 2010 Nov;42(11):985-90.Epub
2010 Oct 17. PubMed PMID: 20953190.
Hüffmeier U, Uebe S, Ekici AB, Bowes J, Giardina E, Korendowych E, Juneblad K,
Apel M, McManus R, Ho P, Bruce IN, Ryan AW, Behrens F, Lascorz J, Böhm B,
Traupe H, Lohmann J, Gieger C, Wichmann HE, Herold C, Steffens M, Klareskog L,
Wienker TF, Fitzgerald O, Alenius GM, McHugh NJ, Novelli G, Burkhardt H, Barton
A, Reis A. Common variants at TRAF3IP2 are associated with susceptibility to psoriasi
arthritis and psoriasis. Nat Genet. 2010 Nov;42(11):996-9. Epub 2010 Oct 17. PubMed
PMID: 20953186; PubMed Central PMCID: PMC2981079.
Shastry S, Simha V, Godbole K, Sbraccia P, Melancon S, Yajnik CS, Novelli G, Kroiss
M, Garg A. A novel syndrome of mandibular hypoplasia, deafness, and progeroid
features associated with lipodystrophy, undescended testes, and male hypogonadism. J
13
Clin Endocrinol Metab. 2010 Oct;95(10):E192-7. Epub 2010 Jul 14. PubMed PMID:
20631028.
o Capanni C, Cenni V, Haraguchi T, Squarzoni S, Schüchner S, Ogris E, Novelli G,
Maraldi NM, Lattanzi G. Lamin A precursor induces barrier-to-autointegration factor
nuclear localization. Cell Cycle. 2010 Jul 13;9(13). [Epub ahead of print] PubMed
PMID: 20581439
Invited papers
o Novelli G., Amati F., Dallapiccola B.:UFD1L AND CDC45L: Role of either, neither or
both in DiGeorge syndrome and related phenotypes? Trends Genet 15, 251-252 (1999).
o Botta A, Amati F, Novelli G.: Causes of the phenotype-genotype dissociation in
DiGeorge syndrome: clues from mouse models. Trends Genet. 2001 Oct;17(10):551-4.
o Novelli G, Margiotti K, Sangiuolo F, Reichardt JK.: Pharmacogenetics of human
androgens and prostatic diseases. Pharmacogenomics. 2001 Feb;2(1):65-72. Review.
Sangiuolo F, D'Apice MR, Bruscia E, Lucidi V, Novelli G.: Towards the pharmacogenomics of cystic
fibrosis. Pharmacogenomics. (2002) 3:75-87. Review.
o Novelli G, Gruenert DC: Genome medicine: gene therapy for the millennium.
Parmacogenomics. (2002);3(1):15-8.
o Novelli G. D’Apice MR: The strange case of the ‘lumper’ lamin A/C gene and human
premature ageing. (2003) Trends in Molecular Medicine, Sep;9(9):370-5.
o Novelli G., Borgiani P., Giardina E., Mango R., Contino G., Mehta JL: Role of genetics
in prevention of coronary atherosclerosis. Curr. Op. Cardiol. (2003) 2003
Sep;18(5):368-371
o Novelli G. The genome after 50 years after Watson and Crick Genomes 2. Eur J Hum
Genet. 2004 Apr;12(4):338.
o Novelli G, Margiotti K, Chiocca AM, Spera E, Micali F, Reichardt JK.
Pharmacogenetics
of
human
androgens
and
prostate
cancer--an
update.Pharmacogenomics. 2004 Apr;5(3):283-94.
o Sangiuolo F, D'Apice MR, Gambardella S, Di Daniele N, Novelli G. Toward the
pharmacogenomics of cystic fibrosis--an update. Pharmacogenomics. 2004
Oct;5(7):861-78. Review.
o Sangiuolo F, Novelli G.: Sequence-specific modification of mouse genomic DNA
mediated by gene targeting techniques. Cytogenet Genome Res. 2004;105(2-4):435-41.
o Novelli G, Contino G.: Memories from our genes. Eur J Hum Genet. 2008 Feb 20;
[Epub ahead of print] No abstract available. PMID: 18285830 [PubMed - as supplied by
publisher]
o Sangiuolo F, Scaldaferri ML, Filareto A, Spitalieri P, Guerra L, Favia M, Caroppo R,
Mango R, Bruscia E, Gruenert DC, Casavola V, De Felici M, Novelli G. Cftr gene
targeting in mouse embryonic stem cells mediated by Small Fragment Homologous
Replacement (SFHR). Front Biosci. 2008 Jan 1;13:2989-99. Review PMID: 17981772
[PubMed - indexed for MEDLINE].
o Novelli, Giuseppe, and Biancolella, Michela(Jun 2011) Pharmacogenetics. In:
eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi:
10.1002/9780470015902.a0002012.pub2].
o Sirugo G, Hennig BJ, Adeyemo AA, Matimba A, Newport MJ, Ibrahim ME, Ryckman
KK, Tacconelli A, Mariani-Costantini R, Novelli G, Soodyall H, Rotimi CN, Ramesar
RS, Tishkoff SA, Williams SM. Genetic studies of African populations: an overview on
14
disease susceptibility and response to vaccines and therapeutics. Hum Genet. 2008
Jul;123(6):557-98. Epub 2008 May 30. Review.
o Novelli G, Predazzi IM. The genomic era and the new frontiers of medicine. 2010
Jan;18(1):133-4. PMID: 20010609 [PubMed – in process];
o Novelli G. Personalized genomic medicine. Intern Emerg Med. 2010 Oct;5 Suppl 1:S8190. PubMed PMID: 20865479.
o Cazzola M, Novelli G. Biomarkers in COPD. Pulm Pharmacol Ther. 2010
Dec;23(6):493-500. Epub 2010 May 13. PubMed PMID: 20471487.
15