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Giuseppe Novelli

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Eugenio Pompeo; Paola Rogliani; B Cristino; Giuseppe Novelli; Orazio Schillaci; Cesare Saltini
Awake thoracoscopic biopsy of interstitial lung disease.
Cinzia Ciccacci; Giovanna Condino; Davide Di Fusco; Emiliano Giardina; Tiziana Lepre; Giuseppe Novelli; Sara Onali; Francesco Pallone; Micaela Ranieri; Livia Biancone; Paola Borgiani
TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in Inflammatory Bowel Disease.
Giuseppe Novelli; S Novelli; Luca Poli; Francesco Pugliese; Mosè Rossi; Franco Ruberto; Giancarlo Ferretti; Gianluca Mennini; Vincenzo Morabito; Pasquale Berloco
Safety of polymyxin-B-based hemoperfusion in kidney and liver transplant recipients.

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2013: Eugenio Pompeo; Paola Rogliani; B Cristino; Giuseppe Novelli; Orazio Schillaci; Cesare Saltini
Awake thoracoscopic biopsy of interstitial lung disease.
The Annals of thoracic surgery 2013;95(2):445-52.
2013: Cinzia Ciccacci; Giovanna Condino; Davide Di Fusco; Emiliano Giardina; Tiziana Lepre; Giuseppe Novelli; Sara Onali; Francesco Pallone; Micaela Ranieri; Livia Biancone; Paola Borgiani
TRAF3IP2 gene is associated with cutaneous extraintestinal manifestations in Inflammatory Bowel Disease.
Journal of Crohn's & colitis 2013;7(1):44-52.
2012: Giuseppe Novelli; S Novelli; Luca Poli; Francesco Pugliese; Mosè Rossi; Franco Ruberto; Giancarlo Ferretti; Gianluca Mennini; Vincenzo Morabito; Pasquale Berloco
Safety of polymyxin-B-based hemoperfusion in kidney and liver transplant recipients.
Transplantation proceedings 2012;44(7):1966-72.
2012: Giuseppe Novelli; Renzo Pretagostini; Francesco Pugliese; Mosè Rossi; Franco Ruberto; Giancarlo Ferretti; N Guglielmo; Vincenzo Morabito; Pasquale Berloco
Management of hepatitis C virus infection in liver transplantation with adacolumn apheresis.
Transplantation proceedings 2012;44(7):1946-52.
2012: Giuseppe Novelli; S Novelli; Francesco Pugliese; Mosè Rossi; Quirino Lai; Giovanni Battista Levi Sandri; F Melandro; Vincenzo Morabito; Pasquale Berloco
Glasgow coma score and tumor necrosis factor α as predictive criteria for initial poor graft function.
Transplantation proceedings 2012;44(7):1820-5.
2012: Gaetano Vattemi; Paola Tonin; Laura Bertolasi; Claudio Catalli; Alessandra Ferlini; Francesca Gualandi; Valeria Guglielmi; Matteo Marini; Marcella Neri; Giuseppe Novelli; Giuliano Tomelleri
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
The neurologist 2012;18(5):306-9.
2012: Giuseppe Novelli; Maria Rosaria D'Apice
Protein farnesylation and disease.
Journal of inherited metabolic disease 2012;35(5):917-26.
2012: Stefania Zampatti; Emanuele Agolini; Marco Castori; Carlo Dionisi Vici; Paola Ferrari; Bjoern Fischer; Livia Garavelli; Johannes Häberle; Uwe Kornak; Eva Morava; Giuseppe Novelli; Anita Wischmeijer; Francesco Brancati
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
American journal of medical genetics. Part A 2012;158A(4):927-31.
2012: Paola Spitalieri; Valeria Casavola; Emiliano Giardina; Lorenzo Guerra; Giuseppe Novelli; A Orlandi; M C Quitadamo; C Saltini; Federica Sangiuolo
Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells.
The European respiratory journal 2012;39(2):446-57.
2012: Francesca Amati; Hironori Ando; Alberico Luigi Catapano; Lucia Cutuli; Laura Diano; Yoshikazu Koyama; Giuseppe D Norata; Francesco Romeo; Lucia Vecchione; Giuseppe Novelli
LOX-1 Inhibition in ApoE KO Mice Using a Schizophyllan-based Antisense Oligonucleotide Therapy.
Molecular therapy. Nucleic acids 2012;1():e58.
2012: Michela Murdocca; Antonio Musarò; Giuseppe Novelli; Maria Chiara Quitadamo; Luciano Saieva; Elvira De Leonibus; Gabriella Dobrowolny; Antonio Filareto; Andrea Luchetti; Arianna Malgieri; Federica Sangiuolo
IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy.
Molecular medicine (Cambridge, Mass.) 2012;18():1076-85.
2012: Andrea Luchetti; Giampiero Ferraguti; Antonio Filareto; Marco Lucarelli; Giuseppe Novelli; Massimo Sanchez; Federica Sangiuolo; Arianna Malgieri
Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system.
PloS one 2012;7(2):e30851.
2012: Irene Marta Predazzi; Francesco Romeo; Simona Tramontana; Lucia Vecchione; Lucia Cutuli; Katia Garlaschelli; Liliana Grigore; Giuseppe D Norata; Giuseppe Novelli; Angela Pirillo; Francesca Amati; Alberico L Catapano
Association between OLR1 K167N SNP and intima media thickness of the common carotid artery in the general population.
PloS one 2012;7(2):e31086.
2012: Lucia Vecchione; Luisa Campagnolo; Laura Diano; Fabrizio Ferrè; Jawahar L Mehta; Giuseppe Novelli; Lucia Rocchi; Francesca Amati
Functional characterization and expression analysis of novel alternative splicing isoforms of Olr1 gene during mouse embryogenesis.
Gene 2012;491(1):5-12.
2012: F Rinaldi; C Terracciano; L Vergani; Corrado Angelini; S Di Girolamo; G Gourdon; E Loro; Roberto Massa; Giuseppe Novelli; Valerio Pisani; A Botta
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues.
Neurobiology of disease 2012;45(1):264-71.
2011: Emiliano Giardina; Ulrike Hüffmeier; Eleanor Korendowych; Tiziana Lepre; Neil J McHugh; Giuseppe Novelli; Jaya Ravindran; Frank Behrens; Harald Burkhardt; André Reis
Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus.
Arthritis and rheumatism 2011;63(12):3801-6.
2011: Valerio Pisani; C Terracciano; A Tirabasso; Giorgio Bernardi; A Botta; Roberto Massa; S Mazzone; Giuseppe Novelli; S Di Girolamo
Early subclinical cochlear dysfunction in myotonic dystrophy type 1.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2011;18(12):1412-6.
2011: Tiziana Lepre; Filippo Missiroli; Federico Ricci; Fabiana Taglia; Stefania Zampatti; Raffaella Cascella; Andrea Cusumano; Cecilia De Felici; Chiara Maria Eandi; Emiliano Giardina; Giuseppe Novelli
Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration.
American journal of ophthalmology 2011;152(2):325-6; author reply 326.
2011: Cinzia Ciccacci; N Paolillo; D Di Fusco; Giuseppe Novelli; P Borgiani
EPHX1 polymorphisms are not associated with warfarin response in an Italian population.
Clinical pharmacology and therapeutics 2011;89(6):791; author reply 792.
2011: Cinzia Ciccacci; Mattia Falconi; Nicoletta Paolillo; Francesco Oteri; Vittorio Forte; Giuseppe Novelli; Alessandro Desideri; Paola Borgiani
Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient.
Pharmacogenetics and genomics 2011;21(6):344-6.
2011: M G Giganti; Andrea M Isidori; D Minella; Giuseppe Novelli; B Testa; R Zenobi; Michela Biancolella; M Caprio; A Fabbri
A pilot study on the transcriptional response of androgen- and insulin-related genes in peripheral blood mononuclear cells induced by testosterone administration in hypogonadal men.
Journal of biological regulators and homeostatic agents 2011;25(2):291-4.
2011: Raffaella Cascella; Valeria Foti Cuzzola; Tiziana Lepre; Elena Galli; Viviana Moschese; Loredana Chini; Cinzia Mazzanti; Paola Fortugno; Giuseppe Novelli; Emiliano Giardina
Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association.
The Journal of investigative dermatology 2011;131(4):982-4.
2011: Emiliano Giardina; Aldo Spinella; Giuseppe Novelli
Past, present and future of forensic DNA typing.
Nanomedicine (London, England) 2011;6(2):257-70.
2010: Giuseppe Novelli; Irene M Predazzi; Ruggiero Mango; Francesco Romeo; Jawahar L Mehta
Role of genomics in cardiovascular medicine.
World journal of cardiology 2010;2(12):428-36.
2010: Barbara Fazi; Michela Biancolella; Bisan Mehdawy; Marco Corazzari; Daniela Minella; Fabio Blandini; Sandra Moreno; Roberta Nardacci; Robert Nisticò; Sara Sepe; Giuseppe Novelli; Mauro Piacentini; Federica Di Sano
Characterization of gene expression induced by RTN-1C in human neuroblastoma cells and in mouse brain.
Neurobiology of disease 2010;40(3):634-44.
2010: Mario Cazzola; Giuseppe Novelli
Biomarkers in COPD.
Pulmonary pharmacology & therapeutics 2010;23(6):493-500.
2010: Valeria Guglielmi; Monica D'Adamo; Maria Rosaria D'Apice; Alfonso Bellia; Davide Lauro; Massimo Federici; Renato Lauro; Giuseppe Novelli; Paolo Sbraccia
Elbow deformities in a patient with mandibuloacral dysplasia type A.
American journal of medical genetics. Part A 2010;152A(11):2711-3.
2010: Steven Nisticò; N Paolillo; D Minella; Silvia Piccirilli; V Rispoli; Emiliano Giardina; Michela Biancolella; Sergio Chimenti; Giuseppe Novelli; Giuseppe Nisticò
Effects of TNF-α and IL-1 β on the activation of genes related to inflammatory, immune responses and cell death in immortalized human HaCat keratinocytes.
International journal of immunopathology and pharmacology 2010;23(4):1057-72.
2010: D Minella; Michela Biancolella; B Testa; G Prosperini; R Zenobi; Giuseppe Novelli; M G Giganti
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.
Journal of biological regulators and homeostatic agents 2010;24(4):413-23.
2010: Emiliano Giardina; Laura Stocchi; Valeria Foti Cuzzola; Stefania Zampatti; Stefano Gambardella; Maria Patrizia Patrizi; Placido Bramanti; Antonella Pirazzoli; Giuseppe Novelli
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01.
Electrophoresis 2010;31(21):3525-30.
2010: Ilenia Pietrangeli; Enrica Ottaviani; Claudia Martone; Luciano Gabriele; G Arcudi; Saverio Potenza; Aldo Spinella; Emiliano Giardina; Giuseppe Novelli
Frequency assessment of 25 SNPs in five different populations.
Forensic science international. Genetics 2010;4(5):e131-3.
2010: Claudio Catalli; Alessandra Morgante; Raniero Iraci; Fabrizio Rinaldi; Annalisa Botta; Giuseppe Novelli
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).
The Journal of molecular diagnostics : JMD 2010;12(5):601-6.
2010: E Loro; F Rinaldi; A Malena; E Masiero; Giuseppe Novelli; Corrado Angelini; V Romeo; Marco Sandri; A Botta; Lodovica Vergani
Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells.
Cell death and differentiation 2010;17(8):1315-24.
2010: Vincenzo Romeo; E Pegoraro; C Ferrati; F Squarzanti; Gianni Soraru; A Palmieri; P Zucchetta; L Antunovic; E Bonifazi; Giuseppe Novelli; Carlo Pietro Trevisan; Mario Ermani; Renzo Manara; Corrado Angelini
Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2.
Journal of neurology 2010;257(8):1246-55.
2010: Bum-Yong Kang; Changping Hu; Sunhyo Ryu; Junaid A Khan; Michela Biancolella; Sastry Prayaga; Ki-Bae Seung; Giuseppe Novelli; Paulette Mehta; Jawahar L Mehta
Genomics of cardiac remodeling in angiotensin II-treated wild-type and LOX-1-deficient mice.
Physiological genomics 2010;42(1):42-54.
2010: Roberto Massa; M B Panico; caldarola sara; F R Fusco; Patrizia Sabatelli; C Terracciano; Annalisa Botta; Giuseppe Novelli; Giorgio Bernardi; Fabrizio Loreni
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.
Neuropathology and applied neurobiology 2010;36(4):275-84.
2010: Quirino Lai; Antonio Molinaro; Gianluca Mennini; Francesco Nudo; Vincenzo Morabito; Stefano Ginanni Corradini; Giuseppe Novelli; Pasquale Berloco; Massimo Rossi
Preoperative donor scores and postoperative early measures of graft function: relevance to the outcome of liver transplantation.
Transplantation proceedings 2010;42(4):1209-11.
2010: Giuseppe Novelli; Giancarlo Ferretti; Luca Poli; Renzo Pretagostini; Franco Ruberto; SM Perrella; S Levi; Vincenzo Morabito; Giovanni Battista Levi Sandri; Pasquale Berloco
Clinical results of treatment of postsurgical endotoxin-mediated sepsis with polymyxin-B direct hemoperfusion.
Transplantation proceedings 2010;42(4):1021-4.
2010: Irene M Predazzi; Cristina Martínez-Labarga; Lucia Vecchione; Ruggiero Mango; Cinzia Ciccacci; Francesca Amati; Claudio Ottoni; Michael H Crawford; Olga Rickards; Francesco Romeo; Giuseppe Novelli
Population differences in allele frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk events.
Annals of human biology 2010;37(2):136-48.
2010: Vito D Corleto; Stefano Gambardella; Francesca Gullotta; Maria R D'Apice; Matteo Piciucchi; Elena Galli; Vincenzina Lucidi; Giuseppe Novelli; Gianfranco Delle Fave
New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
BMC gastroenterology 2010;10():119.
2010: Francesca Amati; Laura Diano; Luisa Campagnolo; Lucia Vecchione; daria cipollone; Susana Bueno; Gianluca Prosperini; Alessandro Desideri; Gregorio Siracusa; Giovanni Chillemi; Bruno Marino; Giuseppe Novelli
Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist.
BMC genomics 2010;11():497.
2010: Stefano Gambardella; Fabrizio Rinaldi; Saverio M Lepore; Antonella Viola; Emanuele Loro; Corrado Angelini; Lodovica Vergani; Giuseppe Novelli; Annalisa Botta
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.
Journal of translational medicine 2010;8():48.
2010: Cinzia Ciccacci; Paola Borgiani; Susanna Ceffa; Elisabetta Sirianni; Maria Cristina 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 2010;11(1):23-31.
2010: Giuseppe Novelli; P Borgiani; Cinzia Ciccacci; Nicola Di Daniele; G Sirugo; M Papaluca Amati
Pharmacogenomics: role in medicines approval and clinical use.
Public health genomics 2010;13(5):284-91.
2009: Paola Spitalieri; Giancarlo Cortese; Adalgisa Pietropolli; Antonio Filareto; Susanna Dolci; Francesca Gioia Klinger; Emiliano Giardina; Silvia Di Cesare; Laura Bernardini; Davide Lauro; M Lucia Scaldaferri; H Lucia Scaldaferri; Gennaro Citro; Giuseppe Novelli; Massimo De Felici; Federica Sangiuolo
Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi.
Cloning and stem cells 2009;11(4):535-56.
2009: Rossella Menghini; Viviana Casagrande; Marina Cardellini; E Martelli; Alessandro Terrinoni; Francesca Amati; Mariuca Vasa-Nicotera; Arnaldo Ippoliti; Giuseppe Novelli; Gerry Melino; Renato Lauro; Massimo Federici
MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1.
Circulation 2009;120(15):1524-32.
2009: Federico Ricci; Stefania Zampatti; Francesca D'Abbruzzi; Filippo Missiroli; Claudia Martone; Tiziana Lepre; Ilenia Pietrangeli; Cecilia Sinibaldi; Cristina Peconi; Giuseppe Novelli; Emiliano Giardina
Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population.
Archives of ophthalmology 2009;127(10):1368-72.
2009: A Bellia; Emiliano Giardina; D Lauro; Manfredi Tesauro; Gaetana Di Fede; G Cusumano; Massimo Federici; Giovam Battista Rini; Giuseppe Novelli; Renato Lauro; Paolo Sbraccia
"The Linosa Study": epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2009;19(7):455-61.
2009: Ilenia Pietrangeli; Vincenzo Caruso; Liana Veneziano; Aldo Spinella; G Arcudi; Emiliano Giardina; Giuseppe Novelli
Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims.
Journal of forensic sciences 2009;54(4):905-8.
2009: Emiliano Giardina; Cristina Peconi; Raffaella Cascella; Cecilia Sinibaldi; Valeria Foti Cuzzola; Anna Maria Nardone; Placido Bramanti; Giuseppe Novelli
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.
Electrophoresis 2009;30(11):2008-11.
2009: Quirino Lai; Manuela Merli; Stefano Ginanni-Corradini; Gianluca Mennini; Federica Gentili; A Molinaro; Vincenzo Morabito; Giancarlo Ferretti; Francesco Pugliese; Giuseppe Novelli; Pasquale Berloco; Massimo Rossi
Predictive factors of recurrence of hepatocellular carcinoma after liver transplantation: a multivariate analysis.
Transplantation proceedings 2009;41(4):1306-9.
2009: Rosanna Cardani; Simona Baldassa; Annalisa Botta; Fabrizio Rinaldi; Giuseppe Novelli; Enzo Mancinelli; Giovanni Meola
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.
Neuromuscular disorders : NMD 2009;19(5):335-43.
2009: Diana Postorivo; Michela Biancolella; Alvaro Mesoraca; Anna Maria Nardone; Giuseppe Novelli
Now you can! Reality & Future Applications of array CGH in prenatal diagnosis.
Journal of prenatal medicine 2009;3(2):23-4.
2009: daria cipollone; Rita Carsetti; Angela Tagliani; Maria Manuela Rosado; Paola Borgiani; Giuseppe Novelli; Giulia d'Amati; Lorenzo Fumagalli; Bruno Marino; Rita Businaro
Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice.
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2009;18(2):100-9.
2009: Paola Borgiani; Cinzia Ciccacci; Vittorio Forte; Elisabetta Sirianni; Lucia Novelli; Placido Bramanti; Giuseppe Novelli
CYP4F2 genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the Italian population.
Pharmacogenomics 2009;10(2):261-6.
2009: Leila Baghernajad-Salehi; Maria Rosaria D'Apice; Anila Babameto-Laku; Michela Biancolella; Anila Mitre; Silvia Russo; Nicola Di Daniele; Federica Sangiuolo; Vahe Mokini; Giuseppe Novelli
A pilot beta-thalassaemia screening program in the Albanian population for a health planning program.
Acta haematologica 2009;121(4):234-8.
2009: Emiliano Giardina; Ilenia Pietrangeli; Claudia Martone; Stefania Zampatti; Patrizio Marsala; Luciano Gabriele; Omero Ricci; Gianluca Solla; Paola Asili; G Arcudi; Aldo Spinella; Giuseppe Novelli
Whole genome amplification and real-time PCR in forensic casework.
BMC genomics 2009;10():159.
2009: Silvia Biocca; Mattia Falconi; Ilaria Filesi; Francesco Baldini; Lucia Vecchione; Ruggiero Mango; Francesco Romeo; Giorgio Federici; Alessandro Desideri; Giuseppe Novelli
Functional analysis and molecular dynamics simulation of LOX-1 K167N polymorphism reveal alteration of receptor activity.
PloS one 2009;4(2):e4648.
2008: F Rinaldi; Annalisa Botta; Laura Vallo; Gianmarco Contino; A Morgante; Raniero Iraci; C Catalli; G Silvestri; V M Ventriglia; L Politano; Giuseppe Novelli
Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008;27():82-9.
2008: Annalisa Botta; F Rinaldi; C Catalli; L Vergani; Emanuela Bonifazi; V Romeo; E Loro; A Viola; Corrado Angelini; Giuseppe Novelli
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.
Journal of medical genetics 2008;45(10):639-46.
2008: F Lombardi; Giovanni Francesco Fasciglione; Maria Rosaria D'Apice; A Vielle; Monica D'Adamo; Paolo Sbraccia; S Marini; Paola Borgiani; Massimo Coletta; Giuseppe Novelli
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.
Clinical genetics 2008;74(4):374-83.
2008: Carlo Corradini; Francesca Gullotta; Silvia Ciacci; Giampiero Palmieri; Leila Baghernajad Salehi; Eugenio De Corso; Giuseppe Novelli; stefano gambardella
Hyperproliferation in nasal polyposis tissues is not associated with somatic genomic instability.
Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 2008;37(4):510-4.
2008: Giuseppe Novelli; Marisa Papaluca Amati; Paola Borgiani; Cinzia Ciccacci; Eric Abadie
Genetic tests and genomic biomarkers: regulation, qualification and validation.
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 2008;5(2):149-54.
2008: Emiliano Giardina; Ilenia Pietrangeli; Cristina Martínez-Labarga; Claudia Martone; Flavio de Angelis; Aldo Spinella; Gianfranco De Stefano; Olga Rickards; Giuseppe Novelli
Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations.
Current genomics 2008;9(2):110-4.
2008: Silvia Biocca; Ilaria Filesi; Ruggiero Mango; Luana Maggiore; Francesco Baldini; Lucia Vecchione; Antonella Viola; Gennaro Citro; Giorgio Federici; Francesco Romeo; Giuseppe Novelli
The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization.
Journal of molecular and cellular cardiology 2008;44(3):561-70.
2008: Maria Rosaria D'Apice; Giuseppe Novelli; Federica Sangiuolo
Diagnostic CFTR mutation analysis.
Expert opinion on medical diagnostics 2008;2(2):191-205.
2008: Emiliano Giardina; Nicoletta Paolillo; Cecilia Sinibaldi; Giuseppe Novelli
R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients.
Dermatology (Basel, Switzerland) 2008;216(1):83-4.
2008: Federica Sangiuolo; lucia scaldaferri; Antonio Filareto; Paola Spitalieri; Lorenzo Guerra; Maria Favia; Rosa Caroppo; Ruggiero Mango; Emanuela Bruscia; Dieter C Gruenert; Valeria Casavola; Massimo De Felici; Giuseppe Novelli
Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR).
Frontiers in bioscience : a journal and virtual library 2008;13():2989-99.
2007: Paola Borgiani; Cinzia Ciccacci; Vittorio Forte; Silvia Romano; Giorgio Federici; Giuseppe Novelli
Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians.
Pharmacogenomics 2007;8(11):1545-50.
2007: Francesca Lombardi; Francesca Gullotta; Marta Columbaro; Antonio Filareto; Monica D'Adamo; Anne Vielle; Valeria Guglielmi; Anna Maria Nardone; Valeria Azzolini; Enrico Grosso; Giovanna Lattanzi; Maria Rosaria D'Apice; Salvatore Masala; Nadir M Maraldi; Paolo Sbraccia; Giuseppe Novelli
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
The Journal of clinical endocrinology and metabolism 2007;92(11):4467-71.
2007: Franco Ruberto; Francesco Pugliese; A D'alio; S Martelli; K Bruno; V Marcellino; D Summonti; P Celli; SM Perrella; A Cappannoli; C Pietropaoli; A Tosi; B Diana; Giuseppe Novelli; Massimo Rossi; Stefano Ginanni-Corradini; Giancarlo Ferretti; Pasquale Berloco; Paolo Pietropaoli
Clinical effects of direct hemoperfusion using a polymyxin-B immobilized column in solid organ transplanted patients with signs of severe sepsis and septic shock. A pilot study.
The International journal of artificial organs 2007;30(10):915-22.
2007: Maria Domenica Guarino; Perricone Carlo; Sabina Guarino; stefano gambardella; Maria Rosaria D'Apice; Luigi Fontana; Giuseppe Novelli; Roberto Perricone
Denaturing HPLC in laboratory diagnosis of hereditary angioedema.
The Journal of allergy and clinical immunology 2007;120(4):962-5.
2007: Ettore Capoluongo; Giovanni Vento; Sandro Rocchetti; Emiliano Giardina; Paola Concolino; Cecilia Sinibaldi; Concetta Santonocito; Valentina Vendettuoli; Milena Tana; Chiara Tirone; Cecilia Zuppi; Costantino Romagnoli; Giuseppe Novelli; Bruno Giardina; Franco Ameglio
Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study.
Intensive care medicine 2007;33(10):1787-94.
2007: Michela Biancolella; Alessandra Valentini; Daniela Minella; Lucia Vecchione; Franca D'Amico; Giovanni Chillemi; Paolo Gravina; Susana Bueno; Gianluca Prosperini; Alessandro Desideri; Giorgio Federici; Sergio Bernardini; Giuseppe Novelli
Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines.
Investigational new drugs 2007;25(5):491-7.
2007: Franco Ruberto; Francesco Pugliese; A D'alio; S Martelli; K Bruno; V Marcellino; SM Perrella; A Cappannoli; V Mazzarino; A Tosi; Giuseppe Novelli; Massimo Rossi; Stefano Ginanni-Corradini; Giancarlo Ferretti; Pasquale Berloco; Paolo Pietropaoli
Clinical effects of use polymyxin B fixed on fibers in liver transplant patients with severe sepsis or septic shock.
Transplantation proceedings 2007;39(6):1953-5.
2007: Massimo Rossi; Manuela Merli; Quirino Lai; Federica Gentili; Gianluca Mennini; Alessandro Bussotti; Francesco Pugliese; Fatima Della Pietra; Luca Poli; Giuseppe Novelli; M Giusto; Stefano Ginanni-Corradini; Massimo Iappelli; Andrea Onetti Muda; Ugo Di Tondo; Francesco Gossetti; Adolfo Francesco Attili; Pasquale Berloco
Outcome after liver transplantation in patients with cirrhosis and hepatocellular carcinoma.
Transplantation proceedings 2007;39(6):1895-7.
2007: Francesco Pugliese; Franco Ruberto; K Bruno; S Martelli; SM Perrella; A Cappannoli; A D'alio; T Messina; D Summonti; C Pietropaoli; Massimo Rossi; Giuseppe Novelli; Pasquale Berloco; Paolo Pietropaoli
Fenoldopam and gastric tonometry during orthotopic liver transplantation.
Transplantation proceedings 2007;39(6):1886-8.
2007: Giuseppe Novelli; Massimo Rossi; Francesco Pugliese; I Poli; E Ruberto; S Martelli; Francesco Nudo; Vincenzo Morabito; Gianluca Mennini; Pasquale Berloco
Molecular adsorbents recirculating system treatment in acute-on-chronic hepatitis patients on the transplant waiting list improves model for end-stage liver disease scores.
Transplantation proceedings 2007;39(6):1864-7.
2007: Giuseppe Novelli; Massimo Rossi; Luca Poli; Vincenzo Morabito; Stefano Ferretti; Alessandro Bussotti; Francesco Nudo; Gianluca Mennini; Fabio Antonellis; Pasquale Berloco
Is legalizing the organ market possible?
Transplantation proceedings 2007;39(6):1743-5.
2007: Lucia Vecchione; Elisa Gargiul; Paola Borgiani; Irene Predazzi; Ruggiero Mango; Francesco Romeo; Mauro Magnani; Giuseppe Novelli
Genotyping OLR1 gene: a genomic biomarker for cardiovascular diseases.
Recent patents on cardiovascular drug discovery 2007;2(2):147-51.
2007: Franca D'Amico; Michela Biancolella; Katia Margiotti; Juergen K V Reichardt; Giuseppe Novelli
Genomic biomarkers, androgen pathway and prostate cancer.
Pharmacogenomics 2007;8(6):645-61.
2007: Alessandra Valentini; Michela Biancolella; Francesca Amati; Paolo Gravina; Roberto Miano; Giovanni Chillemi; Alessio Farcomeni; Susana Bueno; Giuseppe Vespasiani; Alessandro Desideri; Giorgio Federici; Giuseppe Novelli; Sergio Bernardini
Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line.
Drug metabolism and disposition: the biological fate of chemicals 2007;35(6):968-72.
2007: Giuseppe Novelli; Ruggiero Mango; Lucia Vecchione; E Mariotti; Paola Borgiani; Jawahar L Mehta; Francesco Romeo
[New insights in atherosclerosis research: LOX-1, leading actor of cardiovascular diseases].
La Clinica terapeutica 2007;158(3):239-48.
2007: Francesca Amati; Michela Biancolella; Alessio Farcomeni; Stefania Giallonardi; Susana Bueno; Daniela Minella; Lucia Vecchione; Giovanni Chillemi; Alessandro Desideri; Giuseppe Novelli
Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development.
Gene 2007;391(1-2):91-102.
2007: Giuseppe Novelli; Paola Borgiani; Ruggiero Mango; Renato Lauro; Francesco Romeo
Further evidence that polymorphisms of the OLR1 gene are associated with susceptibility to coronary artery disease and myocardial infarction.
Nutrition, metabolism, and cardiovascular diseases : NMCD 2007;17(3):e7-8; author reply e9-10.
2007: Francesca Gullotta; Paolo Molinaro; Marianovella Narcisi; Anna Maria Nardone; Michela Biancolella; Isabella Colapietro; Elena Costa; Cristiana Di Rosa; Adalgisa Pietropolli; Giuseppe Novelli
Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization.
Journal of prenatal medicine 2007;1(1):16-22.
2007: Emiliano Giardina; Ilenia Pietrangeli; Claudia Martone; Paola Asili; Irene Predazzi; Patrizio Marsala; Luciano Gabriele; Claudio Pipolo; Omero Ricci; Gianluca Solla; Luca Sineo; Aldo Spinella; Giuseppe Novelli
In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
BMC genomics 2007;8():457.
2007: Mattia Falconi; Silvia Biocca; Giuseppe Novelli; Alessandro Desideri
Molecular dynamics simulation of human LOX-1 provides an explanation for the lack of OxLDL binding to the Trp150Ala mutant.
BMC structural biology 2007;7():73.
2007: Annalisa Botta; Laura Vallo; Fabrizio Rinaldi; Emanuela Bonifazi; Francesca Amati; Michela Biancolella; stefano gambardella; Enzo Mancinelli; Corrado Angelini; Giovanni Meola; Giuseppe Novelli
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2.
Gene expression 2007;13(6):339-51.
2007: Katia Margiotti; Latif A Wafa; Helen Cheng; Giuseppe Novelli; Colleen C Nelson; Paul S Rennie
Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells.
Molecular cancer 2007;6():38.
2007: Leila Baghernajad Salehi; Emanuela Bonifazi; Enrico Di Stasio; Massimo Gennarelli; Annalisa Botta; Laura Vallo; Raniero Iraci; Roberto Massa; Giovanni Antonini; Corrado Angelini; Giuseppe Novelli
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.
Genetic testing 2007;11(1):84-90.
2007: Emiliano Giardina; Cecilia Sinibaldi; Giuseppe Novelli
Mapping the future of common diseases: lessons from psoriasis.
Frontiers in bioscience : a journal and virtual library 2007;12():1563-73.
2006: stefano gambardella; Michela Biancolella; Maria Rosaria D'Apice; Francesca Amati; Federica Sangiuolo; Alessio Farcomeni; Giovanni Chillemi; Susana Bueno; Alessandro Desideri; Giuseppe Novelli
Gene expression profile study in CFTR mutated bronchial cell lines.
Clinical and experimental medicine 2006;6(4):157-65.
2006: Barbara Bucci; Silvia Misiti; Annapaola Cannizzaro; Rodolfo Marchese; Giorgio H Raza; Roberto Miceli; Antonio Stigliano; Donatella Amendola; Olimpia Monti; Michela Biancolella; Francesca Amati; Giuseppe Novelli; Aldo Vecchione; Ercole Brunetti; Ugo De Paula
Fractionated ionizing radiation exposure induces apoptosis through caspase-3 activation and reactive oxygen species generation.
Anticancer research 2006;26(6B):4549-57.
2006: L Baghernajad Salehi; Oronzo Scarciolla; G Frajese Vanni; A M Nardone; Gaetano Frajese; Giuseppe Novelli; Liborio Stuppia
Identification of a novel mutation in the SRY gene in a 46, XY female patient.
European journal of medical genetics 2006;49(6):494-8.
2006: Giuseppe Novelli; Paola Borgiani; Ruggiero Mango; Francesco Romeo; Jawahar L Mehta
OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample.
European journal of human genetics : EJHG 2006;14(8):894-5; author reply 895.
2006: daria cipollone; Francesca Amati; Rita Carsetti; Silvia Placidi; Michela Biancolella; Giulia d'Amati; Giuseppe Novelli; Gregorio Siracusa; Bruno Marino
A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice.
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2006;15(4):194-202.
2006: S Guarino; Perricone Carlo; M D Guarino; Emiliano Giardina; stefano gambardella; M Rosaria D'Apice; C Bulli; Roberto Perricone; Giuseppe Novelli
Gonadal mosaicism in hereditary angioedema.
Clinical genetics 2006;70(1):83-5.
2006: Annalisa Botta; Emanuela Bonifazi; Laura Vallo; Massimo Gennarelli; C Garrè; Leila Baghernajad Salehi; Raniero Iraci; Valeria Sansone; Giovanni Meola; Giuseppe Novelli
Italian guidelines for molecular analysis in myotonic dystrophies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2006;25(1):23-33.
2006: Giuseppe Novelli; Massimo Rossi; Luca Poli; R Predagostini; Massimo Iappelli; Vincenzo Morabito; Quirino Lai; Luigi Novelli; Gianluca Mennini; Stefano Ginanni Corradini; Pasquale Berloco
Intractable pruritus in patients with hepatitis C virus.
Transplantation proceedings 2006;38(4):1089-91.
2006: Annalisa Botta; caldarola sara; Laura Vallo; Emanuela Bonifazi; Doriana Fruci; Francesca Gullotta; Roberto Massa; Giuseppe Novelli; Fabrizio Loreni
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).
Biochimica et biophysica acta 2006;1762(3):329-34.
2006: Emanuela Bonifazi; Francesca Gullotta; Laura Vallo; Raniero Iraci; Anna Maria Nardone; Ercole Brunetti; Annalisa Botta; Giuseppe Novelli
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I.
Clinical chemistry 2006;52(2):319-22.
2006: Emiliano Giardina; Cecilia Sinibaldi; Loredana Chini; Viviana Moschese; Giorgiana Marulli; Alessia Provini; Paolo Rossi; Mauro Paradisi; Sergio Chimenti; Elena Galli; Ercole Brunetti; Giampiero Girolomoni; Giuseppe Novelli
Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21.
Human heredity 2006;61(4):229-36.
2006: Emiliano Giardina; Irene Predazzi; Cecilia Sinibaldi; Cristina Peconi; Amerio Paolo; Antonio Costanzo; Andrea Paradisi ; Rodolfo Capizzi; Mauro Paradisi; Sergio Chimenti; Egisto Taccari; Giuseppe Novelli
PSORS2 markers are not associated with psoriatic arthritis in the Italian population.
Human heredity 2006;61(2):120-2.
2005: Ruggiero Mango; Lucia Vecchione; Barbara Raso; Paola Borgiani; Ercole Brunetti; Jawahar L Mehta; Renato Lauro; Francesco Romeo; Giuseppe Novelli
Pharmacogenomics in cardiovascular disease: the role of single nucleotide polymorphisms in improving drug therapy.
Expert opinion on pharmacotherapy 2005;6(15):2565-76.
2005: Annalisa Botta; Alessandra Tacconelli; I Bagni; Emiliano Giardina; Emanuela Bonifazi; Adalgisa Pietropolli; M Clementi; Giuseppe Novelli
Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
Neurology 2005;65(10):1631-5.
2005: Ilaria Filesi; Francesca Gullotta; Giovanna Lattanzi; Maria Rosaria D'Apice; Cristina Capanni; Anna Maria Nardone; Marta Columbaro; Gioacchino Scarano; Elisabetta Mattioli; Patrizia Sabatelli; Nadir M Maraldi; Silvia Biocca; Giuseppe Novelli
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.
Physiological genomics 2005;23(2):150-8.
2005: Ruggiero Mango; Silvia Biocca; Francesca del Vecchio; Fabrizio Clementi; Federica Sangiuolo; Francesca Amati; Antonio Filareto; Sandro Grelli; Paola Spitalieri; Ilaria Filesi; Cartesio Favalli; Renato Lauro; Jawahar L Mehta; Francesco Romeo; Giuseppe Novelli
In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction.
Circulation research 2005;97(2):152-8.
2005: F Del Vecchio; Antonio Filareto; Paola Spitalieri; Federica Sangiuolo; Giuseppe Novelli
Cellular genetic therapy.
Transplantation proceedings 2005;37(6):2657-61.
2005: Giuseppe Novelli; Massimo Rossi; Giancarlo Ferretti; Francesco Nudo; Alessandro Bussotti; Gianluca Mennini; Luigi Novelli; Stefano Ferretti; Fabio Antonellis; S Martelli; Pasquale Berloco
Molecular adsorbent recirculating system treatment for acute hepatic failure in patients with hepatitis B undergoing chemotherapy for non-Hodgkin's lymphoma.
Transplantation proceedings 2005;37(6):2560-2.
2005: Giuseppe Novelli; Massimo Rossi; M Pretagostini; Francesco Pugliese; Franco Ruberto; Luigi Novelli; Francesco Nudo; Alessandro Bussotti; Stefano Ginanni Corradini; S Martelli; Pasquale Berloco
One hundred sixteen cases of acute liver failure treated with MARS.
Transplantation proceedings 2005;37(6):2557-9.
2005: Manuela Merli; Giorgia Nicolini; Federica Gentili; Giuseppe Novelli; Massimo Iappelli; Giovanni Enrico Casciaro; Ugo Di Tondo; Irene Pecorella; A Marasco; Andrea Onetti Muda; Francesco Nudo; Gianluca Mennini; Stefano Ginanni-Corradini; Oliviero Riggio; Pasquale Berloco; Adolfo Francesco Attili; Massimo Rossi
Predictive factors of outcome after liver transplantation in patients with cirrhosis and hepatocellular carcinoma.
Transplantation proceedings 2005;37(6):2535-40.
2005: Federica Sangiuolo; Antonio Filareto; Paola Spitalieri; lucia scaldaferri; Ruggiero Mango; Emanuela Bruscia; Gennaro Citro; Ercole Brunetti; Massimo De Felici; Giuseppe Novelli
In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement.
Human gene therapy 2005;16(7):869-80.
2005: Luciano Merlini; Patrizia Sabatelli; Marta Columbaro; Emanuela Bonifazi; Valerio Pisani; Roberto Massa; Giuseppe Novelli
Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.
Muscle & nerve 2005;31(6):764-7.
2005: Laura Vallo; Emanuela Bonifazi; Paola Borgiani; Giuseppe Novelli; Annalisa Botta
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
Molecular and cellular probes 2005;19(1):71-4.
2004: Maria Rosaria D'Apice; stefano gambardella; Silvia Russo; Vincenzina Lucidi; Anna Maria Nardone; Adalgisa Pietropolli; Giuseppe Novelli
Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.
Prenatal diagnosis 2004;24(12):981-3.
2004: Emiliano Giardina; Francesca Capon; M C De Rosa; Ruggiero Mango; Giovanna Zambruno; Angela Orecchia; Sergio Chimenti; B Giardina; Giuseppe Novelli
Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus.
Annals of human genetics 2004;68(Pt 6):639-45.
2004: Federica Sangiuolo; Antonio Filareto; Emiliano Giardina; Anna Maria Nardone; Gianluigi Pilu; Adalgisa Pietropolli; Enrico Bertini; Giuseppe Novelli
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy.
Prenatal diagnosis 2004;24(10):839-41.
2004: Federica Sangiuolo; Maria Rosaria D'Apice; stefano gambardella; Nicola Di Daniele; Giuseppe Novelli
Toward the pharmacogenomics of cystic fibrosis--an update.
Pharmacogenomics 2004;5(7):861-78.
2004: Emanuela Bonifazi; Laura Vallo; Emiliano Giardina; Annalisa Botta; Giuseppe Novelli
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 2004;13(3):164-6.
2004: Emiliano Giardina; Cecilia Sinibaldi; Giuseppe Novelli
The psoriasis genetics as a model of complex disease.
Current drug targets. Inflammation and allergy 2004;3(2):129-36.
2004: Emiliano Giardina; Giuseppe Novelli; Antonio Costanzo; Steven Nisticò; Cristina Bulli; Cecilia Sinibaldi; Maria Laura Sorgi; Sergio Chimenti; Francesco Pallone; Egisto Taccari; Paola Borgiani
Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population.
The Journal of investigative dermatology 2004;122(5):1106-7.
2004: Maria Cristina Digilio; Isabella Torrente; Judith A Goodship; Bruno Marino; Giuseppe Novelli; Aldo Giannotti; Bruno Dallapiccola
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p.
American journal of medical genetics. Part A 2004;126A(3):319-23.
2004: Maria Rosaria D'Apice; stefano gambardella; Mario Bengala; Silvia Russo; Anna Maria Nardone; Vincenzina Lucidi; Federica Sangiuolo; Giuseppe Novelli
Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
BMC medical genetics 2004;5():8.
2004: Renzo Pretagostini; Massimo Rossi; Massimo Iappelli; Luca Poli; P Buzzone; Giovanni Enrico Casciaro; Fatima Della Pietra; Giuseppe Novelli; Paola Cinti; Pasquale Berloco
Survival in kidney transplantation from living donors: a single-center experience.
Transplantation proceedings 2004;36(3):467-9.
2004: Giuseppe Novelli; Katia Margiotti; Anna Maria Chiocca; Enrico Spera; Francesco Micali; Juergen K V Reichardt
Pharmacogenetics of human androgens and prostate cancer--an update.
Pharmacogenomics 2004;5(3):283-94.
2004: Federica Sangiuolo; Mauro Magnani; Dwight Stambolian; Giuseppe Novelli
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Human mutation 2004;23(4):396.
2004: Gianmarco Contino; Francesca Amati; Sabina Pucci; Eugenio Pontieri; Flavia Pichiorri; Antonio Novelli; Annalisa Botta; Ruggiero Mango; Anna Maria Nardone; Federica Sangiuolo; Gennaro Citro; Luigi Giusto Spagnoli; Giuseppe Novelli
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues.
Gene 2004;328():69-74.
2004: Piero Vavassori; Paola Borgiani; Livia Biancone; Maria Rosaria D'Apice; Giovanna Del Vecchio Blanco; Laura Vallo; Francesca De Nigris; Ivan Monteleone; Giovanni Monteleone; Francesco Pallone; Giuseppe Novelli
CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease.
Inflammatory bowel diseases 2004;10(2):116-21.
2004: Chiara Dotti; Maria Rosaria D'Apice; Paola Rogliani; Giuseppe Novelli; Cesare Saltini; Massimo Amicosante
Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders 2004;21(1):29-34.
2004: Francesca Amati; Michela Biancolella; Maria Rosaria D'Apice; stefano gambardella; Ruggiero Mango; Paolo Sbraccia; Monica D'Adamo; Katia Margiotti; Anna Maria Nardone; Marc Lewis; Giuseppe Novelli
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays.
Gene expression 2004;12(1):39-47.
2004: Dieter C Gruenert; Karl Kunzelmann; Giuseppe Novelli; Alessia Colosimo; Robert Kapsa; Emanuela Bruscia
Oligonucleotide-based gene targeting approaches.
Oligonucleotides 2004;14(2):157-8; author reply 158-60.
2003: Ruggiero Mango; Fabrizio Clementi; Paola Borgiani; Giovanni B Forleo; M Federici; Gianmarco Contino; Emiliano Giardina; Luis Garza; Ibrahim E Fahdi; Renato Lauro; Jawahar L Mehta; Giuseppe Novelli; Francesco Romeo
Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction.
Journal of medical genetics 2003;40(12):933-6.
2003: Giuseppe Novelli; Maria Rosaria D'Apice
The strange case of the "lumper" lamin A/C gene and human premature ageing.
Trends in molecular medicine 2003;9(9):370-5.
2003: Giuseppe Novelli; Paola Borgiani; Emiliano Giardina; Ruggiero Mango; Gianmarco Contino; Francesco Romeo; Jawahar L Mehta
Role of genetics in prevention of coronary atherosclerosis.
Current opinion in cardiology 2003;18(5):368-71.
2003: Dieter C Gruenert; Emanuela Bruscia; Giuseppe Novelli; Alessia Colosimo; Bruno Dallapiccola; Federica Sangiuolo; Kaarin K Goncz
Sequence-specific modification of genomic DNA by small DNA fragments.
The Journal of clinical investigation 2003;112(5):637-41.
2003: Francesca Amati; Ivano Condò; Emanuela Conti; Federica Sangiuolo; Bruno Dallapiccola; Roberto Testi; Giuseppe Novelli
Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies.
Cell biochemistry and function 2003;21(3):263-7.
2003: Sabrina Semprini; Cheryl C Collins; Kaarin C Goncz; Giuseppe Novelli; Dieter C Gruenert
Construction and purification of pSABR 01, a pUC19-derived vector optimized for cloning full-length cDNA.
Biotechnology letters 2003;25(15):1275-80.
2003: Alessandro De Luca; Mario Rizzardi; Anna Buccino; Rosina Alessandroni; Gian Paolo Salvioli; Nando Filograsso; Giuseppe Novelli; Bruno Dallapiccola
Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants.
Neurogenetics 2003;4(4):207-12.
2003: Marina Pierdominici; Francesca Mazzetta; Elisabetta Caprini; Marco Marziali; Maria Cristina Digilio; Bruno Marino; Alessandro Aiuti; Francesca Amati; Giandomenico Russo; Giuseppe Novelli; Franco Pandolfi; Giuseppe Luzi; Antonello Giovannetti
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Clinical and experimental immunology 2003;132(2):323-31.
2002: Paola Borgiani; Laura Vallo; Maria Rosaria D'Apice; Emiliano Giardina; Sabina Pucci; Francesca Capon; Steven Nisticò; Sergio Chimenti; Francesco Pallone; Giuseppe Novelli
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population.
European journal of dermatology : EJD 2002;12(6):540-2.
2002: Leila Baghernajad Salehi; Massimo Mangino; Salvatore De Serio; Domenico De Cicco; Francesca Capon; Sabrina Semprini; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.
Human genetics 2002;111(4-5):401-4.
2002: Sabrina Semprini; Francesca Capon; Alessandra Tacconelli; Emiliano Giardina; Angela Orecchia; Rita Mingarelli; Tommaso Gobello; Giovanna Zambruno; Annalisa Botta; Giuseppe Fabrizi; Giuseppe Novelli
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees.
Human genetics 2002;111(4-5):310-3.
2002: Federica Sangiuolo; Emanuela Bruscia; Annalucia Serafino; Anna Maria Nardone; Emanuela Bonifazi; Monica Lais; Dieter C Gruenert; Giuseppe Novelli
In vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.
BMC medical genetics 2002;3():8.
2002: Katia Margiotti; Eugene Kim; Celeste L Pearce; Enrico Spera; Giuseppe Novelli; Juergen K V Reichardt
Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.
The Prostate 2002;53(1):65-8.
2002: Giuseppe Novelli; Antoine Muchir; Federica Sangiuolo; Anne Helbling-Leclerc; Maria Rosaria D'Apice; Catherine Massart; Francesca Capon; Paolo Sbraccia; Massimo Federici; Renato Lauro; Cosimo Tudisco; Rosanna Pallotta; Gioacchino Scarano; Bruno Dallapiccola; Luciano Merlini; Gisèle Bonne
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
American journal of human genetics 2002;71(2):426-31.
2002: Emiliano Giardina; Francesca Capon; Maria Rosaria D'Apice; Francesca Amati; Franco Arturi; Sebastiano Filetti; Emanuela Bonifazi; Sabina Pucci; Chiara Conte; Giuseppe Novelli
Mutational analysis of Peroxiredoxin IV: exclusion of a positional candidate for multinodular goitre.
BMC medical genetics 2002;3():5.
2002: Emanuela Bruscia; Federica Sangiuolo; P Sinibaldi; Kaarin K Goncz; Giuseppe Novelli; Dieter C Gruenert
Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting.
Gene therapy 2002;9(11):683-5.
2002: Dieter C Gruenert; Giuseppe Novelli; Bruno Dallapiccola; Alessia Colosimo
Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy.
Gene therapy 2002;9(11):653-7.
2002: Francesca Amati; Emanuela Conti; Annalisa Botta; Paola Amicucci; Bruno Dallapiccola; Giuseppe Novelli
Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).
Cell biochemistry and function 2002;20(2):163-70.
2002: Piero Vavassori; Paola Borgiani; Maria Rosaria D'Apice; F De Negris; Giovanna Del Vecchio Blanco; Ivan Monteleone; Livia Biancone; Giuseppe Novelli; E Pallone
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2002;34(2):153.
2002: Federica Sangiuolo; Maria Rosaria D'Apice; Emanuela Bruscia; Vincenzina Lucidi; Giuseppe Novelli
Towards the pharmacogenomics of cystic fibrosis.
Pharmacogenomics 2002;3(1):75-87.
2002: Giuseppe Novelli; Dieter C Gruenert
Genome medicine: gene therapy for the millennium.
Pharmacogenomics 2002;3(1):15-8.
2001: Annalisa Botta; Francesca Amati; Giuseppe Novelli
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: clues from mouse models.
Trends in genetics : TIG 2001;17(10):551-4.
2001: Annalisa Botta; C Tandoi; G Fini; G Calabrese; Bruno Dallapiccola; Giuseppe Novelli
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L).
Gene 2001;275(1):39-46.
2001: Massimo Mangino; Elisabetta Flex; Francesca Capon; Federica Sangiuolo; E Carraro; Francesca Gualandi; M Mazzoli; martini alessandro; Giuseppe Novelli; Bruno Dallapiccola
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.
European journal of human genetics : EJHG 2001;9(9):667-71.
2001: Alessandro De Luca; Augusto Pasini; Francesca Amati; Annalisa Botta; Gianfranco Spalletta; S Alimenti; F Caccamo; Emanuela Conti; Joseph Trakalo; Fabio Macciardi; Bruno Dallapiccola; Giuseppe Novelli
Association study of a promoter polymorphism of UFD1L gene with schizophrenia.
American journal of medical genetics 2001;105(6):529-33.
2001: Kaarin K Goncz; Alessia Colosimo; Bruno Dallapiccola; LUCIE GAGNÉ; K Hong; Giuseppe Novelli; D Papahadjopoulos; T Sawa; Hans Schreier; jeanine wiener-kronish; Z Xu; Dieter C Gruenert
Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.
Gene therapy 2001;8(12):961-5.
2001: Francesca Capon; Sabrina Semprini; Sergio Chimenti; Giuseppe Fabrizi; Giovanna Zambruno; S Murgia; C Carcassi; M Fazio; Rita Mingarelli; Bruno Dallapiccola; Giuseppe Novelli
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21.
The Journal of investigative dermatology 2001;116(5):728-30.
2001: Alessandro De Luca; M Rizzardi; Isabella Torrente; Rosina Alessandroni; Gian Paolo Salvioli; N Filograsso; Bruno Dallapiccola; Giuseppe Novelli
Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates.
Neurogenetics 2001;3(2):79-82.
2001: Giuseppe Novelli; Massimo Rossi; Renzo Pretagostini; Luca Poli; D Peritore; Pasquale Berloco; A Di Nicuolo; Massimo Iappelli; Raffaello Cortesini
Use of MARS in the treatment of acute liver failure: preliminar monocentric experience.
Transplantation proceedings 2001;33(1-2):1942-4.
2001: Massimo Rossi; Paolo De Simone; D Peritore; Massimo Iappelli; Renzo Pretagostini; Maria Teresa Lonardo; C Cancrini; Giuseppe Novelli; Francesco Nudo; V De Blasis; R Donadio; Pasquale Berloco; Raffaello Cortesini
Liver transplantation: expanding the donor pool.
Transplantation proceedings 2001;33(1-2):1307-9.
2001: Luca Poli; Renzo Pretagostini; Massimo Rossi; Giuseppe Novelli; Pasquale Berloco; Massimo Iappelli; Giovanni Enrico Casciaro; V De Blasis; M Colonnello; C Cancrini; D Peritore; Raffaello Cortesini
Effect of HLA compatibility, pregnancies, blood transfusions, and taboo mismatches in living unrelated kidney transplantation.
Transplantation proceedings 2001;33(1-2):1136-8.
2001: Giuseppe Novelli; Katia Margiotti; Federica Sangiuolo; Juergen K V Reichardt
Pharmacogenetics of human androgens and prostatic diseases.
Pharmacogenomics 2001;2(1):65-72.
2001: C Tandoi; Annalisa Botta; G Fini; Federica Sangiuolo; Giuseppe Novelli; R Ricci; G Zampino; C Anichini; Bruno Dallapiccola
Exclusion of the elastin gene in the pathogenesis of Costello syndrome.
American journal of medical genetics 2001;98(3):286-7.
2001: Alessandro De Luca; Isabella Torrente; Massimo Mangino; R Danesi; Bruno Dallapiccola; Giuseppe Novelli
Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.
Mutation research 2001;432(3-4):79-82.
2001: Antonia Ratti; Francesca Amati; M Bozzali; Emanuela Conti; Federica Sangiuolo; Maria Berloco; G Palumbo; A Botta; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster.
Cytogenetics and cell genetics 2001;92(3-4):279-82.
2001: Sabrina Semprini; Alessandra Tacconelli; Francesca Capon; F Brancati; Bruno Dallapiccola; Giuseppe Novelli
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.
Genetic testing 2001;5(1):33-7.
2000: Federica Sangiuolo; Emanuela Bruscia; Francesca Capon; Serenella Servidei; Bruno Dallapiccola; Giuseppe Novelli
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3.
European journal of human genetics : EJHG 2000;8(10):809-12.
2000: Francesca Capon; Alessandra Tacconelli; Emiliano Giardina; S Sciacchitano; R Bruno; Vittorio Tassi; Vincenzo Trischitta; Sebastiano Filetti; Bruno Dallapiccola; Giuseppe Novelli
Mapping a dominant form of multinodular goiter to chromosome Xp22.
American journal of human genetics 2000;67(4):1004-7.
2000: Cosimo Tudisco; G Canepa; Giuseppe Novelli; Bruno Dallapiccola
Familial mandibuloacral dysplasia: report of an additional Italian patient.
American journal of medical genetics 2000;94(3):237-41.
2000: Francesca Capon; Bruno Dallapiccola; Giuseppe Novelli
Advances in the search for psoriasis susceptibility genes.
Molecular genetics and metabolism 2000;71(1-2):250-5.
2000: Giuseppe Novelli; Juergen K V Reichardt
Molecular basis of disorders of human galactose metabolism: past, present, and future.
Molecular genetics and metabolism 2000;71(1-2):62-5.
2000: Alessia Colosimo; Kaarin K Goncz; A R Holmes; K Kunzelmann; Giuseppe Novelli; R W Malone; M J Bennett; Dieter C Gruenert
Transfer and expression of foreign genes in mammalian cells.
BioTechniques 2000;29(2):314-8, 320-2, 324 passim.
2000: Sabrina Semprini; Ruggiero Mango; F Brancati; Bruno Dallapiccola; Lucia Becherini; Giuseppe Novelli; A De Lorenzo; M L Brandi; L Gennari
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women.
Calcified tissue international 2000;67(1):93-4.
2000: Marina Pierdominici; Marco Marziali; Antonello Giovannetti; A Oliva; R Rosso; Bruno Marino; Maria Cristina Digilio; A Giannotti; Giuseppe Novelli; B Dallapiccola; Fernando Aiuti; Franco Pandolfi
T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome.
Clinical and experimental immunology 2000;121(1):127-32.
2000: Paola Amicucci; Massimo Gennarelli; Giuseppe Novelli; Bruno Dallapiccola
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.
Clinical chemistry 2000;46(2):301-2.
2000: Katia Margiotti; Federica Sangiuolo; Alessandro De Luca; F Froio; Celeste L Pearce; V Ricci-Barbini; Francesco Micali; M Bonafe; C Franceschi; Bruno Dallapiccola; Giuseppe Novelli; Juergen K V Reichardt
Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.
Disease markers 2000;16(3-4):147-50.
1999: Annalisa Botta; Federica Sangiuolo; L Calza; L Giardino; S Potenza; Giuseppe Novelli; Bruno Dallapiccola
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.
Genomics 1999;62(3):525-8.
1999: Francesca Amati; Emanuela Conti; Antonio Novelli; Mario Bengala; M C Diglio; Bruno Marino; A Giannotti; Orazio Gabrielli; Giuseppe Novelli; Bruno Dallapiccola
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
European journal of human genetics : EJHG 1999;7(8):903-9.
1999: Francesca Capon; Sabrina Semprini; Bruno Dallapiccola; Giuseppe Novelli
Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.
American journal of human genetics 1999;65(6):1798-800.
1999: Serenella Servidei; Francesca Capon; antonella spinazzola; Massimiliano Mirabella; Sabrina Semprini; G de Rosa; Massimo Gennarelli; Federica Sangiuolo; Enzo Ricci; Harvey W Mohrenweiser; Bruno Dallapiccola; Pietro Tonali; Giuseppe Novelli
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Neurology 1999;53(4):830-7.
1999: Antonio Novelli; M Sabani; A Caiola; M C Digilio; A Giannotti; Rita Mingarelli; Giuseppe Novelli; Bruno Dallapiccola
Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
Molecular and cellular probes 1999;13(4):303-7.
1999: Massimo Mangino; O Sanchez; Isabella Torrente; Alessandro De Luca; Francesca Capon; Giuseppe Novelli; Bruno Dallapiccola
Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.
American journal of human genetics 1999;65(2):441-7.
1999: A Colosimo; Annalucia Serafino; Federica Sangiuolo; S Di Sario; Emanuela Bruscia; Paola Amicucci; Giuseppe Novelli; Bruno Dallapiccola; G Mossa
Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.
Biochimica et biophysica acta 1999;1419(2):186-94.
1999: Massimo Gennarelli; M Pavoni; Fulvio Cruciani; Gianfranco De Stefano; Bruno Dallapiccola; Giuseppe Novelli
CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia.
Human genetics 1999;105(1-2):165-7.
1999: Giuseppe Novelli; Francesca Amati; Bruno Dallapiccola
UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
Trends in genetics : TIG 1999;15(7):251-4.
1999: Antonio Pizzuti; Giuseppe Novelli; Antonia Ratti; Francesca Amati; Roberta Bordoni; Paola Mandich; Emilia Bellone; Emanuela Conti; Mario Bengala; A Mari; Vincenzo Silani; Bruno Dallapiccola
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.
Molecular genetics and metabolism 1999;67(3):227-35.
1999: Annalisa Botta; Giuseppe Novelli; A Mari; Antonio Novelli; M Sabani; J Korenberg; Lucy Osborne; M C Digilio; A Giannotti; Bruno Dallapiccola
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Journal of medical genetics 1999;36(6):478-80.
1999: Massimo Gennarelli; M Pavoni; Paola Amicucci; Corrado Angelini; E Menegazzo; G Zelano; Giuseppe Novelli; Bruno Dallapiccola
Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.
Neuromuscular disorders : NMD 1999;9(4):215-9.
1999: Annalucia Serafino; Giuseppe Novelli; S Di Sario; A Colosimo; Paola Amicucci; Federica Sangiuolo; G Mossa; Bruno Dallapiccola
Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.
Biochemistry and molecular biology international 1999;47(2):337-44.
1999: Sabrina Semprini; Francesca Capon; S Bovolenta; Emanuela Bruscia; Antonio Pizzuti; Giuseppe Fabrizi; Cataldo Schietroma; Giovanna Zambruno; Bruno Dallapiccola; Giuseppe Novelli
Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility.
Human genetics 1999;104(2):130-4.
1999: Massimo Mangino; Isabella Torrente; Alessandro De Luca; O Sanchez; Bruno Dallapiccola; Giuseppe Novelli
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.
Journal of human genetics 1999;44(1):76-7.
1999: Francesca Capon; Giuseppe Novelli; Sabrina Semprini; M Clementi; M Nudo; P Vultaggio; Cinzia Mazzanti; Tommaso Gobello; Annalisa Botta; Giuseppe Fabrizi; Bruno Dallapiccola
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1.
The Journal of investigative dermatology 1999;112(1):32-5.
1999: Alessandro De Luca; Isabella Torrente; Massimo Mangino; E Bertini; Bruno Dallapiccola; Giuseppe Novelli
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.
Human heredity 1999;49(1):59-60.
1998: Massimo Gennarelli; M Pavoni; Paola Amicucci; Giuseppe Novelli; Bruno Dallapiccola
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.
Diagnostic molecular pathology : the American journal of surgical pathology, part B 1998;7(3):135-7.
1998: Massimo Gennarelli; M Lucarelli; Paola Amicucci; S Soddu; Giuseppe Novelli; Bruno Dallapiccola
Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity.
Cell biochemistry and function 1998;16(2):117-22.
1998: Isabella Torrente; Massimo Mangino; Alessandro De Luca; Rita Mingarelli; M Gennarelli; Aldo Giannotti; Giuseppe Novelli; Bruno Dallapiccola
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
Prenatal diagnosis 1998;18(5):504-6.
1998: Maria Lisa Marcon; Chiara Briani; Mario Ermani; E Menegazzo; Vincenzo Iurilli; Giuseppe Feltrin; Giuseppe Novelli; Massimo Gennarelli; Corrado Angelini
Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients.
Italian journal of neurological sciences 1998;19(2):75-80.
1998: Giuseppe Novelli; A Mari; Francesca Amati; A Colosimo; Federica Sangiuolo; Mario Bengala; Emanuela Conti; Antonia Ratti; Roberta Bordoni; Antonio Pizzuti; A Baldini; R Crinelli; Franco Pandolfi; M Magnani; Bruno Dallapiccola
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).
Biochimica et biophysica acta 1998;1396(2):158-62.
1998: A Mari; Francesca Amati; Emanuela Conti; Mario Bengala; Giuseppe Novelli; Bruno Dallapiccola
A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region.
Clinical genetics 1998;53(3):226-7.
1998: Federica Sangiuolo; Annalisa Botta; A Mesoraca; Serenella Servidei; Luciano Merlini; G Fratta; Giuseppe Novelli; Bruno Dallapiccola
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
Human mutation 1998;11(4):331.
1997: Dario Alfani; Renzo Pretagostini; Massimo Rossi; Luca Poli; Paolo De Simone; M Colonnello; Giuseppe Novelli; D Urbano; Sante Venettoni; Guido G Persijn; Jaqueline Smits; Raffaello Cortesini
Analysis of 160 consecutive living unrelated kidney transplants: 1983-1997.
Transplantation proceedings 1997;29(8):3399-401.
1997: Isabella Torrente; Massimo Mangino; M Gennarelli; Giuseppe Novelli; A Giannotti; P Vadalà; Bruno Dallapiccola
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
American journal of medical genetics 1997;72(2):242-4.
1997: Giuseppe Novelli; Laura Calzà; Paola Amicucci; Luciana Giardino; M Pozza; V Silani; Antonio Pizzuti; Massimo Gennarelli; G Piombo; Francesca Capon; Bruno Dallapiccola
Expression study of survival motor neuron gene in human fetal tissues.
Biochemical and molecular medicine 1997;61(1):102-6.
1997: Giuseppe Novelli; Sabrina Semprini; Francesca Capon; Bruno Dallapiccola
A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation.
Neurogenetics 1997;1(1):29-30.
1997: Antonio Pizzuti; Giuseppe Novelli; Antonia Ratti; Francesca Amati; A Mari; Giuseppe Calabrese; Silvia K Nicolis; Vincenzo Silani; Bruno Marino; Guglielmo Scarlato; Sergio Ottolenghi; Bruno Dallapiccola
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.
Human molecular genetics 1997;6(2):259-65.
1997: Marco Lucarelli; Massimo Gennarelli; Patrizia Cardelli; Giuseppe Novelli; Sigfrido Scarpa; Bruno Dallapiccola; Roberto Strom
Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels.
FEBS letters 1997;401(1):53-8.
1997: Bruno Dallapiccola; Isabella Torrente; Rita Mingarelli; Giuseppe Novelli
From genetic research into clinical practice.
Acta geneticae medicae et gemellologiae 1997;46(3):139-46.
1996: Massimo Gennarelli; Giuseppe Novelli; F Andreasi Bassi; Lluis Martorell; M Cornet; E Menegazzo; Maria Luisa Mostacciuolo; J M Martinez; Corrado Angelini; Antonio Pizzuti; Montserrat Baiget; Bruno Dallapiccola
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
American journal of medical genetics 1996;65(4):342-7.
1996: Giuseppe Novelli
Spinal muscular atrophy: resources available on the World Wide Web.
Molecular medicine today 1996;2(9):369.
1996: Francesca Capon; C Levato; Luciano Merlini; Corrado Angelini; M L Mostacciuolo; L Politano; Giuseppe Novelli; Bruno Dallapiccola
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.
Neuromuscular disorders : NMD 1996;6(4):261-4.
1996: A Mesoraca; Gianluigi Pilu; A Perolo; Giuseppe Novelli; N Salfi; A Lucchi; Luciano Bovicelli; Bruno Dallapiccola
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.
Prenatal diagnosis 1996;16(8):764-8.
1996: Antonio Pizzuti; Francesca Amati; Giuseppe Calabrese; A Mari; A Colosimo; Vincenzo Silani; Luciana Giardino; Antonia Ratti; D Penso; Laura Calzà; Giandomenico Palka; Guglielmo Scarlato; Giuseppe Novelli; Bruno Dallapiccola
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.
Human molecular genetics 1996;5(7):953-8.
1996: Rita Mingarelli; Maria Cristina Digilio; A Mari; Francesca Amati; L Standoli; A Giannotti; Giuseppe Novelli; Bruno Dallapiccola
The search for hemizygosity at 22qll in patients with isolated cleft palate.
Journal of craniofacial genetics and developmental biology 1996;16(2):118-21.
1996: B Dallapiccola; Rita Mingarelli; Massimo Gennarelli; Giuseppe Novelli
[Genetic aspects of deafness].
Acta otorhinolaryngologica Italica : organo ufficiale della Società italiana di otorinolaringologia e chirurgia cervico-facciale 1996;16(2):79-90.
1996: Antonio Pizzuti; Giuseppe Novelli; A Mari; Antonia Ratti; A Colosimo; Francesca Amati; D Penso; Federica Sangiuolo; Giuseppe Calabrese; Giandomenico Palka; Vincenzo Silani; Massimo Gennarelli; Rita Mingarelli; Guglielmo Scarlato; Peter J Scambler; Bruno Dallapiccola
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.
American journal of human genetics 1996;58(4):722-9.
1996: Giuseppe Novelli; Francesca Capon; C Levato; A Cavicchini; Bruno Dallapiccola
DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies.
Clinical chemistry 1996;42(4):643-4.
1996: Francesca Capon; C Levato; Sabrina Semprini; Antonio Pizzuti; Luciano Merlini; Giuseppe Novelli; Bruno Dallapiccola
Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.
Muscle & nerve 1996;19(3):378-80.
1996: A Massari; Giuseppe Novelli; A Colosimo; Federica Sangiuolo; Giandomenico Palka; Giuseppe Calabrese; L Camurri; G Ghirardini; G Milani; C Giorlandino; Giancarlo Gazzanelli; Manuela Malatesta; C Romanini; Bruno Dallapiccola
Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.
Human genetics 1996;97(2):150-5.
1996: P Maceratesi; Federica Sangiuolo; Giuseppe Novelli; P Ninfali; M Magnani; Juergen K V Reichardt; Bruno Dallapiccola
Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
Human mutation 1996;8(4):369-72.
1996: A Colosimo; Giuseppe Calabrese; Massimo Gennarelli; A M Ruzzo; Federica Sangiuolo; Mauro Magnani; Giandomenico Palka; Giuseppe Novelli; Bruno Dallapiccola
Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization.
Cytogenetics and cell genetics 1996;74(3):187-8.
1996: A Colosimo; Giuseppe Novelli; A Cavicchini; Bruno Dallapiccola
Detection of eight beta-thalassemia mutations using a DNA enzyme immunoassay.
International journal of clinical & laboratory research 1996;26(2):136-9.
1996: Francesca Capon; C Levato; E Bussaglia; S Lo Cicero; Eduardo F Tizzano; Montserrat Baiget; Vincenzo Silani; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
Human mutation 1996;7(3):198-201.
1995: Massimo Gennarelli; Marco Lucarelli; G Zelano; Antonio Pizzuti; Giuseppe Novelli; Bruno Dallapiccola
Different expression of the myotonin protein kinase gene in discrete areas of human brain.
Biochemical and biophysical research communications 1995;216(2):489-94.
1995: A Mari; Francesca Amati; Rita Mingarelli; A Giannotti; G Sebastio; V Colloridi; Giuseppe Novelli; Bruno Dallapiccola
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
Human genetics 1995;96(4):444-8.
1995: Massimo Gennarelli; Marco Lucarelli; Francesca Capon; Antonio Pizzuti; Luciano Merlini; Corrado Angelini; Giuseppe Novelli; Bruno Dallapiccola
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.
Biochemical and biophysical research communications 1995;213(1):342-8.
1995: Francesca Amati; A Mari; Rita Mingarelli; Massimo Gennarelli; Maria Cristina Digilio; A Giannotti; B Marino; Giuseppe Novelli; Bruno Dallapiccola
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.
American journal of medical genetics 1995;57(3):483-8.
1995: A Massari; Massimo Gennarelli; E Menegazzo; Antonio Pizzuti; Vincenzo Silani; I Mastrogiacomo; E Pagani; Corrado Angelini; G Scarlato; Giuseppe Novelli
Postzygotic instability of the myotonic dystrophy p[AGC] in repeat supported by larger expansions in muscle and reduced amplifications in sperm.
Journal of neurology 1995;242(6):379-83.
1995: Francesca Amati; A Mari; Maria Cristina Digilio; Rita Mingarelli; B Marino; A Giannotti; Giuseppe Novelli; Bruno Dallapiccola
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
Human genetics 1995;95(5):479-82.
1995: Claude Férec; Giuseppe Novelli; C Verlingue; I Quéré; B Dallapiccola; Marie-Pierre Audrézet; Bernard Mercier
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Molecular and cellular probes 1995;9(2):135-7.
1995: Giuseppe Novelli; Massimo Gennarelli; E Menegazzo; Corrado Angelini; Bruno Dallapiccola
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats.
Neuromuscular disorders : NMD 1995;5(2):157-9.
1995: Federica Sangiuolo; P Maceratesi; A Mesoraca; Annalisa Botta; A Cavicchini; Giuseppe Novelli; Bruno Dallapiccola
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.
International journal of clinical & laboratory research 1995;25(3):142-5.
1995: Salvatore Melchionda; Maria Cristina Digilio; Rita Mingarelli; Giuseppe Novelli; Peter J Scambler; B Marino; Bruno Dallapiccola
Transposition of the great arteries associated with deletion of chromosome 22q11.
The American journal of cardiology 1995;75(1):95-8.
1995: Paola Melacini; C Villanova; E Menegazzo; Giuseppe Novelli; G Danieli; Giulio Rizzoli; Giuseppe Fasoli; Corrado Angelini; Gianfranco Buja; M Miorelli
Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy.
Journal of the American College of Cardiology 1995;25(1):239-45.
1995: Francesca Capon; S Lo Cicero; C Levato; Giuseppe Novelli; Bruno Dallapiccola
De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1995;15(1):93-4.
1995: Bruno Dallapiccola; R Mingarelli; Giuseppe Novelli
The link between cytogenetics and mendelism.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1995;49(2):83-93.
1995: Bernard Mercier; C Verlingue; Willy Lissens; S J Silber; Giuseppe Novelli; M Bonduelle; Marie-Pierre Audrézet; Claude Férec
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
American journal of human genetics 1995;56(1):272-7.
1994: Massimo Gennarelli; Bruno Dallapiccola; Montserrat Baiget; Lluis Martorell; Giuseppe Novelli
Meiotic drive at the myotonic dystrophy locus.
Journal of medical genetics 1994;31(12):980.
1994: Bernard Mercier; Willy Lissens; Giuseppe Novelli; L Kalaydjieva; M de Arce; N Kapranov; N Canki Klain; X Estivill; A Palacio; S Cashman
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.
Journal of medical genetics 1994;31(9):731-4.
1994: S Lo Cicero; Francesca Capon; Salvatore Melchionda; Massimo Gennarelli; Giuseppe Novelli; Bruno Dallapiccola
First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.
Prenatal diagnosis 1994;14(6):459-62.
1994: I Mastrogiacomo; E Pagani; Giuseppe Novelli; Corrado Angelini; Massimo Gennarelli; E Menegazzo; G Bonanni; Bruno Dallapiccola
Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation.
Journal of endocrinological investigation 1994;17(5):381-3.
1994: M P Iampieri; Rita Mingarelli; E Le Guern; Giuseppe Novelli; Bruno Dallapiccola
Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.
Prenatal diagnosis 1994;14(4):285-9.
1994: Giuseppe Novelli; Gabriella Spedini; Giovanni Destro-Bisol; Massimo Gennarelli; C Fattorini; Bruno Dallapiccola
North Eurasian origin of the myotonic dystrophy mutation.
Human mutation 1994;4(1):79-81.
1994: Federica Sangiuolo; L De Santis; A Cavicchini; U Angeloni; C Romanini; Giuseppe Novelli; Bruno Dallapiccola
A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay.
International journal of clinical & laboratory research 1994;24(4):223-6.
1994: Giuseppe Novelli; Federica Sangiuolo; P Maceratesi; Bruno Dallapiccola
The up-to-date molecular genetics of cystic fibrosis.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(10):455-63.
1993: Francesca Capon; S L Cicero; Giuseppe Novelli; Bruno Dallapiccola
PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies.
PCR methods and applications 1993;3(3):211-2.
1993: Antonio Pizzuti; Massimo Gennarelli; Giuseppe Novelli; A Colosimo; S Lo Cicero; CT Caskey; Bruno Dallapiccola
Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X.
Biochemical and biophysical research communications 1993;197(1):154-62.
1993: Bruno Dallapiccola; Paola Mandich; Emilia Bellone; A Selicorni; V Mokin; Franco Ajmar; Giuseppe Novelli
Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.
American journal of medical genetics 1993;47(6):921-4.
1993: Marie-Pierre Audrézet; Giuseppe Novelli; Bernard Mercier; Federica Sangiuolo; P Maceratesi; Claude Férec; Bruno Dallapiccola
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
Human heredity 1993;43(5):295-300.
1993: Giuseppe Novelli; Massimo Gennarelli; Federica Sangiuolo; L D'Agruma; S Lo Cicero; Salvatore Melchionda; Bruno Dallapiccola
Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene.
Cell biochemistry and function 1993;11(3):187-91.
1993: Giuseppe Novelli; Massimo Gennarelli; E Menegazzo; Maria Luisa Mostacciuolo; Antonio Pizzuti; C Fattorini; D Tessarolo; G Tomelleri; M Giacanelli; Gian Antonio Danieli
(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.
Biochemical medicine and metabolic biology 1993;50(1):85-92.
1993: Francesca Capon; Salvatore Melchionda; Massimo Gennarelli; S Lo Cicero; M Giacanelli; Giuseppe Novelli; Bruno Dallapiccola
A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.
Molecular and cellular probes 1993;7(3):221-6.
1993: Domenico Del Principe; M P Iampieri; Daniela Germani; A Menichelli; Giuseppe Novelli; Bruno Dallapiccola
Detection by capillary electrophoresis of restriction fragment length polymorphism. Analysis of a polymerase chain reaction-amplified product of the DXS 164 locus in the dystrophin gene.
Journal of chromatography 1993;638(2):277-81.
1993: B Mercier; Willy Lissens; Giuseppe Novelli; L Kalaydjieva; M De Arce; N Kapranov; N C Klain; G Lenoir; P Chauveau; C Lenaerts
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Genomics 1993;16(1):296-7.
1993: Juergen K V Reichardt; Giuseppe Novelli; B Dallapiccola
Molecular characterization of the H319Q galactosemia mutation.
Human molecular genetics 1993;2(3):325-6.
1993: Giuseppe Novelli; Massimo Gennarelli; G Zelano; Antonio Pizzuti; C Fattorini; C T Caskey; Bruno Dallapiccola
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
Biochemistry and molecular biology international 1993;29(2):291-7.
1993: L D'Agruma; A Colosimo; U Angeloni; Giuseppe Novelli; Bruno Dallapiccola
Plasmid DNA and low-frequency electromagnetic fields.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1993;47(2-3):101-5.
1993: Giuseppe Novelli; Massimo Gennarelli; C Fattorini; C Abbruzzese; Bruno Dallapiccola
The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1993;47(8):321-30.
1993: Federica Sangiuolo; S Lo Cicero; P Maceratesi; S Quattrucci; Giuseppe Novelli; Bruno Dallapiccola
Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene.
Human mutation 1993;2(5):422-4.
1992: Giuseppe Novelli; Massimo Gennarelli; G Zelano; Federica Sangiuolo; S Lo Cicero; F Samson; Bruno Dallapiccola
Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.
Cell biochemistry and function 1992;10(4):251-6.
1992: Massimo Gennarelli; Salvatore Melchionda; C Fattorini; Giuseppe Novelli; Bruno Dallapiccola
Genotyping of spinal muscular atrophy families with linked DNA probes.
Clinical genetics 1992;42(6):317-9.
1992: Salvatore Melchionda; Anna Maria Cobo; Massimo Gennarelli; Lluis Martorell; C Fattorini; Montserrat Baiget; A Lopez de Munain; keith jack johnson; P Shelbourne; Giuseppe Novelli
Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
Journal of medical genetics 1992;29(11):789-90.
1992: N Pasetto; Francesco Sesti; L De Santis; Emilio Piccione; Giuseppe Novelli; Bruno Dallapiccola
The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reaction.
Gynecologic oncology 1992;46(1):33-6.
1992: Virginia Nunes; Alberto Bonizzato; A Gaona; M Dognini; M Chillón; Teresa Casals; Pier Franco Pignatti; Giuseppe Novelli; Xavier Estivill; Paolo Gasparini
A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation.
American journal of human genetics 1992;50(5):1140-2.
1992: Giuseppe Novelli; Massimo Gennarelli; M Rocchi; Bruno Dallapiccola
Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction.
Human genetics 1992;88(6):697-8.
1992: Liana Veneziano; A R D'Angelo; L Burrai; G Perugia; V Gentile; L Potenza; M P Iampieri; Andrea Novelletto; Giuseppe Novelli; Marina Frontali
DNA markers in diagnosis of adult dominant polycystic kidney disease.
European urology 1992;21 Suppl 1():57-9.
1992: Giuseppe Novelli; Massimo Gennarelli; L De Santis; P Angeloni; Bruno Dallapiccola
Inosine-containing primers in human papillomavirus detection by polymerase chain reaction.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1992;46(4):167-9.
1991: Virginia Nunes; Paolo Gasparini; Giuseppe Novelli; A Gaona; Alberto Bonizzato; Federica Sangiuolo; A Balassopoulou; F J Giménez; M Dognini; M Ravnik-Glavac
Analysis of 14 cystic fibrosis mutations in five south European populations.
Human genetics 1991;87(6):737-8.
1991: Massimo Gennarelli; Giuseppe Novelli; Anna Maria Cobo; M Baiget; Bruno Dallapiccola
3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.
Human genetics 1991;87(6):654-6.
1991: Paolo Gasparini; Virginia Nunes; A Savoia; M Dognini; N Morral; A Gaona; Alberto Bonizzato; Miguel Chillon; Federica Sangiuolo; Giuseppe Novelli
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.
Genomics 1991;10(1):193-200.
1991: Paolo Gasparini; Paola Mandich; Giuseppe Novelli; Emilia Bellone; Federica Sangiuolo; F De Stefano; L Potenza; Elisabetta Trabetti; Mario Marigo; Pier Franco Pignatti
Forensic applications of molecular genetic analysis: an Italian collaborative study on paternity testing by the determination of variable number of tandem repeat DNA polymorphisms.
Human heredity 1991;41(3):174-81.
1991: Giuseppe Novelli; Massimo Gennarelli; L Potenza; P Angeloni; Bruno Dallapiccola
Study of the effects on DNA of electromagnetic fields using clamped homogeneous electric field gel electrophoresis.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1991;45(10):451-4.
1990: Giuseppe Novelli; Paolo Gasparini; A Savoia; Pier Franco Pignatti; Federica Sangiuolo; Bruno Dallapiccola
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
Human genetics 1990;85(4):420-1.
1990: Giuseppe Novelli; Federica Sangiuolo; Bruno Dallapiccola; Paolo Gasparini; A Savoia; Pier Franco Pignatti; E Fernandez; J Benitez; Teresa Casals; Virginia Nunes
Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.
Prenatal diagnosis 1990;10(6):413-4.
1990: Paola Mandich; Gabriella Restagno; Giuseppe Novelli; Emilia Bellone; L Potenza; O Varetto; B Dallapiccola; A Carbonara; Franco Ajmar
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease.
American journal of medical genetics 1990;35(4):579-81.
1990: Paolo Gasparini; Giuseppe Novelli; Xavier Estivill; D Olivieri; A Savoia; A Ruzzo; Virginia Nunes; G Borgo; M Antonelli; R Williamson
The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.
Journal of medical genetics 1990;27(1):17-20.
1989: Xavier Estivill; Miguel Chillon; Teresa Casals; A Bosch; N Morral; V Nunes; Paolo Gasparini; A Seia; P F Pignatti; Giuseppe Novelli
Delta F508 gene deletion in cystic fibrosis in southern Europe.
Lancet 1989;2(8676):1404.
1989: Xavier Estivill; Paolo Gasparini; Giuseppe Novelli; Teresa Casals; Virginia Nunes; P Gallano; A Savoia; A Ruzzo; Bruno Dallapiccola; Pier Franco Pignatti
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations.
Human genetics 1989;83(2):175-8.
1989: Paolo Gasparini; Giuseppe Novelli; A Savoia; Bruno Dallapiccola; Pier Franco Pignatti
First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases.
Prenatal diagnosis 1989;9(5):349-55.
1989: L Potenza; Paola Mandich; Gabriella Restagno; Emilia Bellone; Giuseppe Novelli; B Dallapiccola; Franco Ajmar; A Carbonara
DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD.
Progress in clinical and biological research 1989;305():77-81.