Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Antonella Fuccio"'
Autor:
Felice Amato, Mariangela Iorio, Rosaria Ingino, Francesco Salvatore, Giuseppe Castaldo, Antonella Fuccio, Rossella Tomaiuolo, Mirella Filocamo, Ausilia Elce
Publikováno v:
The Journal of Molecular Diagnostics. 13:648-656
Approximately 90% of patients with osteogenesis imperfecta (OI) exhibit dominant COL1A1 or COL1A2 mutations; however, molecular analysis is difficult because these genes span 51 and 52 exons, respectively. We devised a PCR-denaturing high-performance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5e8b3f90497b0a509b9fec893fcf8a
https://doi.org/10.1016/j.jmoldx.2011.06.006
https://doi.org/10.1016/j.jmoldx.2011.06.006
Autor:
Salvatore Leonardi, Giuseppe Castaldo, N. Rigillo, Donatello Salvatore, Antonella Fuccio, Francesco Salvatore, Natalia Lizzi, Teresa Santostasi, Valeria Raia, Mario La Rosa
Publikováno v:
American Journal of Medical Genetics. 98:294-297
During a multicentric study conducted in Southern Italy, we studied five sets of cystic fibrosis siblings bearing a strongly discordant liver phenotype, three with genotype ΔF508/R553X, one with genotype ΔF508/unknown, and one with genotype unknown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89604687637edcf41a16a7fba43b100
https://doi.org/10.1002/1096-8628(20010201)98:4<294::aid-ajmg1097>3.0.co
https://doi.org/10.1002/1096-8628(20010201)98:4<294::aid-ajmg1097>3.0.co
Autor:
Giuseppe Castaldo, Cécile Cazeneuve, Michel Goossens, Francesco Salvatore, Donatello Salvatore, Antonella Fuccio, Luigi Picci, Maurizio Scarpa, Valeria Raia
Publikováno v:
Scopus-Elsevier
Background: The search for the eight most frequent mutations (i.e., ΔF508, G542X, W1282X, N1303K, 1717-1G→A, R553X, 2183AA→G, and I148T) by allele-specific oligonucleotide dot-blot analysis revealed 78% of 396 cystic fibrosis alleles in Southern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d37522744906ee419d4f0c7de1c048fa
https://doi.org/10.1093/clinchem/45.7.957
https://doi.org/10.1093/clinchem/45.7.957
Autor:
Concetta Massa, Emilia Rippa, Michela Grosso, Pasquale Martinelli, Antonella Fuccio, Francesco Salvatore, Giuseppe Castaldo, Dario Paladini
We performed prenatal diagnoses for cystic fibrosis in 32 high risk (1:4) couples (including a dizygotic pregnancy). Chorionic villi sampling did not cause abortion or fetal malformation in any case. The preliminary analysis of 9 short tandem repeats
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0724a468fcfe22d9395d6e2475410556
http://hdl.handle.net/11588/146732
http://hdl.handle.net/11588/146732
Autor:
Donatello Salvatore, Cécile Cazeneuve, Michel Goossens, Maurizio Scarpa, Luigi Picci, Antonella Fuccio, Giuseppe Castaldo, Francesco Salvatore
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed7934d0dd28e63fdc49cf109ca547c
https://pubmed.ncbi.nlm.nih.gov/10477439
https://pubmed.ncbi.nlm.nih.gov/10477439
Autor:
Giuseppe Castaldo, Antonella Fuccio, Cécile Cazeneuve, Luigi Picci, Donatello Salvatore, Maurizio Scarpa, Michel Goossens, Francesco Salvatore
Publikováno v:
Human Mutation. 14:272
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::01c5a3f82ebf4cad6fde7fd24489b303
https://doi.org/10.1002/(sici)1098-1004(1999)14:3<272::aid-humu18>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1999)14:3<272::aid-humu18>3.3.co