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Paolo Gasparini

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Italy

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Lisa S Nolan; Nicola Pirastu; David P Strachan; Barbara A Cadge; Adrian Davis; Russell Ecob; Paolo Gasparini; Giorgia Girotto; Irm Hermans-Borgmeyer; Christian Hübner; Hannes Maier; Sally J Dawson
Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice.
Flavio Faletra; Federico Fornasier; Francesca Furlan; Emmanouil Athanasakis; Xevi Biarnés; Arianna Boiani; Alberto Burlina; Carlo Dionisi Vici; Laura Giordano; Arianna Maiorana; Anna Morgan; Rossella Parini; Alessandro Ventura; Paolo Gasparini
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort.
Flavio Faletra; Paolo Gasparini; Show-Ling Shyng; Kara Snider; Charles A Stanley; Alessandro Ventura; Qing Zhou; Emmanouil Athanasakis; Irene Bruno; Carlo Dionisi Vici; Alberto Burlina
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

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All Publications

2013: Lisa S Nolan; Nicola Pirastu; David P Strachan; Barbara A Cadge; Adrian Davis; Russell Ecob; Paolo Gasparini; Giorgia Girotto; Irm Hermans-Borgmeyer; Christian Hübner; Hannes Maier; Sally J Dawson
Estrogen-related receptor gamma and hearing function: evidence of a role in humans and mice.
Neurobiology of aging 2013;34(8):2077.e1-9.
2013: Flavio Faletra; Federico Fornasier; Francesca Furlan; Emmanouil Athanasakis; Xevi Biarnés; Arianna Boiani; Alberto Burlina; Carlo Dionisi Vici; Laura Giordano; Arianna Maiorana; Anna Morgan; Rossella Parini; Alessandro Ventura; Paolo Gasparini
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort.
Gene 2013;521(1):160-5.
2013: Flavio Faletra; Paolo Gasparini; Show-Ling Shyng; Kara Snider; Charles A Stanley; Alessandro Ventura; Qing Zhou; Emmanouil Athanasakis; Irene Bruno; Carlo Dionisi Vici; Alberto Burlina
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
Gene 2013;516(1):122-5.
2013: Flavio Faletra; Stefano Pensiero; Emmanouil Athanasakis; Irene Bruno; Dario Catalano; Adamo Pio D'Adamo; Paolo Gasparini
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
Ophthalmic genetics 2013;34(1-2):115-7.
2013: Maria Santa Rocca; Raffaella Devescovi; Flavio Faletra; Paolo Gasparini; Vanna Pecile
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.
European journal of medical genetics 2013;56(1):62-5.
2012: Nicola Pirastu; Antonietta Robino; Beverly J Tepper; Emmanouil Athanasakis; Laura Esposito; Carmela Lanzara; Paolo Gasparini
Genetics of food preferences: a first view from silk road populations.
Journal of food science 2012;77(12):S413-8.
2012: Antonella Fabretto; Vanna Pecile; Maria Dolores Perrone; Aldo Skabar; Maria Santa Rocca; Paolo Gasparini
De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
American journal of medical genetics. Part A 2012;158A(4):882-7.
2012: Flavio Faletra; Marco Carrozzi; Adamo Pio D'Adamo; Vanna Pecile; Maria Dolores Perrone; Maria Santa Rocca; Paolo Gasparini
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.
American journal of medical genetics. Part A 2012;158A(2):461-4.
2012: Danilo Licastro; Margherita Mutarelli; Kornelia Neveling; Emmanouil Athanasakis; Sandro Banfi; Francesca D'Amico; Angela D'Eustacchio; Antonella Fabretto; Paolo Gasparini; Ivana Peluso; Mariateresa Pizzo; Rossella Rispoli; Hans Scheffer; Francesca Simonelli; Diego Vozzi; Nienke Wieskamp; Carmela Ziviello; Vincenzo Nigro
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
PloS one 2012;7(8):e43799.
2011: Grazia Paola Nicchia; Orazio Nicolotti; F Pisani; A Rossi; Maria Svelto; A Carotti; X Estivill; Romina Ficarella; Paolo Gasparini; I Giangreco; Antonio Frigeri
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.
Neuroscience 2011;197():80-8.
2011: Flavio Faletra; Federico Fornasier; Federico Marchetti; Federico Minen; Emmanouil Athanasakis; Paolo Gasparini
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
Ophthalmic genetics 2011;32(4):256-8.
2011: Valentino Bezzerri; Pio d'Adamo; Alessandro Rimessi; Carmen Lanzara; Sergio Crovella; ELENA NICOLIS; Anna Tamanini; Emmanouil Athanasakis; Maela Tebon; Giulia Bisoffi; Mitchell L Drumm; Michael R Knowles; Paolo Pinton; Paolo Gasparini; Giorgio Berton; Giulio Cabrini
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells.
Journal of immunology (Baltimore, Md. : 1950) 2011;186(8):4946-58.
2011: Flavio Faletra; Raffaella Devescovi; Vanna Pecile; Antonella Fabretto; Marco Carrozzi; Paolo Gasparini
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.
Journal of applied genetics 2011;52(1):77-80.
2011: Sergio Crovella; Ludovica Segat; Annalisa Amato; Emmanouil Athanasakis; Valentino Bezzerri; Cesare Braggion; Rosaria Casciaro; Giuseppe Castaldo; Carla Colombo; Angela Elvira Covone; Virginia De Rose; Rolando Gagliardini; Carmen Lanzara; Laura Minicucci; Marcello Morgutti; ELENA NICOLIS; Francesca Pardo; Serena Quattrucci; Valeria Raia; Roberto Ravazzolo; Manuela Seia; Valentino Stanzial; Lisa Termini; Laura Zazzeron; Giulio Cabrini; Paolo Gasparini
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2011;49(1):49-54.
2010: Stefano Bembich; Carmela Lanzara; A Clarici; Sergio Demarini; Beverly J Tepper; Paolo Gasparini; Domenico L Grasso
Individual differences in prefrontal cortex activity during perception of bitter taste using fNIRS methodology.
Chemical senses 2010;35(9):801-12.
2010: Cristina Zadro; Andrea Ciorba; Annalisa Fabris; Marcello Morgutti; Patrizia Trevisi; Paolo Gasparini; martini alessandro
Five new OTOF gene mutations and auditory neuropathy.
International journal of pediatric otorhinolaryngology 2010;74(5):494-8.
2010: Viviana Chinetti; Susanna Iossa; Gennaro Auletta; Carla Laria; M De Luca; Francesca Di Leva; Pasquale Riccardi; Pasquale Giannini; Paolo Gasparini; Alfredo Ciccodicola; Elio Marciano; Annamaria Franzè
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
International journal of audiology 2010;49(4):326-31.
2010: Pio D'Adamo; Sheila Ulivi; Amerigo Beneduci; Gabriele Pontoni; Giovambattista Capasso; Carmela Lanzara; Gilberto Andrighetto; Uros Hladnik; Virginia Nunes; Manuel Palacin; Paolo Gasparini
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.
Amino acids 2010;38(1):65-73.
2009: Elisa Bedin; Annamaria Franzè; Cristina Zadro; Maria Graziella Persico; Marina Ciullo; Uros Hladnik; Diego Dolcetta; Domenico Leonardo Grasso; Pasquale Riccardi; Teresa Nutile; Gilberto Andrighetto; Pio D'Adamo; Paolo Gasparini; Elio Marciano
Age-related hearing loss in four Italian genetic isolates: an epidemiological study.
International journal of audiology 2009;48(7):465-72.
2009: Michela Traglia; Cinzia Sala; Corrado Masciullo; Valeria Cverhova; Francesca Lori; Giorgio Pistis; Silvia Bione; Paolo Gasparini; Sheila Ulivi; Marina Ciullo; Teresa Nutile; Emanuele Bosi; Marcella Sirtori; Giovanna Mignogna; Alessandro Rubinacci; Iwan Buetti; Clara Camaschella; Enrico Petretto; Daniela Toniolo
Heritability and demographic analyses in the large isolated population of Val Borbera suggest advantages in mapping complex traits genes.
PloS one 2009;4(10):e7554.
2009: Cristina Zadro; Maria Stella Alemanno; Emanuele Bellacchio; Romina Ficarella; Francesca Donaudy; Salvatore Melchionda; Leopoldo Zelante; Raquel Rabionet; Nele Hilgert; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Massimo Carella
Are MYO1C and MYO1F associated with hearing loss?
Biochimica et biophysica acta 2009;1792(1):27-32.
2007: Romina Ficarella; Francesca Di Leva; Mario Bortolozzi; S Ortolano; Francesca Donaudy; Marco Petrillo; Salvatore Melchionda; Andrea Lelli; Teuta Domi; Laura Fedrizzi; D Lim; G E Shull; Paolo Gasparini; Marisa Brini; Fabio Mammano; Ernesto Carafoli
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(5):1516-21.
2006: Sharmila Fagoonee; Ferdinando Di Cunto; Diego Vozzi; Stefano Volinia; Maurizio Pellegrino; Paolo Gasparini; Lorenzo Silengo; Fiorella Altruda; Emanuela Tolosano
Microarray and large-scale in silico--based identification of genes functionally related to Haptoglobin and/or Hemopexin.
DNA and cell biology 2006;25(6):323-30.
2006: Ester Ballana; Estela Morales; Raquel Rabionet; Bàrbara Montserrat; Marina Ventayol; Olga Bravo; Paolo Gasparini; Xavier Estivill
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
Biochemical and biophysical research communications 2006;341(4):950-7.
2006: Francesca Donaudy; L Zheng; Romina Ficarella; Ester Ballana; Massimo Carella; Salvatore Melchionda; Xavier Estivill; J R Bartles; Paolo Gasparini
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Journal of medical genetics 2006;43(2):157-61.
2006: Francesca Di Leva; Pio D'Adamo; Maria Vittoria Cubellis; Angela D'Eustacchio; Monica Errichiello; Claudio Saulino; Gennaro Auletta; Pasquale Giannini; Francesca Donaudy; Alfredo Ciccodicola; Paolo Gasparini; Annamaria Franzè; Elio Marciano
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).
Audiology & neuro-otology 2006;11(3):157-64.
2005: Annamaria Franzé; Antonella Caravelli; Francesca Di Leva; Elio Marciano; Gennaro Auletta; Federica D'Aulos; Claudio Saulino; Laura Esposito; Massimo Carella; Paolo Gasparini
Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2005;262(11):921-4.
2005: Giangennaro Coppola; Chiara Criscuolo; Giuseppe De Michele; Salvatore Striano; Fabrizio Barbieri; Pasquale Striano; Anna Perretti; Lucio Santoro; Vincenzo Brescia Morra; Francesco Saccà; Valentina Scarano; Adamo P D'Adamo; Sandro Banfi; Paolo Gasparini; Filippo M Santorelli; Anna E Lehesjoki; Alessandro Filla
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Journal of neurology 2005;252(8):897-900.
2005: Howard T Jacobs; Tim Hutchin; Timo Käppi; Greta Gillies; Kia Minkkinen; John Walker; Karen Thompson; Anja T Rovio; Massimo Carella; Salvatore Melchionda; Leopoldo Zelante; Paolo Gasparini; Ilmari Pyykkö; Zahid Hussain Shah; Massimo Zeviani; Robert F Mueller
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
European journal of human genetics : EJHG 2005;13(1):26-33.
2004: Massimo Carella; Adamo Pio D'Adamo; Sabine Grootenboer-Mignot; Marie C Vantyghem; Laura Esposito; Angela D'Eustacchio; Romina Ficarella; Gordon W Stewart; Paolo Gasparini; Jean Delaunay; Achille Iolascon
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
European journal of human genetics : EJHG 2004;12(12):1073-6.
2004: Achille Iolascon; Stefano Volinia; Adriana Borriello; Lucia Giordani; Arcangela Moretti; Veronica Servedio; Nunzia Maiorano; Valeria Cucciolla; Vittoria Criniti; Paolo Gasparini; Stefania Indaco; Fulvio Della Ragione
Genes transcriptionally modulated by interferon alpha2a correlate with the cytokine activity.
Haematologica 2004;89(9):1046-53.
2004: Carmela Lanzara; Antonella Roetto; Filomena Daraio; Sylvain R Rivard; Romina Ficarella; Hervey Simard; Timothy M Cox; Mario Cazzola; Alberto Piperno; Anne-Paule Gimenez-Roqueplo; Paola Grammatico; Stefano Volinia; Paolo Gasparini; Clara Camaschella
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Blood 2004;103(11):4317-21.
2004: Annalisa Buniello; Donatella Montanaro; Stefano Volinia; Paolo Gasparini; Valeria Marigo
An expression atlas of connexin genes in the mouse.
Genomics 2004;83(5):812-20.
2004: Francesca Donaudy; Rikkert L Snoeckx; Markus Pfister; Hans-Peter Zenner; nikolaus blin; Mariateresa Di Stazio; Antonella Ferrara; Carmela Lanzara; Romina Ficarella; Frank Declau; Carsten M Pusch; Peter Nürnberg; Salvatore Melchionda; Leopoldo Zelante; Ester Ballana; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Anna Savoia
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
American journal of human genetics 2004;74(4):770-6.
2004: Antonella Roetto; Filomena Daraio; Paolo Porporato; Roberta Caruso; Timothy M Cox; Mario Cazzola; Paolo Gasparini; Alberto Piperno; Clara Camaschella
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).
Blood 2004;103(6):2407-9.
2004: Maria Muglia; Chiara Criscuolo; Angela Magariello; Giuseppe De Michele; Valentina Scarano; P D'Adamo; G Ambrosio; Anna Lia Gabriele; Alessandra Patitucci; Rosalucia Mazzei; Francesca Luisa Conforti; Teresa Sprovieri; Letterio Morgante; Antonio Epifanio; Paolino La Spina; Paola Valentino; Paolo Gasparini; Alessandro Filla; Aldo Quattrone
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Neurogenetics 2004;5(1):49-54.
2004: Chiara Criscuolo; Sandro Banfi; Marcello Orio; Paolo Gasparini; Antonella Monticelli; Valentina Scarano; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Giuseppe De Michele; Alessandro Filla
A novel mutation in SACS gene in a family from southern Italy.
Neurology 2004;62(1):100-2.
2003: Francesca Di Leva; Adamo Pio D'Adamo; Luiaino Strollo; Gennaro Auletta; Antonella Caravelli; Massimo Carella; Francesca Mari; Walter Livi; Alessandra Renieri; Paolo Gasparini; Michele D'Urso; Elio Marciano; Annamaria Franzé
Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.
International journal of audiology 2003;42(8):475-80.
2003: Ignacio del Castillo; Miguel A Moreno-Pelayo; Francisco del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa T Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics 2003;73(6):1452-8.
2003: Sylvain R Rivard; Carmela Lanzara; Doria Grimard; Massimo Carella; Hervey Simard; Romina Ficarella; Raynald Simard; Adamo Pio D'Adamo; Claude Férec; Clara Camaschella; GIANNI MURA; Antonella Roetto; Marc de Braekeleer; Lucien Bechner; Paolo Gasparini
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
European journal of human genetics : EJHG 2003;11(8):585-9.
2003: Massimo Carella; Stefano Volinia; Paolo Gasparini
Nanotechnologies and microchips in genetic diseases.
Journal of nephrology 2003;16(4):597-602.
2003: Sylvain R Rivard; Carmela Lanzara; Doria Grimard; Massimo Carella; Hervey Simard; Romina Ficarella; Raynald Simard; Adamo Pio D'Adamo; Marc de Braekeleer; Paolo Gasparini
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.
Haematologica 2003;88(7):824-6.
2003: Francesca Donaudy; Antonella Ferrara; Laura Esposito; Ronna Hertzano; Orit Ben-David; Rachel E Bell; Salvatore Melchionda; Leopoldo Zelante; Karen B Avraham; Paolo Gasparini
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
American journal of human genetics 2003;72(6):1571-7.
2003: Pio D'Adamo; Maura Pinna; Saverio Capobianco; Antonio Cesarani; Angela D'Eustacchio; Pina Fogu; Massimo Carella; Marco Seri; Paolo Gasparini
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.
Human genetics 2003;112(3):319-20.
2003: Pio D'Adamo; Francesca Donaudy; Angela D'Eustacchio; Enzo Di Iorio; Salvatore Melchionda; Paolo Gasparini
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.
European journal of human genetics : EJHG 2003;11(2):121-4.
2003: Giulio Piluso; Massimo Carella; Michele D'Avanzo; Raffaele Santinelli; Elena Maria Carrano; Angelo D'Avanzo; Adamo Pio D'Adamo; Paolo Gasparini; Vincenzo Nigro
Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
Human genetics 2003;112(2):124-30.
2003: Carmela Lanzara; Romina Ficarella; Angela Totaro; Xin Chen; Roberta Roberto; Silverio Perrotta; Carla Lasalandra; Paolo Gasparini; Achille Iolascon; Massimo Carella
Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes.
Blood cells, molecules & diseases 2003;30(1):22-9.
2002: Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Journal of the American Society of Nephrology : JASN 2002;13(10):2547-53.
2002: Paola D'Andrea; Valentina Veronesi; Massimiliano Bicego; Salvatore Melchionda; Leopoldo Zelante; Enzo Di Iorio; Roberto Bruzzone; Paolo Gasparini
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
Biochemical and biophysical research communications 2002;296(3):685-91.
2002: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2002;20(1):77-8.
2002: Marco De Gobbi; Antonella Roetto; Alberto Piperno; Raffaella Mariani; Federica Alberti; George Papanikolaou; Marianna Politou; Gillian Lockitch; Domenico Girelli; Silvia Fargion; Timothy M Cox; Paolo Gasparini; Mario Cazzola; Clara Camaschella
Natural history of juvenile haemochromatosis.
British journal of haematology 2002;117(4):973-9.
2002: Núria López-Bigas; Salvatore Melchionda; Paolo Gasparini; Alfonso Borragán; Maria L Arbonés; Xavier Estivill
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
Human mutation 2002;19(4):458.
2002: Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002;80(2):124-31.
2001: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2001;18(6):548.
2001: Salvatore Melchionda; Nadav Ahituv; Luigi Bisceglia; Tama Sobe; Fabian Glaser; Raquel Rabionet; Maria Lourdes Arbones; A Notarangelo; Enzo Di Iorio; Massimo Carella; Leopoldo Zelante; Xavier Estivill; Karen B Avraham; Paolo Gasparini
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
American journal of human genetics 2001;69(3):635-40.
2001: Giuliana Montosi; A Donovan; A Totaro; Cinzia Garuti; Elisa Pignatti; Stefano Cassanelli; Cameron C Trenor; Paolo Gasparini; Nancy C Andrews; Antonello Pietrangelo
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
The Journal of clinical investigation 2001;108(4):619-23.
2001: Antonella Roetto; Angela Totaro; Alberto Piperno; Antonio Piga; Filomena Longo; Giovanni Garozzo; Angelita Calì; Marco De Gobbi; Paolo Gasparini; Clara Camaschella
New mutations inactivating transferrin receptor 2 in hemochromatosis type 3.
Blood 2001;97(9):2555-60.
2001: Núria López-Bigas; Montse Olivé; Raquel Rabionet; Orit Ben-David; Juan Antonio Martínez-Matos; Olga Bravo; Isabel Banchs; Victor Volpini; Paolo Gasparini; Karen B Avraham; Isidro Ferrer; Maria L Arbonés; Xavier Estivill
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
Human molecular genetics 2001;10(9):947-52.
2001: Luigi Bisceglia; Jesús Purroy; Maite Jiménez-Vidal; A P d'Adamo; Ferran Rousaud; Ercole Beccia; R Penza; Gianfranco Rizzoni; Michele Gallucci; Manuel Palacín; Paolo Gasparini; Virginia Nunes; Leopoldo Zelante
Cystinuria type I: identification of eight new mutations in SLC3A1.
Kidney international 2001;59(4):1250-6.
2001: Mariona Font; Lidia Feliubadaló; X Estivill; Virginia Nunes; E Golomb; Y Kreiss; Elon Pras; Luigi Bisceglia; A P d'Adamo; Leopoldo Zelante; Paolo Gasparini; Maria Teresa Bassi; A L George ; Marta Manzoni; M Riboni; Andrea Ballabio; Giuseppe Borsani; Núria Reig; Esperanza Fernández; Antonio Zorzano; Joan Bertran; Manuel Palacín
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Human molecular genetics 2001;10(4):305-16.
2001: Laura Crisponi; Manila Deiana; A Loi; Francesca Chiappe; Manuela Uda; P Amati; Luigi Bisceglia; Leopoldo Zelante; Ramaiah Nagaraja; Susanna Porcu; Maria Serafina Ristaldi; R Marzella; Mariano Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; Alain Verloes; David Schlessinger; Paolo Gasparini; Dominique Bonneau; Antonio Cao; Giuseppe Pilia
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Nature genetics 2001;27(2):159-66.
2001: Luigi Greco; Marie-Claude Babron; G R Corazza; Selvaggia Percopo; R Sica; Fabienne Clot; MC Fulchignoni-Lataud; Patrizia Zavattari; Patricia Momigliano-Richiardi; Giorgio Casari; Paolo Gasparini; Roberto Tosi; V Mantovani; Stefano De Virgiliis; Giuseppe Iacono; A D'Alfonso; Hana Selinger-Leneman; Arnaud Lemainque; Jean-Louis Serre; Françoise Clerget-Darpoux
Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families.
Annals of human genetics 2001;65(Pt 1):35-41.
2000: Silverio Perrotta; Maria Domenica Cappellini; Francesco Bertoldo; Veronica Servedio; Giovanni Iolascon; Leonardo D'agruma; Paolo Gasparini; M C Siciliani; Achille Iolascon
Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background.
British journal of haematology 2000;111(2):461-6.
2000: Sabine Grootenboer; Pierre-Olivier Schischmanoff; Ingrid Laurendeau; Thérèse Cynober; Gil Tchernia; JP Dommergues; Didier Dhermy; M Bost; B Varet; M Snyder; S K Ballas; B Ducot; M C Babron; Gordon W Stewart; Paolo Gasparini; Achille Iolascon; Jean Delaunay
Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24.
Blood 2000;96(7):2599-605.
2000: Antonella Roetto; Federica Alberti; Filomena Daraio; A Cali; Mario Cazzola; Angela Totaro; Paolo Gasparini; Clara Camaschella
Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21.
Blood cells, molecules & diseases 2000;26(3):205-10.
2000: Clara Camaschella; Antonella Roetto; Angelita Calì; Marco De Gobbi; Giovanni Garozzo; Massimo Carella; N Majorano; Angela Totaro; Paolo Gasparini
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.
Nature genetics 2000;25(1):14-5.
2000: Achille Iolascon; Veronica Servedio; R Carbone; Angela Totaro; Massimo Carella; Silverio Perrotta; S N Wickramasinghe; Jean Delaunay; H Heimpel; Paolo Gasparini
Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?
Haematologica 2000;85(5):470-4.
2000: Raquel Rabionet; Leopoldo Zelante; Núria López-Bigas; L D'Agruma; Salvatore Melchionda; G Restagno; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
Human genetics 2000;106(1):40-4.
2000: Jesús Purroy; Luigi Bisceglia; J Jaeken; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR.
Human mutation 2000;15(4):373-9.
2000: Paolo Gasparini; Raquel Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; Andres Metspalu; Eneli Oitmaa; M Pisano; Paolo Fortina; Leopoldo Zelante; Xavier Estivill
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
European journal of human genetics : EJHG 2000;8(1):19-23.
1999: Alison T Merryweather-Clarke; Jennifer J Pointon; JD Shearman; Kathryn J H Robson; Anne-Marie Jouanolle; Annick Mosser; Véronique David; J Y Le Gall; Halsall David; Terence S Elsey; A Kelly; Timothy M Cox; M Clare; Adrian Bomford; J L Vandwalle; Jacques Rochette; Nicolas Borot; Hélène Coppin; Marie-Paule Roth; E Ryan; John Crowe; Angela Totaro; Paolo Gasparini; Antonella Roetto; Ann P Walker
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium.
Nature genetics 1999;23(3):271.
1999: Lidia Feliubadaló; Luigi Bisceglia; Mariona Font; Luca Dello Strologo; Ercole Beccia; M Arslan-Kirchner; B Steinmann; Leopoldo Zelante; X Estivill; Antonio Zorzano; Manuel Palacín; Paolo Gasparini; Virginia Nunes
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
Genomics 1999;60(3):362-5.
1999: Antonello Pietrangelo; Giuliana Montosi; A Totaro; Cinzia Garuti; Dario Conte; Stefano Cassanelli; Mirella Fraquelli; C Sardini; F Vasta; Paolo Gasparini
Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene.
The New England journal of medicine 1999;341(10):725-32.
1999: Anne Beauchamp-Nicoud; Pierre-Olivier Schischmanoff; Nicole Alloisio; P Boivin; S F Parsons; F Mielot; Gil Tchernia; A Legrand; Emanuele Miraglia del Giudice; Paolo Gasparini; Achille Iolascon; Sunitha N Wickramasinghe; Jean Delaunay
Suppression of CDA II expression in a homozygote.
British journal of haematology 1999;106(4):948-53.
1999: A Grifa; C A Wagner; L D'Ambrosio; Salvatore Melchionda; F Bernardi; N Lopez-Bigas; Raquel Rabionet; Maria Lourdes Arbones; M D Monica; Xavier Estivill; Leopoldo Zelante; F Lang; Paolo Gasparini
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Nature genetics 1999;23(1):16-8.
1999: Marco Seri; Salvatore Melchionda; S Dreyer; Monica Marini; Massimo Carella; Roberto Cusano; Maria Rosaria Piemontese; Francesco Caroli; Margherita Silengo; Leopoldo Zelante; Giovanni Romeo; Roberto Ravazzolo; Paolo Gasparini; B Lee
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.
International journal of molecular medicine 1999;4(3):285-90.
1999: Achille Iolascon; Gordon W Stewart; JF Ajetunmobi; Silverio Perrotta; Jean Delaunay; Massimo Carella; Leopoldo Zelante; Paolo Gasparini
Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).
Blood 1999;93(9):3120-3.
1999: Antonella Roetto; Angela Totaro; Mario Cazzola; M Cicilano; Sandra Bosio; G D'Ascola; Massimo Carella; Leopoldo Zelante; AL Kelly; Timothy M Cox; Paolo Gasparini; Clara Camaschella
Juvenile hemochromatosis locus maps to chromosome 1q.
American journal of human genetics 1999;64(5):1388-93.
1999: Paolo Gasparini; X Estivill; Paolo Fortina
Vestibular and hearing loss in genetic and metabolic disorders.
Current opinion in neurology 1999;12(1):35-9.
1999: Núria López-Bigas; Raquel Rabionet; Rafael de Cid; N Govea; Paolo Gasparini; Leopoldo Zelante; Maria L Arbonés; Xavier Estivill
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
Human mutation 1999;14(6):520-6.
1999: Paolo Gasparini; Eloisa Arbustini; Gabriella Restagno; L Zelante; P Stanziale; L Gatta; Luca Sbaiz; A M Sedita; N Banchieri; L Sapone; G C Fiorucci; E Brinson; E Shulse; Eric F Rappaport; Paolo Fortina
Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis.
Journal of medical screening 1999;6(2):67-9.
1998: Angela Totaro; A Grifa; Massimo Carella; JM Rommens; MA Valentino; Antonella Roetto; Leopoldo Zelante; Paolo Gasparini
Cloning of a new gene (FB19) within HLA class I region.
Biochemical and biophysical research communications 1998;250(3):555-7.
1998: A Grifa; Angela Totaro; JM Rommens; Massimo Carella; Antonella Roetto; L Borgato; Leopoldo Zelante; Paolo Gasparini
GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.
Biochemical and biophysical research communications 1998;250(2):240-5.
1998: Massimo Carella; G Stewart; JF Ajetunmobi; Silverio Perrotta; Sabine Grootenboer; Gil Tchernia; Jean Delaunay; Angela Totaro; Leopoldo Zelante; Paolo Gasparini; Achille Iolascon
Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).
American journal of human genetics 1998;63(3):810-6.
1998: Luigi Bisceglia; L D'Ambrosio; Maria Rosaria Piemontese; Massimo Carella; P Amati; Dominique Bonneau; Giuseppe Pilia; Paolo Gasparini; Leopoldo Zelante
Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.
Molecular and cellular probes 1998;12(4):255-8.
1998: Salvatore Melchionda; Marco Seri; Massimo Carella; Maria Rosaria Piemontese; X X Zhang; Leopoldo Zelante; Giovanni Romeo; Paolo Gasparini
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome.
European journal of human genetics : EJHG 1998;6(4):345-9.
1998: Alberto Piperno; Maurizio Sampietro; Antonello Pietrangelo; Cristina Arosio; L Lupica; Giuliana Montosi; Anna Vergani; Mirella Fraquelli; Domenico Girelli; P Pasquero; Antonella Roetto; Paolo Gasparini; Silvia Fargion; Dario Conte; Clara Camaschella
Heterogeneity of hemochromatosis in Italy.
Gastroenterology 1998;114(5):996-1002.
1998: Angela Totaro; Antonella Roetto; JM Rommens; A Grifa; Massimo Carella; Leonardo D'agruma; MA Valentino; L D'Ambrosio; M Cicilano; Clara Camaschella; B Franco; Paolo Gasparini
Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).
European journal of human genetics : EJHG 1998;6(2):105-13.
1998: Xavier Estivill; Paolo Fortina; Saul Surrey; Raquel Rabionet; Salvatore Melchionda; L D'Agruma; ES Mansfield; E Rappaport; N Govea; M Milà; Leopoldo Zelante; Paolo Gasparini
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Lancet 1998;351(9100):394-8.
1997: Achille Iolascon; Emanuele Miraglia del Giudice; Silverio Perrotta; M Granatiero; Leopoldo Zelante; Paolo Gasparini
Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).
Blood 1997;90(10):4197-200.
1997: Clara Camaschella; Antonella Roetto; M Cicilano; P Pasquero; Sandra Bosio; L Gubetta; F Di Vito; Domenico Girelli; Angela Totaro; Massimo Carella; A Grifa; Paolo Gasparini
Juvenile and adult hemochromatosis are distinct genetic disorders.
European journal of human genetics : EJHG 1997;5(6):371-5.
1997: Paolo Gasparini; Emanuele Miraglia del Giudice; Jean Delaunay; Angela Totaro; M Granatiero; Salvatore Melchionda; Leopoldo Zelante; Achille Iolascon
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.
American journal of human genetics 1997;61(5):1112-6.
1997: Leopoldo Zelante; Paolo Gasparini; Xavier Estivill; Salvatore Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; ES Mansfield; Kathleen Delgrosso; E Rappaport; Saul Surrey; Paolo Fortina
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
Human molecular genetics 1997;6(9):1605-9.
1997: Antonella Roetto; M Cicilano; Enrico Gottardi; Angela Totaro; Massimo Carella; Paolo Gasparini; Clara Camaschella
A frequent polymorphism in the 5' region of the BCMA gene.
Molecular and cellular probes 1997;11(4):311-2.
1997: S Calvano; E Memeo; Maria Rosaria Piemontese; Salvatore Melchionda; Luigi Bisceglia; Paolo Gasparini; Leopoldo Zelante
Detection of dystrophin deletion carriers using FISH analysis.
Clinical genetics 1997;52(1):17-22.
1997: Angela Totaro; A Grifa; Massimo Carella; L D'Ambrosio; M Valentino; Marie-Paule Roth; Nicolas Borot; Hélène Coppin; Antonella Roetto; Clara Camaschella; Paolo Gasparini
Hereditary hemochromatosis: a HpaI polymorphism within the HLA-H gene.
Molecular and cellular probes 1997;11(3):229-30.
1997: Maria Rosaria Piemontese; E Memeo; Massimo Carella; P Amati; J C Chomel; Dominique Bonneau; Giuseppe Pilia; Antonio Cao; Harry A Drabkin; Robert M Gemmill; JM Rommens; Leopoldo Zelante; Paolo Gasparini; Luigi Bisceglia
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
European journal of human genetics : EJHG 1997;5(3):171-4.
1997: Massimo Carella; L D'Ambrosio; Angela Totaro; A Grifa; MA Valentino; Alberto Piperno; Domenico Girelli; Antonella Roetto; B Franco; Paolo Gasparini; Clara Camaschella
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.
American journal of human genetics 1997;60(4):828-32.
1997: Paolo Gasparini; Xavier Estivill; V Volpini; A Totaro; S Castellvi-Bel; N Govea; M Mila; M Della Monica; V Ventruto; M De Benedetto; P Stanziale; Leopoldo Zelante; ES Mansfield; L Sandkuijl; Saul Surrey; Paolo Fortina
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
European journal of human genetics : EJHG 1997;5(2):83-8.
1997: Luigi Bisceglia; M J Calonge; Angela Totaro; Lidia Feliubadaló; Salvatore Melchionda; J García; Xavier Testar; Michele Gallucci; Alberto Ponzone; Leopoldo Zelante; Antonio Zorzano; X Estivill; Paolo Gasparini; Virginia Nunes; Manuel Palacín
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.
American journal of human genetics 1997;60(3):611-6.
1997: Paolo Gasparini; S Calvano; E Memeo; Luigi Bisceglia; Leopoldo Zelante
Assignment of ferritin L gene (FTL) to human chromosome band 19q13.3 by in situ hybridization.
Annales de génétique 1997;40(4):227-8.
1997: Antonella Roetto; Luca Sbaiz; Sandra Bosio; Alberto Piperno; Silvia Fargion; Massimo Carella; Angela Totaro; A Grifa; Paolo Gasparini; Clara Camaschella
A recombination event close to HFE gene in hereditary hemochromatosis.
Annales de génétique 1997;40(3):150-3.
1997: Leopoldo Zelante; B Dallapiccola; S Calvano; E Memeo; Paolo Gasparini; P Simi; S Rossi; Palma Finelli; M Rocchi; Nicoletta Archidiacono
Two mosaic-YY males carrying asymmetric Y chromosomes.
Clinical genetics 1997;51(1):65-8.
1996: A Grifa; Angela Totaro; Massimo Carella; L D'Ambrosio; Luca Sbaiz; Antonella Roetto; Clara Camaschella; Paolo Gasparini
Two polymorphic repeats in the candidate region for the haemochromatosis gene.
Molecular and cellular probes 1996;10(6):469-70.
1996: J Purroy; Luigi Bisceglia; M J Calonge; Leopoldo Zelante; Xavier Testar; Antonio Zorzano; Xavier Estivill; Manuel Palacín; Virginia Nunes; Paolo Gasparini
Genomic structure and organization of the human rBAT gene (SLC3A1).
Genomics 1996;37(2):249-52.
1996: Luigi Bisceglia; M J Calonge; Luca Dello Strologo; Gianfranco Rizzoni; Luisa de Sanctis; M Gallucci; E Beccia; Xavier Testar; Antonio Zorzano; Xavier Estivill; Leopoldo Zelante; M Palacin; Paolo Gasparini; Virginia Nunes
Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism.
Human genetics 1996;98(4):447-51.
1996: Alberto Piperno; Cristina Arosio; Silvia Fargion; Antonella Roetto; C Nicoli; Domenico Girelli; Luca Sbaiz; Paolo Gasparini; G Boari; Maurizio Sampietro; Clara Camaschella
The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients.
Hepatology (Baltimore, Md.) 1996;24(1):43-6.
1996: P Amati; Paolo Gasparini; J Zlotogora; Leopoldo Zelante; Jean-Claude Chomel; Alain Kitzis; J Kaplan; Dominique Bonneau
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.
American journal of human genetics 1996;58(5):1089-92.
1996: Paolo Gasparini; L D'Agruma; G Pio de Cillis; P Balestrazzi; R Mingarelli; Leopoldo Zelante
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
Human genetics 1996;97(4):492-5.
1996: Clara Camaschella; Antonella Roetto; Paolo Gasparini; Alberto Piperno; Paolo Fortina; S Surrey; E Rappaport
Allelic association of microsatellites of 6p in Italian hemochromatosis patients.
Human genetics 1996;97(4):476-81.
1996: Angela Totaro; JM Rommens; A Grifa; C Lunardi; Massimo Carella; J J Huizenga; Antonella Roetto; Clara Camaschella; G De Sandre; Paolo Gasparini
Hereditary hemochromatosis: generation of a transcription map within a refined and extended map of the HLA class I region.
Genomics 1996;31(3):319-26.
1995: Domenico Girelli; Roberto Corrocher; Luigi Bisceglia; Oliviero Olivieri; Lucia De Franceschi; Leopoldo Zelante; Paolo Gasparini
Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
Blood 1995;86(11):4050-3.
1995: Silvia Anna Ciafrè; Monica Rinaldi; Paolo Gasparini; Davide Seripa; Luigi Bisceglia; L Zelante; Maria Giulia Farace; Vito Michele Fazio
Stability and functional effectiveness of phosphorothioate modified duplex DNA and synthetic 'mini-genes'.
Nucleic acids research 1995;23(20):4134-42.
1995: Paolo Gasparini; M J Calonge; Luigi Bisceglia; J Purroy; Irma Dianzani; A Notarangelo; F Rousaud; M Gallucci; Xavier Testar; Alberto Ponzone
Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.
American journal of human genetics 1995;57(4):781-8.
1995: M J Calonge; marga nadal; S Calvano; Xavier Testar; Leopoldo Zelante; Antonio Zorzano; Xavier Estivill; Paolo Gasparini; Manuel Palacín; Virginia Nunes
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.
Human genetics 1995;95(6):633-6.
1995: Sergio Giannattasio; Luigi Bisceglia; P Lattanzio; A Grifa; Irma Dianzani; Paolo Gasparini; Ersilia Marra
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model.
Molecular and cellular probes 1995;9(3):201-5.
1995: Angela Totaro; A Grifa; Antonella Roetto; C Lunardi; L D'Agruma; Luca Sbaiz; Leopoldo Zelante; G De Sandre; Clara Camaschella; Paolo Gasparini
New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE).
Human genetics 1995;95(4):429-34.
1995: C Marigo; Cristina Bombieri; Luigi Bisceglia; Leopoldo Zelante; Paolo Gasparini; Pier Franco Pignatti
Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.
Molecular and cellular probes 1995;9(2):139-41.
1994: Paolo Gasparini; A Grifa; S Savasta; I Merlo; Luigi Bisceglia; Angela Totaro; Leopoldo Zelante
The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome.
Human genetics 1994;94(6):671-4.
1994: Angela Totaro; A Grifa; Antonella Roetto; Leopoldo Zelante; Clara Camaschella; Paolo Gasparini
A new complex polymorphic repeat close to the HLA-A and HLA-E loci.
Human genetics 1994;94(5):578.
1994: N Morral; R Llevadot; Teresa Casals; Paolo Gasparini; Milan Macek Jr.; Thilo Dörk; Xavier Estivill
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
American journal of human genetics 1994;55(5):890-8.
1994: M J Calonge; Paolo Gasparini; J Chillarón; M Chillón; M Gallucci; F Rousaud; Leopoldo Zelante; Xavier Testar; B Dallapiccola; F Di Silverio
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
Nature genetics 1994;6(4):420-5.
1994: Leopoldo Zelante; A Notarangelo; A I Croce; Maria Rosaria Piemontese; Paolo Gasparini
Cytogenetic and molecular analysis of trisomy 9. Case report and review.
Annales de génétique 1994;37(1):21-5.
1994: Clara Camaschella; Paolo Gasparini
Hunting the hemochromatosis gene: progress and problems.
European journal of human genetics : EJHG 1994;2(3):141-7.
1994: Luigi Bisceglia; A Grifa; Leopoldo Zelante; Paolo Gasparini
Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations.
Human mutation 1994;4(2):136-40.
1993: G Borgo; Paolo Gasparini; Alberto Bonizzato; Giulio Cabrini; G Mastella; Pier Franco Pignatti
Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.
European journal of pediatrics 1993;152(12):1006-11.
1993: Paolo Gasparini; A Grifa; P Origone; D Coviello; R Antonacci; M Rocchi
Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.
Molecular and cellular probes 1993;7(5):415-8.
1993: Clara Camaschella; Antonella Roetto; G De Sandre; Alberto Piperno; Angela Totaro; Irma Dianzani; Paolo Gasparini
Construction of a genetic map telomeric to HLA-A by microsatellite analysis.
Molecular and cellular probes 1993;7(5):411-4.
1993: Elisabetta Trabetti; R Galavotti; L Zanini; E Zardini; N Zatti; F Bernardi; A Notarangelo; A I Croce; Pier Franco Pignatti; Paolo Gasparini
The parental origin of hydatidiform moles and blighted ova: molecular probing with hypervariable DNA polymorphisms.
Molecular and cellular probes 1993;7(4):325-9.
1993: Paolo Gasparini; L Borgato; Alberto Piperno; Domenico Girelli; O Olivieri; Enrico Gottardi; Antonella Roetto; Irma Dianzani; Silvia Fargion; G Schinaia
Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F.
Human molecular genetics 1993;2(5):571-6.
1993: Paolo Gasparini; Alberto Bonizzato; Angela Totaro; Leopoldo Zelante
Identification of a new DNA polymorphism tightly linked to DQ-alpha locus.
Experimental and clinical immunogenetics 1993;10(3):176-8.
1993: Paolo Gasparini; C Marigo; Luigi Bisceglia; ELENA NICOLIS; Leopoldo Zelante; Cristina Bombieri; G Borgo; Pier Franco Pignatti; Giulio Cabrini
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
Human mutation 1993;2(5):389-94.
1992: Paolo Gasparini; G Borgo; G Mastella; Alberto Bonizzato; M Dognini; Pier Franco Pignatti
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
Journal of medical genetics 1992;29(8):558-62.
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: giovanni martinelli; A Chiamenti; Paolo Gasparini; Pier Franco Pignatti; A Ambrosetti; Alfonso Zaccaria; M Buzzi; Nicoletta Testoni; S Tura; A Guerrasio
BCR breakpoint subregions and blast crisis lineage in CML patients.
Blood 1992;79(3):838-9.
1992: Paolo Gasparini; Alberto Bonizzato; M Dognini; Pier Franco Pignatti
Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations.
Molecular and cellular probes 1992;6(1):1-7.
1992: Alberto Bonizzato; ELENA NICOLIS; Paolo Gasparini
Identification of a new splicing mutation (406-1 G-C) in the CFTR gene.
Human mutation 1992;1(5):432-3.
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: Paolo Gasparini; Virginia Nunes; M Dognini; Xavier Estivill
High conservation of sequences involved in cystic fibrosis mutations in five mammalian species.
Genomics 1991;10(4):1070-2.
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; M Dognini; Alberto Bonizzato; Pier Franco Pignatti; N Morral; Xavier Estivill
A tetranucleotide repeat polymorphism in the cystic fibrosis gene.
Human genetics 1991;86(6):625.
1991: Angelo Guerrasio; giovanni martinelli; Achille Ambrosetti; Michele Falda; F Paolino; G Rege-Cambrin; C Rosso; P F Pignatti; Paolo Gasparini; G Perona
Different suppression of Ph1 positive hemopoiesis induced by intensive chemotherapy in lymphoid and myeloid blast crisis of CML.
Haematologica 1991;76(2):126-30.
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: giovanni martinelli; Mario Sessarego; Paolo Gasparini; Achille Ambrosetti; F Frassoni; A M Chiamenti; Pier Franco Pignatti
An assessment of chimeric transcript detection in CML patients after bone marrow transplantation.
Bone marrow transplantation 1991;7 Suppl 2():21.
1991: Paolo Gasparini
Genetics of cystic fibrosis.
Digestive diseases (Basel, Switzerland) 1991;9(3):179-88.
1990: G Borgo; G Mastella; Paolo Gasparini; A Zorzanello; R Doro; Pier Franco Pignatti
Pancreatic function and gene deletion F508 in cystic fibrosis.
Journal of medical genetics 1990;27(11):665-9.
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: M Ferrari; M Antonelli; F Bellini; G Borgo; O Castiglione; L Curcio; B Dallapiccola; Marcella Devoto; X Estivill; Paolo Gasparini
Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study.
Human genetics 1990;84(5):435-8.
1990: Paolo Gasparini; A Savoia; Maurizio Luisetti; V Peona; Pier Franco Pignatti
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease.
American journal of respiratory cell and molecular biology 1990;2(3):297-9.
1990: Paolo Gasparini; Elisabetta Trabetti; A Savoia; Mario Marigo; Pier Franco Pignatti
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorphisms in the Italian population.
Human heredity 1990;40(2):61-8.
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: Paolo Gasparini; G Martinelli; Elisabetta Trabetti; A Ambrosetti; F Benedetti; Pier Franco Pignatti
Bone marrow transplantation monitoring by DNA analysis.
Bone marrow transplantation 1989;4 Suppl 4():157-9.
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.