Výsledky vyhledávání - "De Angioletti M"

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: CLINICAL EXPRESSION AND RESPONSE TO TREATMENT ARE MODIFIED BY A UNIQUE INTERACTION WITH CO-EXISTING GLUCOSE 6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Autor: Sica, M., Pellecchia, A., Berardi, M., Gargiulo, L., Olutogun, T. A., Caocci, G., La Nasa, G., De Angioletti, M., Luzzatto, L., Notaro, R.

Publikováno v: Haematologica (Roma) 99 (2014): 386–386.
info:cnr-pdr/source/autori:Sica, M.; Pellecchia, A.; Berardi, M.; Gargiulo, L.; Olutogun, T. A.; Caocci, G.; La Nasa, G.; De Angioletti, M.; Luzzatto, L.; Notaro, R./titolo:PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: CLINICAL EXPRESSION AND RESPONSE TO TREATMENT ARE MODIFIED BY A UNIQUE INTERACTION WITH CO-EXISTING GLUCOSE 6-PHOSPHATE DEHYDROGENASE DEFICIENCY/doi:/rivista:Haematologica (Roma)/anno:2014/pagina_da:386/pagina_a:386/intervallo_pagine:386–386/volume:99

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::fbf49b5e1ee55d68c3d65f74ff66fa6a
https://publications.cnr.it/doc/428372

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La prevenzione dell’anemia mediterranea in Campania: stato attuale e prospettive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3977::19d295dd8cfb60203f6dd47f7c38cb66
http://hdl.handle.net/11591/177170

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Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence

Autor: De Angioletti M., Lacerra G., Sabato V., Carestia C.

Publikováno v: British journal of haematology
124 (2004): 224–231. doi:10.1046/j.1365-2141.2003.04754.x
info:cnr-pdr/source/autori:De Angioletti M.; Lacerra G.; Sabato V.; Carestia C./titolo:Beta+45 G--> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence/doi:10.1046%2Fj.1365-2141.2003.04754.x/rivista:British journal of haematology (Print)/anno:2004/pagina_da:224/pagina_a:231/intervallo_pagine:224–231/volume:124

A family from the Southeast of Italy was found to have a novel beta-globin mutant, beta+45 G ->C, with the features of a silent beta-thalassaemia mutation. It was asymptomatic in two heterozygotes, but its interaction with the severe thalassaemia mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::bd756f6fe7ca4352e9b8d0314893d780
http://www.cnr.it/prodotto/i/26650

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Beta-thalassaemia-87 C > G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients

Autor: De Angioletti M., Lacerra G., Pagano L., Alessi M., D' Avino R., Manca L., Carestia C.

Publikováno v: British journal of haematology
126 (2004): 743–749. doi:10.1111/j.1365-2141.2004.05089.x
info:cnr-pdr/source/autori:De Angioletti M.; Lacerra G.; Pagano L.; Alessi M.; D' Avino R.; Manca L.; Carestia C./titolo:Beta-thalassaemia-87 C > G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients/doi:10.1111%2Fj.1365-2141.2004.05089.x/rivista:British journal of haematology (Print)/anno:2004/pagina_da:743/pagina_a:749/intervallo_pagine:743–749/volume:126

A clinical, haematological, biochemical and molecular study was carried out in 17 patients affected with thalassaemia intermedia, who were compound heterozygotes for the beta-thalassaemia mutation beta-87 C-->G to determine the genetic basis of their

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::a2790d194e7e8899a3893d0dabbefbf2
https://publications.cnr.it/doc/169720

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The G>C substitution in the Kozak sequence of the beta globin gene: studies of transcription and translation in vitro

Autor: De Angioletti M., Lacerra G., Savia G., Sabato V., Carestia C.

Publikováno v: 9th International conference on Thalassaemia and the Haemoglobinopathies, Città del Mare Terrasini (PA), 2003
info:cnr-pdr/source/autori:De Angioletti M., Lacerra G., Savia G., Sabato V., Carestia C./congresso_nome:9th International conference on Thalassaemia and the Haemoglobinopathies/congresso_luogo:Città del Mare Terrasini (PA)/congresso_data:2003/anno:2003/pagina_da:/pagina_a:/intervallo_pagine
Retreat IGB, Castellammare di Stabia (NA), 2003
info:cnr-pdr/source/autori:De Angioletti M., Lacerra G., Savia G., Sabato V., Carestia C./congresso_nome:Retreat IGB/congresso_luogo:Castellammare di Stabia (NA)/congresso_data:2003/anno:2003/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::487d89ca3321d5a8d913817d3439b3ea
https://publications.cnr.it/doc/109975

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Hb Bronte or alpha93(FG5)Val>Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia phenotype

Autor: Lacerra G, Testa R, De Angioletti M, Schiliro G, Carestia C

Publikováno v: Hemoglobin 27 (2003): 149–159.
info:cnr-pdr/source/autori:Lacerra G, Testa R, De Angioletti M, Schiliro G, Carestia C/titolo:Hb Bronte or alpha93(FG5)Val>Gly: a new unstable variant of the alpha2-globin gene, associated with a mild alpha(+)-thalassemia phenotype/doi:/rivista:Hemoglobin/anno:2003/pagina_da:149/pagina_a:159/intervallo_pagine:149–159/volume:27

We report a new unstable variant identified in three carriers of a family from East Sicily; it was named Hb Bronte after the place from which the family originated. DNA sequencing from nucleotides -181 to +894 (alpha1) and to +884 (alpha2) revealed a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::cece405ee96a1768a47cbf042b27c998
http://www.cnr.it/prodotto/i/26421

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Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features

Autor: De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C.

Publikováno v: Human mutation 20 (2002): 358–367.
info:cnr-pdr/source/autori:De Angioletti M; Lacerra G; Gaudiano C; Mastrolonardo G; Pagano L; Mastrullo L; Masciandaro S; Carestia C./titolo:Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic and phenotypic features/doi:/rivista:Human mutation/anno:2002/pagina_da:358/pagina_a:367/intervallo_pagine:358–367/volume:20

We characterized mutations and haplotypes of the delta-globin gene (HBD, MIM# 142000) in two regions of southern Italy. Mutations were discovered by screening for individuals with Hb A2A), Hb A2-Campania (g.302C>A), Hb A2-Lucania (g.393C>G), and Hb A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::bd5d50ad4ebd352725ac3d82f45f6cdd
http://www.cnr.it/prodotto/i/26489

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