paolo gasparini
机构: IRCCS-Burlo Garofolo, UNiversity of TRieste
每年引用次数
引用次数
引用: 94,540
H-指数: 110
I10-指数 : 420
出版物: 882
Guidelines and recommendations for testing of CX26 mutations and interpretation of results
Manuela Mazzoli , Alessandra Murgia , Maria Bitner , Paulo Gasparini
Audiological Medicine 2 ( 2) 139 -140
2004
Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.
Pignatti Pf , Strukelj M , Komel R , Ravnik-Glavac M
Annales De Genetique 35 ( 2) 85 -88
1
1992
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.
Grimard D , Simard H , Lanzara C , Ficarella R
Haematologica 88 ( 7) 824 -826
62
2003
Cytogenetic and molecular analysis of trisomy 9. Case report and review.
Zelante L , Notarangelo A , Piemontese Mr , Croce Ai
Annales De Genetique 37 ( 1) 21 -25
2
1994
Exclusion of chromosome region 22q12.1-q12.3 as a second locus for Costello syndrome
Lapucci C , Cecchin S , Fabbri A , Gasparini P
Panminerva Medica 48 ( 2) 145 -146
1
2006
[Diagnosis of hereditary hemochromatosis with molecular analysis of DNA in patients with anti-HCV positive liver cirrhosis. Clinical case].
Gasparini P , Carella M , Carella Am , Bianco G
Minerva Medica 89 ( 9) 323 -327
1998
Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML.
Guerrasio A , G Martinelli , Achille Ambrosetti , M Falda
Haematologica 76 ( 2) 126 -130
2
1991
Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization.
Zelante L , Memeo E , Bisceglia L , Gasparini P
Annales De Genetique 40 ( 4) 227 -228
5
1997
Reply to "Comment on 'Operational Earthquake Forecasting: Status of Knowledge and Guidelines for Implementation by Jordan et al. [2011]' by Stuart Crampin"
Warner Marzocchi , Gerassimos Papadopoulos , Koshun Yamaoka , Raul Madariaga
Annals of Geophysics 55 ( 1)
1
2012
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24
Didier Dhermy , Ingrid Laurendeau , Michael Snyder , Pierre-Olivier Schischmanoff
Blood 96 ( 7) 2599 -2605
58
2000
Method and probes for the genetic diagnosis of hemochromatosis
Alberto Piperno , Friedrich Kury , Clara Camaschella , Villiers Nico De
2
2001
OPERATIONAL EARTHQUAKE FORECASTING. State of Knowledge and Guidelines for Utilization
Warner Marzocchi , Gerassimos Papadopoulos , Koshun Yamaoka , Raul Madariaga
Annals of Geophysics 54 ( 4) 315 -391
239
2011
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.
Xavier Testar , Xavier Estivill , María Julia Calonge , Alberto Ponzone
American Journal of Human Genetics 60 ( 3) 611 -616
84
1997
Molecular Genetics of Cystinuria: Identification of Four New Mutations and Seven Polymorphisms, and Evidence for Genetic Heterogeneity
Xavier Estivill , Leopoldo Zelante , Angelo Notarangelo , Alberto Ponzone
American Journal of Human Genetics 57 ( 4) 781 -788
81
1995
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
Xavier Estivill , Thilo Dörk , Teresa Casals , Roser Llevadot
American Journal of Human Genetics 55 ( 5) 890 -898
37
1994
Uncertainty in the Shale Gas Debate: Views From the Science–Policymaking Interface
Constantin Marius Profiroiu , Paolo Gasparini , Valentina Ivan
Transylvanian review of administrative sciences 11 ( 46) 144 -161
1
2015
Leigh syndrome transmitted by uniparental disomy of chromosome 9
Massimo Zeviani , Eleonora Lamantea , Valeria Tiranti , Mariano Rocchi
Journal of Medical Genetics 36 ( 12) 927 -928
26
1999
Molecular epidemiology of Usher syndrome in Italy.
Carmela Ziviello , Diego Vozzi , Danilo Licastro , Antonella Fabretto
Molecular Vision 17 1662 -1668
27
2011
Autosomal-dominant hemochrom-atosis is associated with a mutation in the ferroportin (SLC11A3) gene
Giuliana Montosi , Nancy C. Andrews , Stefano Cassanelli , Cinzia Garuti
Journal of Clinical Investigation 108 ( 4) 619 -623
471
2001
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
Domenico Girelli , Cristina Arosio , Alberto Piperno , Maurizio Sampietro
Hepatology 24 ( 1) 43 -46
75
1996
Xavier Estivill MD PhD Pio d'Adamo Antonella Roetto Nicola Pirastu Flavio Faletra achille iolascon Massimo Mezzavilla domenico girelli Raquel Rabionet diego vozzi maria pina concas Daniela Toniolo Dragana Vuckovic Antonio Zorzano Anna Morgan Giuseppe Novelli Dominique Bonneau Mario Cazzola Nuria Lopez-Bigas Mariano Rocchi