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Antonio Pizzuti

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Chemicals & Drugs

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Italy

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Claudia Colombrita; Francesca Megiorni; Elisa Onesto; Antonio Pizzuti; Francisco E Baralle; Emanuele Buratti; Vincenzo Silani; Antonia Ratti
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.
Francesca Megiorni; Antonio Pizzuti
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
Francesca Megiorni; Barbara Mora; Antonio Pizzuti; A Rizzuti; Marta Carlesimo; G Cavaggioni; R Delle Chiaie; M C Fotruna; V Garelli; C Maxia; A Rossi
Genetic association of HLA-DQB1 and HLA-DRB1 polymorphisms with alopecia areata in the Italian population.

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2012: Claudia Colombrita; Francesca Megiorni; Elisa Onesto; Antonio Pizzuti; Francisco E Baralle; Emanuele Buratti; Vincenzo Silani; Antonia Ratti
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells.
The Journal of biological chemistry 2012;287(19):15635-47.
2012: Francesca Megiorni; Antonio Pizzuti
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing.
Journal of biomedical science 2012;19():88.
2011: Francesca Megiorni; Barbara Mora; Antonio Pizzuti; A Rizzuti; Marta Carlesimo; G Cavaggioni; R Delle Chiaie; M C Fotruna; V Garelli; C Maxia; A Rossi
Genetic association of HLA-DQB1 and HLA-DRB1 polymorphisms with alopecia areata in the Italian population.
The British journal of dermatology 2011;165(4):823-7.
2011: Antonio Pizzuti; Isabella Torrente; Irene Bottillo; Francesca Buttarelli; Alessandro De Luca; Anna Teresa Giallonardo; Francesca Inzana; Valentina Lanari; Bruno Dallapiccola
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
Neurogenetics 2011;12(3):233-40.
2011: Antonella Giancotti; Francesco Binni; Marco Castori; Valentina D'Ambrosio; Gaia Pasquali; Antonio Pizzuti; Antonella Spagnuolo; Paola Grammatico
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.
American journal of medical genetics. Part A 2011;155A(7):1756-8.
2011: Antonio Pizzuti; Simona Petrucci
Mitochondrial disfunction as a cause of ALS.
Archives italiennes de biologie 2011;149(1):113-9.
2011: Francesca Megiorni; Samantha Cialfi; Carlo Dominici; Serena Quattrucci; Antonio Pizzuti
Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding.
PloS one 2011;6(10):e26601.
2011: Francesca Megiorni; Antonio Pizzuti; Luigi Frati
Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management.
Pathology research international 2011;2011():780652.
2010: Luisa Nanni; Fabiana Quagliarini; Francesca Megiorni; Anna Montali; Ilenia Minicocci; Filomena Campagna; Antonio Pizzuti; Marcello Arca
Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.
Atherosclerosis 2010;213(1):206-11.
2010: M Luigetti; Antonio Pizzuti; S Bartoletti; H Houlden; C Pirro; Irene Bottillo; Francesca Madia; A Conte; Pietro A Tonali; Mario Sabatelli
Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.
Journal of the neurological sciences 2010;290(1-2):150-2.
2010: Paola Mandich; Marina Grandis; A Varese; Alessandro Geroldi; Massimo Acquaviva; Paola Ciotti; Rossella Gulli; Laura Doria-Lamba; Gian Maria Fabrizi; Gaia Giribaldi; Antonio Pizzuti; Angelo Schenone; Emilia Bellone
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.
Journal of child neurology 2010;25(1):107-9.
2008: Francesca Prischich; Marta De Rinaldis; Flaminia Bruno; Gabriella Egeo; Chiara Santori; Alessandra Zappaterreno; Jinane Fattouch; Carlo Di Bonaventura; Jean Bada; G Russo; Antonio Pizzuti; Francesco Cardona; Vincenzo Vullo; Anna Teresa Giallonardo; Emilio D'Erasmo; Andrea Pelliccia; Nicola Vanacore
High prevalence of epilepsy in a village in the Littoral Province of Cameroon.
Epilepsy research 2008;82(2-3):200-10.
2007: Cristina D'Abramo; Jean-Marc Zingg; Antonio Pizzuti; Francesca Argellati; MARIA ADELAIDE PRONZATO; Roberta Ricciarelli
In vitro effect of PPAR-gamma2 Pro12Ala polymorphism on the deposition of Alzheimer's amyloid-beta peptides.
Brain research 2007;1173():1-5.
2007: Anna Sarkozy; Annalisa Schirinzi; Francesca Lepri; Irene Bottillo; Alessandro De Luca; Antonio Pizzuti; Marco Tartaglia; Maria Cristina Digilio; Bruno Dallapiccola
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.
American journal of medical genetics. Part A 2007;143A(9):1009-11.
2007: Antonello Giovannetti; Marina Pierdominici; Francesca Mazzetta; Marco Marziali; Cristina Renzi; Anna Maria Mileo; Marco De Felice; Barbara Mora; Antonella Esposito; Rossella Carello; Antonio Pizzuti; Marco Giorgio Paggi; Roberto Paganelli; Walter Malorni; Fernando Aiuti
Unravelling the complexity of T cell abnormalities in common variable immunodeficiency.
Journal of immunology (Baltimore, Md. : 1950) 2007;178(6):3932-43.
2007: Irene Bottillo; Alessandro De Luca; Annalisa Schirinzi; Valentina Guida; Isabella Torrente; Stefano Calvieri; Cristina Gervasini; Lidia Larizza; Antonio Pizzuti; Bruno Dallapiccola
Functional analysis of splicing mutations in exon 7 of NF1 gene.
BMC medical genetics 2007;8():4.
2006: Anna Sarkozy; Francesca Lepri; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Bruno Dallapiccola
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.
American journal of medical genetics. Part A 2006;140(18):1970-2.
2006: Francesca Romana Mauro; Elena Giammartini; Massimo Gentile; Isabella Sperduti; Veronica Valle; Antonio Pizzuti; Anna Guarini; Diana Giannarelli; Robin Foà
Clinical features and outcome of familial chronic lymphocytic leukemia.
Haematologica 2006;91(8):1117-20.
2006: Claudio Carta; Francesca Pantaleoni; Gianfranco Bocchinfuso; Lorenzo Stella; Isabella Vasta; Anna Sarkozy; Cristina Digilio; Antonio Palleschi; Antonio Pizzuti; Paola Grammatico; Giuseppe Zampino; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
American journal of human genetics 2006;79(1):129-35.
2006: Alessandro Bertolino; Giuseppe Blasi; Valeria Latorre; Valeria Rubino; Antonio Rampino; Lorenzo Sinibaldi; Grazia Caforio; Vittoria Petruzzella; Antonio Pizzuti; Tommaso Scarabino; Marcello Nardini; Daniel R Weinberger; Bruno Dallapiccola
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006;26(15):3918-22.
2005: Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
American journal of human genetics 2005;77(6):1092-101.
2005: Cristina D'Abramo; Sara Massone; Jean-Marc Zingg; Antonio Pizzuti; Philippe Marambaud; Bruno Dalla Piccola; Angelo Azzi; Umberto M Marinari; MARIA ADELAIDE PRONZATO; Roberta Ricciarelli
Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death.
The Biochemical journal 2005;391(Pt 3):693-8.
2005: Anna Sarkozy; Emanuela Conti; Francesca Lepri; Antonio Pizzuti; Bruno Dallapiccola; Camillo Autore; Marco Tartaglia
Hyperthrophic cardiomyopathy and the PTPN11 gene.
American journal of medical genetics. Part A 2005;136(1):93-4.
2005: Barbara Mora; Margherita Bonamico; Mirella Ferri; Francesca Megiorni; John Osborn; Antonio Pizzuti; Maria Cristina Mazzilli
Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects.
Human immunology 2005;66(6):716-20.
2005: Anna Sarkozy; Emanuela Conti; Rita D'Agostino; Maria Cristina Digilio; Roberto Formigari; Fernando M Picchio; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia.
American journal of medical genetics. Part A 2005;133A(1):68-70.
2005: Anna Sarkozy; Emanuela Conti; Cinzia Neri; R D'Agostino; Maria Cristina Digilio; G Esposito; A Toscano; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.
Journal of medical genetics 2005;42(2):e16.
2005: Elisabetta Flex; Antonio Pizzuti; Carlo Di Bonaventura; S Douzgou; Gabriella Egeo; Jinane Fattouch; Mario Manfredi; Bruno Dallapiccola; Anna Teresa Giallonardo
LGI1 gene mutation screening in sporadic partial epilepsy with auditory features.
Journal of neurology 2005;252(1):62-6.
2004: Lorenzo Sinibaldi; Alessandro De Luca; Emanuele Bellacchio; Emanuela Conti; Augusto Pasini; Claudio Paloscia; Gianfranco Spalletta; Carlo Caltagirone; Antonio Pizzuti; Bruno Dallapiccola
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.
Human mutation 2004;24(6):534-5.
2004: Anna Sarkozy; Maria Gabriela Obregon; Emanuela Conti; Giorgia Esposito; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
European journal of human genetics : EJHG 2004;12(12):1069-72.
2004: Daniela Zuccarello; E Morini; S Douzgou; Alberto Ferlin; Antonio Pizzuti; Damiano Carmelo Salpietro; Carlo Foresta; Bruno Dallapiccola
Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism.
Journal of endocrinological investigation 2004;27(8):760-4.
2004: Simona Pigullo; Alessandro De Luca; Paolo Barone; Roberta Marchese; Emilia Bellone; Alessia Colosimo; Cesa Scaglione; Paolo Martinelli; Emilio Di Maria; Antonio Pizzuti; Giovanni Abbruzzese; Bruno Dallapiccola; Franco Ajmar; Paola Mandich
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
Parkinsonism & related disorders 2004;10(6):357-62.
2004: Emilio Di Maria; Rossella Gulli; Silvia Begni; Alessandro De Luca; Stefano Bignotti; Augusto Pasini; Emilia Bellone; Antonio Pizzuti; Bruno Dallapiccola; Giuseppe Novelli; Franco Ajmar; Massimo Gennarelli; Paola Mandich
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;128B(1):27-9.
2004: Anna Sarkozy; Emanuela Conti; Maria Cristina Digilio; Bruno Marino; E Morini; G Pacileo; M Wilson; R Calabrò; Antonio Pizzuti; Bruno Dallapiccola
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Journal of medical genetics 2004;41(5):e68.
2004: Antonio Pizzuti; Giovanni Fabbrini; Leila Baghernajad Salehi; Laura Vacca; Maurizio Inghilleri; Bruno Dallapiccola; A Berardelli
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.
Neurology 2004;62(6):1021-2.
2004: Antonio Pizzuti; Elisabetta Flex; Rita Mingarelli; Carmelo Damiano Salpietro; Leopoldo Zelante; Bruno Dallapiccola
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
Human mutation 2004;23(3):286.
2003: Antonio Pizzuti; Anna Sarkozy; Anthea L Newton; Emanuela Conti; Elisabetta Flex; Maria Cristina Digilio; Francesca Amati; Debora Gianni; Caterina Tandoi; Bruno Marino; Merlin Crossley; Bruno Dallapiccola
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Human mutation 2003;22(5):372-7.
2003: Anna Sarkozy; Emanuela Conti; Davide Seripa; Maria Cristina Digilio; N Grifone; Caterina Tandoi; V M Fazio; V Di Ciommo; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
Journal of medical genetics 2003;40(9):704-8.
2003: E Conti; Tania Dottorini; Anna Sarkozy; G E Tiller; G Esposito; Antonio Pizzuti; Bruno Dallapiccola
A novel PTPN11 mutation in LEOPARD syndrome.
Human mutation 2003;21(6):654.
2003: Emanuela Conti; Nicoletta Grifone; Anna Sarkozy; Caterina Tandoi; Bruno Marino; Maria Cristina Digilio; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
European journal of human genetics : EJHG 2003;11(4):349-51.
2003: Elisabetta Flex; Massimo Mangino; M Mazzoli; martini alessandro; V Migliosi; Alessia Colosimo; Rita Mingarelli; Antonio Pizzuti; Bruno Dallapiccola
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Journal of medical genetics 2003;40(4):278-81.
2003: Antonio Di Muzio; Maria Vittoria De Angelis; Patrizia Di Fulvio; Antonia Ratti; Antonio Pizzuti; Liborio Stuppia; Domenico Gambi; Antonino Uncini
Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.
Muscle & nerve 2003;27(4):500-6.
2003: Antonio Pizzuti; Elisabetta Flex; Carlo Di Bonaventura; Tania Dottorini; Gabriella Egeo; Mario Manfredi; Bruno Dallapiccola; Anna Teresa Giallonardo
Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.
Annals of neurology 2003;53(3):396-9.
2003: Giovanni Defazio; Francesco Brancati; Enza Maria Valente; Viviana Caputo; Antonio Pizzuti; Davide Martino; Giovanni Abbruzzese; Paolo Livrea; Alfredo Berardelli; Bruno Dallapiccola
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.
Movement disorders : official journal of the Movement Disorder Society 2003;18(2):207-12.
2003: Massimo Mangino; Antonio Pizzuti; Bruno Dallapiccola; Aldo Bonfante; Donatella Saccilotto; Elena Cucchiara
Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci.
American journal of medical genetics. Part A 2003;116A(3):312-4.
2002: Antonio Pizzuti; Giuseppe Calabrese; Maura Bozzali; Louise Telvi; Elisena Morizio; Valentina Guida; Valentina Gatta; Liborio Stuppia; Alexandra Ion; Giandomenico Palka; Bruno Dallapiccola
A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.
Investigative ophthalmology & visual science 2002;43(12):3609-12.
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: Antonio Pizzuti; Alessandra Argiolas; Rosa Di Paola; Roberto Baratta; Anna Rauseo; Maura Bozzali; Riccardo Vigneri; Bruno Dallapiccola; Vincenzo Trischitta; Lucia Frittitta
An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.
The Journal of clinical endocrinology and metabolism 2002;87(9):4403-6.
2002: Salvatore De Cosmo; Giuseppe Miscio; Luigi Zucaro; Maurizio Margaglione; Alessandra Argiolas; Stephen Thomas; Giampiero Piras; Roberto Trevisan; Paolo Cavallo Perin; Simonetta Bacci; Lucia Frittitta; Antonio Pizzuti; Vittorio Tassi; Giovanni Di Minno; Giancarlo Viberti; Vincenzo Trischitta
The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidence for a polygenic control of kidney disease progression.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002;17(8):1402-7.
2002: Maria Cristina Digilio; Emanuela Conti; Anna Sarkozy; Rita Mingarelli; Tania Dottorini; Bruno Marino; Antonio Pizzuti; Bruno Dallapiccola
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.
American journal of human genetics 2002;71(2):389-94.
2002: Francesco Brancati; Giovanni Defazio; Viviana Caputo; Enza Maria Valente; Antonio Pizzuti; Paolo Livrea; Alfredo Berardelli; Bruno Dallapiccola
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):392-7.
2002: Rosa Di Paola; Maria Grazia Santagati; Giuseppe Miscio; Maura Bozzali; Roberto Baratta; Marta Centra; Daniela Spampinato; Maria Santagati; Tonino Ercolino; Carmela Cisternino; Teresa Soccio; Sandra Mastroianno; Vittorio Tassi; Peter Almgren; Antonio Pizzuti; Riccardo Vigneri; Vincenzo Trischitta
A variation in 3' UTR of hPTP1B increases specific gene expression and associates with insulin resistance.
American journal of human genetics 2002;70(3):806-12.
2002: Emilia Bellone; Carmelo Rodolico; Antonio Toscano; Emilio Di Maria; Denise Cassandrini; Antonio Pizzuti; Simona Pigullo; Anna Mazzeo; Vincenzo Macaione; Paolo Girlanda; Giuseppe Vita; Franco Ajmar; Paola Mandich
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.
Neuromuscular disorders : NMD 2002;12(3):286-91.
2002: Angelo Selicorni; Silvana Guerneri; Antonia Ratti; Antonio Pizzuti
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
Human genetics 2002;110(1):64-7.
2001: Lucia Frittitta; Roberto Baratta; Daniela Spampinato; Rosa Di Paola; Antonio Pizzuti; Riccardo Vigneri; Vincenzo Trischitta
The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.
The Journal of clinical endocrinology and metabolism 2001;86(12):5888-91.
2001: Maria Grazia Santagati; Tonino Ercolino; Maura Bozzali; Alessandra Argiolas; S Graci; Maria Santagati; Daniela Spampinato; Rosa Di Paola; Carmela Cisternino; Vittorio Tassi; Riccardo Vigneri; Antonio Pizzuti; Vincenzo Trischitta
A cluster of three single nucleotide polymorphisms in the 3'-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities.
Diabetes 2001;50(8):1952-5.
2001: BV Costanzo; Vincenzo Trischitta; Rosa Di Paola; Daniela Spampinato; Antonio Pizzuti; Riccardo Vigneri; Lucia Frittitta
The Q allele variant (GLN121) of membrane glycoprotein PC-1 interacts with the insulin receptor and inhibits insulin signaling more effectively than the common K allele variant (LYS121).
Diabetes 2001;50(4):831-6.
2001: Liborio Stuppia; Valentina Gatta; Isabella Fogh; Anna Rita Gaspari; Elisena Morizio; R Mingarelli; M Di Santo; Antonio Pizzuti; Giuseppe Calabrese; Giandomenico Palka
Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene.
Genomics 2001;72(2):153-7.
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.
2000: Liborio Stuppia; Valentina Gatta; Isabella Fogh; Anna Rita Gaspari; R Grande; Elisena Morizio; Donatella Fantasia; Antonio Pizzuti; Giuseppe Calabrese; Giandomenico Palka
Characterization of novel genes in AZF regions.
Journal of endocrinological investigation 2000;23(10):659-63.
2000: HF Gu; Peter Almgren; Eero Lindholm; Lucia Frittitta; Antonio Pizzuti; V Trischitta; Leif C Groop
Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis.
Diabetes 2000;49(9):1601-3.
2000: Giuseppe Calabrese; Louise Telvi; F Capodiferro; Elisena Morizio; Antonio Pizzuti; Liborio Stuppia; Roberta Bordoni; Alexandra Ion; Donatella Fantasia; R Mingarelli; Giandomenico Palka
Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb.
European journal of human genetics : EJHG 2000;8(5):319-24.
2000: Salvatore De Cosmo; Alessandra Argiolas; Giuseppe Miscio; Stephen Thomas; Giampiero Piras; Roberto Trevisan; Paolo Cavallo Perin; Simonetta Bacci; Luigi Zucaro; Maurizio Margaglione; Lucia Frittitta; Antonio Pizzuti; Vittorio Tassi; Giancarlo Viberti; Vincenzo Trischitta
A PC-1 amino acid variant (K121Q) is associated with faster progression of renal disease in patients with type 1 diabetes and albuminuria.
Diabetes 2000;49(3):521-4.
2000: Antonia Ratti; Liborio Stuppia; Valentina Gatta; Isabella Fogh; Giuseppe Calabrese; Antonio Pizzuti; Giandomenico Palka
Characterization of a new TSPY gene family member in Yq (TSPYq1).
Cytogenetics and cell genetics 2000;88(1-2):159-62.
1999: Antonio Pizzuti; Lucia Frittitta; Alessandra Argiolas; Roberto Baratta; Ira D Goldfine; Maura Bozzali; Tonino Ercolino; G Scarlato; Licia Iacoviello; Riccardo Vigneri; Vittorio Tassi; Vincenzo Trischitta
A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.
Diabetes 1999;48(9):1881-4.
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: Paola Mandich; Emilia Bellone; Emilio Di Maria; Simona Pigullo; Antonio Pizzuti; Angelo Schenone; S Soriani; A Varese; Anthony J Windebank; Franco Ajmar
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II.
American journal of medical genetics 1999;83(5):409-10.
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.
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: P Fumagalli; M Accarino; Aliana Egeo; Paolo Scartezzini; G Rappazzo; Antonio Pizzuti; V Avvantaggiato; A Simeone; Giulia Arrigo; Orsetta Zuffardi; Sergio Ottolenghi; Roberto Taramelli
Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues.
Genomics 1998;47(2):238-45.
1997: Anna Maria Schito; Antonio Pizzuti; Emilio Di Maria; Angelo Schenone; Antonia Ratti; Raffaella Defferrari; Emilia Bellone; Giovanni Luigi Mancardi; Franco Ajmar; Paola Mandich
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit.
Neuroscience letters 1997;239(1):49-53.
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: 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.
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: 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: 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: 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: 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.
1996: Vincenzo Silani; S Bernasconi; Antonio Pizzuti; A Sampietro; Guglielmo Scarlato
Human substantia nigra in vitro as a bioassay for neurotrophic molecules of clinical significance.
Advances in neurology 1996;69():253-62.
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: 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: 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: Antonio Pizzuti; A Colosimo; Antonia Ratti; Francesca Capon; Massimo Gennarelli; Vincenzo Silani; C Ghezzi; S Lo Cicero; Giuseppe Calabrese; Giandomenico Palka
Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.
Biochemical and biophysical research communications 1995;206(1):294-301.
1995: Vincenzo Silani; S Bernasconi; Antonio Pizzuti; A Sampietro; A Brioschi; M Buscaglia; Guglielmo Scarlato
Molecules with neurotrophic effects on the human developing mesencephalic dopaminergic neurons.
Journal of neural transmission. Supplementum 1995;45():287-96.
1994: Vincenzo Silani; Gian Domenico Borasio; Feng C Zhou; S Bernasconi; Antonio Pizzuti; A Sampietro; Guglielmo Scarlato
NGF-response of EGF-dependent progenitor cells obtained from human sympathetic ganglia.
Neuroreport 1994;5(16):2085-9.
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: Antonio Pizzuti; D L Friedman; CT Caskey
The myotonic dystrophy gene.
Archives of neurology 1993;50(11):1173-9.
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: J B Redman; R G Fenwick; Y H Fu; Antonio Pizzuti; CT Caskey
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.
JAMA : the journal of the American Medical Association 1993;269(15):1960-5.
1993: Y H Fu; D L Friedman; S Richards; J A Pearlman; Richard A Gibbs; Antonio Pizzuti; Tetsuo Ashizawa; M Benjamin Perryman; G Scarlato; R G Fenwick
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.
Science (New York, N.Y.) 1993;260(5105):235-8.
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.
1992: Tetsuo Ashizawa; J R Dubel; P W Dunne; C J Dunne; Y H Fu; Antonio Pizzuti; CT Caskey; E Boerwinkle; M Benjamin Perryman; Henry F Epstein
Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat.
Neurology 1992;42(10):1877-83.
1992: Antonio Pizzuti; M Pieretti; R G Fenwick; Richard A Gibbs; CT Caskey
A transposon-like element in the deletion-prone region of the dystrophin gene.
Genomics 1992;13(3):594-600.
1992: CT Caskey; Antonio Pizzuti; Y H Fu; R G Fenwick; David L Nelson
Triplet repeat mutations in human disease.
Science (New York, N.Y.) 1992;256(5058):784-9.
1992: M W Kilimann; Antonio Pizzuti; Markus Grompe; CT Caskey
Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.
Human genetics 1992;89(3):253-8.
1992: Y H Fu; Antonio Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; Tetsuo Ashizawa; P de Jong
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
Science (New York, N.Y.) 1992;255(5049):1256-8.
1991: Y H Fu; D P Kuhl; Antonio Pizzuti; M Pieretti; James S Sutcliffe; S Richards; A J Verkerk; Jeanette J A Holden; R G Fenwick; Stephen Warren
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Cell 1991;67(6):1047-58.
1991: M C Edwards; P R Clemens; M Tristan; Antonio Pizzuti; Richard A Gibbs
Pentanucleotide repeat length polymorphism at the human CD4 locus.
Nucleic acids research 1991;19(17):4791.
1991: Vincenzo Silani; Antonio Pizzuti; Andrea Falini; Giuseppe Borsani; Elena I Rugarli; C A Melo; A Sidoli; F Villani; Francisco E Baralle; Guglielmo Scarlato
Beta-nerve growth factor (beta-NGF) mRNA expression in the parkinsonian adrenal gland.
Experimental neurology 1991;113(2):166-70.
1991: Andrea Falini; Vincenzo Silani; Antonio Pizzuti; Elena I Rugarli; D Mariani; R Bassani; A Vegeto; Francisco E Baralle; Guglielmo Scarlato
Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia.
Functional neurology 1991;6(3):259-61.
1991: Giuseppe Borsani; Antonio Pizzuti; Elena I Rugarli; Andrea Falini; Guglielmo Scarlato; Francisco E Baralle; Vincenzo Silani
Human fetal brain beta-nerve growth factor cDNA: molecular cloning of 5' and 3' untranslated regions.
Neuroscience letters 1991;127(1):117-20.
1991: A J Verkerk; M Pieretti; James S Sutcliffe; Y H Fu; D P Kuhl; Antonio Pizzuti; O Reiner; S Richards; M F Victoria; F P Zhang
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Cell 1991;65(5):905-14.
1991: Giuseppe Borsani; R Tonlorenzi; M C Simmler; L Dandolo; Danielle Arnaud; V Capra; Markus Grompe; Antonio Pizzuti; Donna M Muzny; C Lawrence; H F Willard; P Avner; A Ballabio
Characterization of a murine gene expressed from the inactive X chromosome.
Nature 1991;351(6324):325-9.
1990: Giuseppe Borsani; Antonio Pizzuti; Elena I Rugarli; Andrea Falini; Vincenzo Silani; A Sidoli; Guglielmo Scarlato; Francisco E Baralle
cDNA sequence of human beta-NGF.
Nucleic acids research 1990;18(13):4020.
1990: Antonio Pizzuti; Giuseppe Borsani; Andrea Falini; Elena I Rugarli; A Sidoli; Francisco E Baralle; Guglielmo Scarlato; Vincenzo Silani
Detection of beta-nerve growth factor mRNA in the human fetal brain.
Brain research 1990;518(1-2):337-41.
1990: Vincenzo Silani; Andrea Falini; O Strada; Antonio Pizzuti; Gianni Pezzoli; E D Motti; A Vegeto; Guglielmo Scarlato
Effect of nerve growth factor in adrenal autografts in parkinsonism.
Annals of neurology 1990;27(3):341-2.
1990: Gianni Pezzoli; E Motti; A Zecchinelli; C Ferrante; Vincenzo Silani; Andrea Falini; Antonio Pizzuti; D Mulazzi; P Baratta; A Vegeto
Adrenal medulla autograft in 3 parkinsonian patients: results using two different approaches.
Progress in brain research 1990;82():677-82.
1990: Vincenzo Silani; Antonio Pizzuti; M F Donato; Andrea Falini; R Bassani; O Strada; R I Causarano; D Mariani; R M Villani; Guglielmo Scarlato
Human neuronal cells in culture: from concepts to basic methodology.
Bollettino dell'Istituto sieroterapico milanese 1990;69(1):309-13.
1988: Vincenzo Silani; Antonio Pizzuti; O Strada; Andrea Falini; M Buscaglia; Guglielmo Scarlato
Human neuronal cell viability demonstrated in culture after cryopreservation.
Brain research 1988;473(1):169-74.
1988: Vincenzo Silani; Antonio Pizzuti; O Strada; Andrea Falini; Gianni Pezzoli; Guglielmo Scarlato
Cryopreservation of human fetal adrenal medullary cells.
Brain research 1988;454(1-2):383-6.
1988: Vincenzo Silani; Gianni Pezzoli; E Motti; Andrea Falini; Antonio Pizzuti; C Ferrante; A Zecchinelli; F Marossero; Guglielmo Scarlato
Primary cultures of human caudate nucleus.
Applied neurophysiology 1988;51(1):10-20.
1988: Vincenzo Silani; Gianni Pezzoli; E Motti; C Ferrante; Andrea Falini; Antonio Pizzuti; A Zecchinelli; M Moggio; M Buscaglia; G Scarlato
Characterization of purified populations of human fetal chromaffin cells: considerations for grafting in parkinsonian patients.
Progress in brain research 1988;78():551-7.