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Irma Dianzani
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24
Ramenghi, Ugo
23
Ponzone, Alberto
17
Garelli, Emanuela
12
de Sanctis, Luisa
11
Camaschella, Clara
10
Dianzani, Umberto
8
Carando, Adriana
8
Giannattasio, Sergio
7
Spada, Marco
7
Dahl, Niklas
6
Campagnoli, Maria Francesca
6
Chiocchetti, Annalisa
6
Gustavsson, Peter
6
Loreni, Fabrizio
6
Santoro, Claudio
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All Publications
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2009: Ferretti Massimo; Gattorno Marco; Chiocchetti Annalisa; Mesturini Riccardo; Orilieri Elisabetta; Bensi Thea; Sormani Maria Pia; Cappellano Giuseppe; Cerutti Elisa; Nicola Stefania; Biava Alessandra; Bardelli Claudio; Federici Silvia; Ceccherini Isabella; Baldi Maurizia; Santoro Claudio; Dianzani Irma; Martini Alberto; Dianzani Umberto
The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever.
Arthritis and rheumatism 2009;60(11):3476-84.
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2009: Pavesi Elisa; Avondo Federica; Aspesi Anna; Quarello Paola; Rocci Alberto; Vimercati Chiara; Pigullo Simona; Dufour Carlo; Ramenghi Ugo; Dianzani Irma
Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.
Pediatric blood & cancer 2009;53(3):411-6.
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2009: Betti Marta; Neri Monica; Ferrante Daniela; Landi Stefano; Biava Alessandra; Gemignani Federica; Bertolotti Marinella; Mirabelli Dario; Padoan Marina; Ugolini Donatella; Botta Mario; Bonassi Stefano; Magnani Corrado; Dianzani Irma
Pooled analysis of NAT2 genotypes as risk factors for asbestos-related malignant mesothelioma.
International journal of hygiene and environmental health 2009;212(3):322-9.
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2009: Avondo Federica; Roncaglia Paola; Crescenzio Nicoletta; Krmac Helena; Garelli Emanuela; Armiraglio Marta; Castagnoli Carlotta; Campagnoli Maria Francesca; Ramenghi Ugo; Gustincich Stefano; Santoro Claudio; Dianzani Irma
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
BMC genomics 2009;10():442.
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2008: Dianzani Irma; Loreni Fabrizio
Diamond-Blackfan anemia: a ribosomal puzzle.
Haematologica 2008;93(11):1601-4.
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2008: Quarello Paola; Garelli Emanuela; Brusco Alfredo; Carando Adriana; Pappi Patrizia; Barberis Marco; Coletti Valentina; Campagnoli Maria Francesca; Dianzani Irma; Ramenghi Ugo
Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency.
Haematologica 2008;93(11):1748-50.
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2008: Boria Ilenia; Quarello Paola; Avondo Federica; Garelli Emanuela; Aspesi Anna; Carando Adriana; Campagnoli Maria Francesca; Dianzani Irma; Ramenghi Ugo
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Human mutation 2008;29(11):E263-70.
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2008: Campagnoli Maria Francesca; Ramenghi Ugo; Armiraglio Marta; Quarello Paola; Garelli Emanuela; Carando Adriana; Avondo Federica; Pavesi Elisa; Fribourg Sébastien; Gleizes Pierre-Emmanuel; Loreni Fabrizio; Dianzani Irma
RPS19 mutations in patients with Diamond-Blackfan anemia.
Human mutation 2008;29(7):911-20.
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2007: Angelini Mara; Cannata Stefano; Mercaldo Valentina; Gibello Luisa; Santoro Claudio; Dianzani Irma; Loreni Fabrizio
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Human molecular genetics 2007;16(14):1720-7.
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2007: Orrù Stefania; Aspesi Anna; Armiraglio Marta; Caterino Marianna; Loreni Fabrizio; Ruoppolo Margherita; Santoro Claudio; Dianzani Irma
Analysis of the ribosomal protein S19 interactome.
Molecular & cellular proteomics : MCP 2007;6(3):382-93.
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2006: Sorasio L; Ferrero G B; Garelli E; Brunello G; Martano C; Carando A; Belligni E; Dianzani I; Cirillo Silengo M
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome.
European journal of medical genetics 2006;49(6):520-2.
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2006: Clementi Rita; Chiocchetti Annalisa; Cappellano Giuseppe; Cerutti Elisa; Ferretti Massimo; Orilieri Elisabetta; Dianzani Irma; Ferrarini Marina; Bregni Marco; Danesino Cesare; Bozzi Valeria; Putti Maria Caterina; Cerutti Franco; Cometa Angela; Locatelli Franco; Maccario Rita; Ramenghi Ugo; Dianzani Umberto
Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.
Blood 2006;108(9):3079-84.
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2006: Dianzani I; Gibello L; Biava A; Giordano M; Bertolotti M; Betti M; Ferrante D; Guarrera S; Betta G P; Mirabelli D; Matullo G; Magnani C
Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study.
Mutation research 2006;599(1-2):124-34.
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2006: Campagnoli M F; Pucci A; Garelli E; Carando A; Defilippi C; Lala R; Ingrosso G; Dianzani I; Forni M; Ramenghi U
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.
Journal of clinical pathology 2006;59(4):440-2.
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2005: Chiocchetti Annalisa; Gibello Luisa; Carando Adriana; Aspesi Anna; Secco Paola; Garelli Emanuela; Loreni Fabrizio; Angelini Mara; Biava Alessandra; Dahl Niklas; Dianzani Umberto; Ramenghi Ugo; Santoro Claudio; Dianzani Irma
Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.
Haematologica 2005;90(11):1453-62.
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2004: Chatr-Aryamontri Andrew; Angelini Mara; Garelli Emanuela; Tchernia Gil; Ramenghi Ugo; Dianzani Irma; Loreni Fabrizio
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
Human mutation 2004;24(6):526-33.
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2004: de Sanctis Luisa; Corrias Andrea; Romagnolo Damiano; Di Palma Tina; Biava Alessandra; Borgarello Gabriella; Gianino Paola; Silvestro Leandra; Zannini Mariastella; Dianzani Irma
Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.
The Journal of clinical endocrinology and metabolism 2004;89(11):5669-74.
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2004: Clementi Rita; Dagna Lorenzo; Dianzani Umberto; Dupré Loïc; Dianzani Irma; Ponzoni Maurilio; Cometa Angela; Chiocchetti Annalisa; Sabbadini Maria Grazia; Rugarli Claudio; Ciceri Fabio; Maccario Rita; Locatelli Franco; Danesino Cesare; Ferrarini Marina; Bregni Marco
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
The New England journal of medicine 2004;351(14):1419-24.
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2004: Ponzone Alberto; Spada Marco; Ferraris Silvio; Dianzani Irma; de Sanctis Luisa
Dihydropteridine reductase deficiency in man: from biology to treatment.
Medicinal research reviews 2004;24(2):127-50.
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2004: Chiocchetti Annalisa; Indelicato Manuela; Bensi Thea; Mesturini Riccardo; Giordano Mara; Sametti Selina; Castelli Luca; Bottarel Flavia; Mazzarino Maria Clorinda; Garbarini Letizia; Giacopelli Francesca; Valesini Guido; Santoro Claudio; Dianzani Irma; Ramenghi Ugo; Dianzani Umberto
High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation.
Blood 2004;103(4):1376-82.
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2003: Dianzani I; Garelli E; Gustavsson P; Carando A; Gustafsson B; Dahl N; Annerén G
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
Journal of medical genetics 2003;40(12):e133.
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2003: Dianzani I; Gibello L; Biava A; Tamiazzo S; Bertolotti M; Mirabelli D; Magnani C
[Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure]
Pathologica 2003;95(5):298-9.
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2003: Bona G; Defranco S; Chiocchetti A; Indelicato M; Biava A; Difranco D; Dianzani I; Ramenghi U; Corrias A; Weber G; De Sanctis V; Iughetti L; Radetti G; Dianzani U
Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases.
Clinical and experimental immunology 2003;133(3):430-7.
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2003: De Sanctis Luisa; Romagnolo Damiano; Olivero Martina; Buzi Fabio; Maghnie Mohamad; Scirè Giuseppe; Crino Antonio; Baroncelli Giampiero Igli; Salerno Mariacarolina; Di Maio Salvatore; Cappa Marco; Grosso Salvatore; Rigon Franco; Lala Roberto; De Sanctis Carlo; Dianzani Irma
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
Pediatric research 2003;53(5):749-55.
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2001: de Sanctis L; Bonetti G; Bruno M; De Luca F; Bisceglia L; Palacin M; Dianzani I; Ponzone A
Cystinuria phenotyping by oral lysine and arginine loading.
Clinical nephrology 2001;56(6):467-74.
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2001: Bottarel F; Bonissoni S; Lucia M B; Bragardo M; Bensi T; Buonfiglio D; Mezzatesta C; DiFranco D; Balotta C; Capobianchi M R; Dianzani I; Cauda R; Dianzani U
Decreased function of Fas in patients displaying delayed progression of HIV-induced immune deficiency.
The hematology journal : the official journal of the European Haematology Association / EHA 2001;2(4):220-7.
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2001: Giannattasio S; Dianzani I; Lattanzio P; Spada M; Romano V; Calì F; Andria G; Ponzone A; Marra E; Piazza A
Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.
Human heredity 2001;52(3):154-9.
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2000: Ramenghi U; Campagnoli M F; Garelli E; Carando A; Brusco A; Bagnara G P; Strippoli P; Izzi G C; Brandalise S; Riccardi R; Dianzani I
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
Blood cells, molecules & diseases 2000;26(5):417-22.
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2000: Dianzani I; Garelli E; Ramenghi U
Diamond-Blackfan Anaemia: an overview.
Paediatric drugs 2000;2(5):345-55.
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2000: Pignata C; Alessio M; Ramenghi U; Bonissoni S; Difranco D; Brusco A; Matrecano E; Franzese A; Dianzani I; Dianzani U
Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children.
Clinical and experimental immunology 2000;121(1):53-8.
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2000: de Sanctis L; Alliaudi C; Spada M; Farrugia R; Cerone R; Biasucci G; Meli C; Zammarchi E; Coskun T; Blau N; Ponzone A; Dianzani I
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
Journal of inherited metabolic disease 2000;23(4):333-7.
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2000: Ramenghi U; Bonissoni S; Migliaretti G; DeFranco S; Bottarel F; Gambaruto C; DiFranco D; Priori R; Conti F; Dianzani I; Valesini G; Merletti F; Dianzani U
Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer.
Blood 2000;95(10):3176-82.
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2000: Sperandeo M P; Bassi M T; Riboni M; Parenti G; Buoninconti A; Manzoni M; Incerti B; Larocca M R; Di Rocco M; Strisciuglio P; Dianzani I; Parini R; Candito M; Endo F; Ballabio A; Andria G; Sebastio G; Borsani G
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
American journal of human genetics 2000;66(1):92-9.
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1999: Dianzani I; Cotton R G; Camaschella C; Ponzone A; Piazza A; Landegren U
Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.
European journal of human genetics : EJHG 1999;7(8):941-3.
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1999: Willig T N; Draptchinskaia N; Dianzani I; Ball S; Niemeyer C; Ramenghi U; Orfali K; Gustavsson P; Garelli E; Brusco A; Tiemann C; Pérignon J L; Bouchier C; Cicchiello L; Dahl N; Mohandas N; Tchernia G
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.
Blood 1999;94(12):4294-306.
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1999: Ramenghi U; Garelli E; Valtolina S; Campagnoli M F; Timeus F; Crescenzio N; Mair M; Varotto S; D'Avanzo M; Nobili B; Massolo F; Mori P G; Locatelli F; Gustavsson P; Dahl N; Dianzani I
Diamond-Blackfan anaemia in the Italian population.
British journal of haematology 1999;104(4):841-8.
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1999: Draptchinskaia N; Gustavsson P; Andersson B; Pettersson M; Willig T N; Dianzani I; Ball S; Tchernia G; Klar J; Matsson H; Tentler D; Mohandas N; Carlsson B; Dahl N
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Nature genetics 1999;21(2):169-75.
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1999: Dianzani I; Landegren U; Camaschella C; Ponzone A; Piazza A; Cotton R G
Fifth International Mutation Detection Workshop, May 13-16, 1999, Vicoforte, Italy.
Human mutation 1999;14(6):451-3.
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1999: Smooker P M; Gough T J; Cotton R G; Alliaudi C; de Sanctis L; Dianzani I
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.
Human mutation 1999;13(6):503-4.
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1998: Gustavsson P; Garelli E; Draptchinskaia N; Ball S; Willig T N; Tentler D; Dianzani I; Punnett H H; Shafer F E; Cario H; Ramenghi U; Glomstein A; Pfeiffer R A; Goringe A; Olivieri N F; Smibert E; Tchernia G; Elinder G; Dahl N
Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.
American journal of human genetics 1998;63(5):1388-95.
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1998: Guldberg P; Rey F; Zschocke J; Romano V; François B; Michiels L; Ullrich K; Hoffmann G F; Burgard P; Schmidt H; Meli C; Riva E; Dianzani I; Ponzone A; Rey J; Güttler F
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.
American journal of human genetics 1998;63(1):71-9.
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1998: Spada M; Dianzani I; Bonetti G; Biondi A; Leone L; Giannattasio S; Ponzone A
Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: influence of different phenylalanine hydroxylase mutations.
Journal of inherited metabolic disease 1998;21(3):236-9.
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1998: Dianzani I; de Sanctis L; Smooker P M; Gough T J; Alliaudi C; Brusco A; Spada M; Blau N; Dobos M; Zhang H P; Yang N; Ponzone A; Armarego W L; Cotton R G
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Human mutation 1998;12(4):267-73.
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1997: Dianzani I; Garelli E; Crescenzio N; Timeus F; Mori P G; Varotto S; Nobili B; Brandalise S; Olivieri N F; Gabutti V; Ramenghi U
Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q.
Experimental hematology 1997;25(12):1270-7.
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1997: Guzzetta V; Bonapace G; Dianzani I; Parenti G; Lecora M; Giannattasio S; Concolino D; Strisciuglio P; Sebastio G; Andria G
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
Journal of inherited metabolic disease 1997;20(5):619-24.
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1997: Calì F; Dianzani I; Desviat L R; Perez B; Ugarte M; Ozguc M; Seyrantepe V; Shiloh Y; Giannattasio S; Carducci C; Bosco P; De Leo G; Piazza A; Romano V
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.
Human genetics 1997;100(3-4):350-5.
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1997: Gustavsson P; Willing T N; van Haeringen A; Tchernia G; Dianzani I; Donnér M; Elinder G; Henter J I; Nilsson P G; Gordon L; Skeppner G; van't Veer-Korthof L; Kreuger A; Dahl N
Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.
Nature genetics 1997;16(4):368-71.
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1997: Dianzani U; Bragardo M; DiFranco D; Alliaudi C; Scagni P; Buonfiglio D; Redoglia V; Bonissoni S; Correra A; Dianzani I; Ramenghi U
Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation.
Blood 1997;89(8):2871-9.
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1996: Dianzani I; Garelli E; Ramenghi U
Diamond-Blackfan anemia: a congenital defect in erythropoiesis.
Haematologica 1996;81(6):560-72.
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1996: Ponzone A; Spada M; de Sanctis L; Dianzani I
Phenotyping of phenylketonuric patients by oral phenylalanine loading.
European journal of pediatrics 1996;155(6):523-5.
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1996: Dianzani I; Garelli E; Dompè C; Crescenzio N; Locatelli F; Schilirò G; Castaman G; Bagnara G P; Olivieri N F; Gabutti V; Ramenghi U
Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.
Blood 1996;87(6):2568-72.
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1996: de Sanctis L; Bruno M; Bonetti G; Cosseddu D; Bisceglia L; Ponzone A; Dianzani I
Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients.
Journal of inherited metabolic disease 1996;19(2):243-5.
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1995: Gasparini P; Calonge M J; Bisceglia L; Purroy J; Dianzani I; Notarangelo A; Rousaud F; Gallucci M; Testar X; Ponzone A
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.
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1995: Giannattasio S; Bisceglia L; Lattanzio P; Grifa A; Dianzani I; Gasparini P; Marra E
Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model.
Molecular and cellular probes 1995;9(3):201-5.
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1995: Dianzani I; Giannattasio S; de Sanctis L; Alliaudi C; Lattanzio P; Vici C D; Burlina A; Burroni M; Sebastio G; Carnevale F
Characterization of phenylketonuria alleles in the Italian population.
European journal of human genetics : EJHG 1995;3(5):294-302.
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1995: Dianzani I; Knappskog P M; de Sanctis L; Giannattasio S; Riva E; Ponzone A; Apold J; Camaschella C
Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.
Human mutation 1995;6(3):247-9.
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1994: Dianzani I; Giannattasio S; de Sanctis L; Marra E; Ponzone A; Camaschella C; Piazza A
Genetic history of phenylketonuria mutations in Italy.
American journal of human genetics 1994;55(4):851-3.
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1994: Romano V; Dianzani I; Ponzone A; Zammarchi E; Eisensmith R; Ceratto N; Bosco P; Indelicato A
Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.
Prenatal diagnosis 1994;14(10):959-62.
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1994: Ramenghi U; Ruggieri L; Dianzani I; Rosso C; Brizzi M F; Camaschella C; Pietsch T; Saglio G
Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor.
Stem cells (Dayton, Ohio) 1994;12(5):521-6.
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1993: Cotton R G; Dahl H H; Forrest S; Howells D W; Ramus S J; Bishop R E; Dianzani I; Saleeba J A; Palombo E; Anderson M J
Analysis of sequence contexts flanking T.G mismatches leads to predictions about reactivity of the mismatched T to osmium tetroxide.
DNA and cell biology 1993;12(10):945-9.
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1993: Dianzani I; Camaschella C; Ponzone A; Cotton R G
Dilemmas and progress in mutation detection.
Trends in genetics : TIG 1993;9(12):403-5.
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1993: Camaschella C; Roetto A; De Sandre G; Piperno A; Totaro A; Dianzani I; Gasparini P
Construction of a genetic map telomeric to HLA-A by microsatellite analysis.
Molecular and cellular probes 1993;7(5):411-4.
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1993: Dianzani I; Howells D W; Ponzone A; Saleeba J A; Smooker P M; Cotton R G
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Journal of medical genetics 1993;30(6):465-9.
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1993: Ghia P; Dianzani I; Serra A; Rosso C; Caligaris-Cappio F
A frequent EcoRI polymorphism in the bcl-2 gene.
Human genetics 1993;91(5):513.
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1993: Gasparini P; Borgato L; Piperno A; Girelli D; Olivieri O; Gottardi E; Roetto A; Dianzani I; Fargion S; Schinaia G
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.
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1993: Dianzani I; Camaschella C; Saglio G; Ferrero G B; Ramus S; Ponzone A; Cotton R G
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
Journal of medical genetics 1993;30(3):228-31.
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1993: Ponzone A; Guardamagna O; Dianzani I; Ponzone R; Ferrero G B; Spada M; Cotton R G
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Pediatric research 1993;33(2):125-8.
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1993: Smooker P M; Howells D W; Dianzani I; Cotton R G
The spectrum of mutations in dihydropteridine reductase deficiency.
Advances in experimental medicine and biology 1993;338():135-8.
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1993: Cotton R G; Howells D W; Saleeba J A; Dianzani I; Smooker P M; Jennings I G
Structure function studies of the phenylalanine hydroxylase active site and a summary of structural features.
Advances in experimental medicine and biology 1993;338():55-7.
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1991: Ponzone A; Guardamagna O; Ferraris S; Ferrero G B; Dianzani I; Cotton R G
Tetrahydrobiopterin loading test in hyperphenylalaninemia.
Pediatric research 1991;30(5):435-8.
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1991: Dianzani I; Ramus S; Cotton R G; Camaschella C
A spontaneous mutation causing unstable Hb Hammersmith: detection of the beta 42 TTT----TCT change by CCM and direct sequencing.
British journal of haematology 1991;79(1):127-9.
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1991: Dianzani I; Camaschella C; Saglio G; Forrest S M; Ramus S; Cotton R G
Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch.
Genomics 1991;11(1):48-53.
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1991: Fortina P; Dianzani I; Serra A; Gottardi E; Saglio G; Farinasso L; Piga A; Gabutti V; Camaschella C
A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family.
British journal of haematology 1991;78(4):529-34.
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1991: Forrest S M; Dahl H H; Howells D W; Dianzani I; Cotton R G
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
American journal of human genetics 1991;49(1):175-83.
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1991: Dianzani I; Forrest S M; Camaschella C; Saglio G; Ponzone A; Cotton R G
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
American journal of human genetics 1991;48(3):631-5.
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1991: Dianzani I; Forrest S M; Camaschella C; Gottardi E; Cotton R G
Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch.
American journal of human genetics 1991;48(2):423-4.
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1990: Dianzani I; Devoto M; Camaschella C; Saglio G; Ferrero G B; Cerone R; Romano C; Romeo G; Giovannini M; Riva E
Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
Human genetics 1990;86(1):69-72.
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1990: Dianzani I; Camaschella C; Saglio G; Ferrero G B; Romeo G; Devoto M; Romano C; Cerone R; Giovannini M; Riva E
Haplotype distribution and molecular defects of PKU in Italy.
Journal of inherited metabolic disease 1990;13(3):292-4.
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1990: Ponzone A; Blau N; Guardamagna O; Ferrero G B; Dianzani I; Endres W
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.
Journal of inherited metabolic disease 1990;13(3):298-300.
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1989: Ramenghi U; David O; Dianzani I; Sacchetti L; Biasi F; Chiarpotto E; Poli G
Analysis of the carbonyl compounds produced in beta thalassaemic erythrocytes by oxidative stress.
Haematologica 1989;74(6):531-5.
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1989: Dianzani I; Farinasso L; Fortina P; Camaschella C; Ponzone R; Dahl H H; Cotton R G; Ponzone A
RFLPs of the phenylalanine hydroxylase gene in the Italian population.
Journal of inherited metabolic disease 1989;12(2):162-5.
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