Zobrazeno 1 - 10
of 47
pro vyhledávání: '"B. Minuti"'
Akademický článek
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Autor:
Ugo Ricci, S. Palchetti, Elisabetta Pelo, S. Iozzi, B. Minuti, A. Lari, Beatrice Boschi, F. Gerundino
Publikováno v:
Forensic Science International: Genetics Supplement Series. 7:152-153
Hematopoietic stem cell transplantation (HSCT) is the predominant curative treatment for many malignant and non-malignant haematological diseases. Early detection of graft rejection and disease relapse following HSCT improves patient outcomes by allo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ea334994e984c154284ea0ed72efdca
https://doi.org/10.1016/j.fsigss.2019.09.059
https://doi.org/10.1016/j.fsigss.2019.09.059
Autor:
G. Sglavo, Matteo Benelli, Francesca Gerundino, Elisa Contini, Enrico Colosi, Anna Conti, Ermanna Lisi, Rita Cicatiello, Maya Rossi, Marta Mazzi, Giuseppe Maria Maruotti, B. Minuti, Enrico Periti, Claudia Giachini, Giuseppina Marseglia, Fiammetta Sbernini, Valentina D'Ambrosio, Sabrina Frusconi, Elisabetta Pelo, Adalgisa Cordisco, Lucia Staderini, Chiara Pescucci, Costanza Giuliani, Genni Nannetti, Francesca Torricelli, Francesca Marin
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 30:710-716
The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb2db50592a3cb1958b67617c8cd931
https://doi.org/10.1080/14767058.2016.1183633
https://doi.org/10.1080/14767058.2016.1183633
Akademický článek
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Akademický článek
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Autor:
Federico Perfetto, A. Cania, S. Di Lollo, B. Minuti, Anna Caldini, Franco Bergesio, Anna Maria Ciciani, S. Nigrelli, Chiara Nozzoli, G. Curciarello, Maurizio Salvadori
Publikováno v:
Amyloid. 18:86-88
In order to improve the diagnosis of amyloidosis and allow a standardized therapeutic approach, 20 years ago we created a specific Centre in Florence with a Register dedicated to the dise...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed940b1408ccac706a5386adc1cf91d
https://doi.org/10.3109/13506129.2011.574354031
https://doi.org/10.3109/13506129.2011.574354031
Autor:
Mauro Rongioletti, I. Giotti, Alessandra Luciano, Melania Belli, C. Centrone, F. Torricelli, Cinzia Vaccarella, B. Minuti, Fabrizio Papa, C. Giuliani, Giancarlo M. Liumbruno, Valentina Mazzucchi, M.B. Majolini
Publikováno v:
Journal of Cystic Fibrosis. 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daed411d9bcbc6cc73a2a40c929b3b4e
Autor:
Luigi Da Prato, Francesca Torricelli, Nicola Marziliano, Ilaria Passerini, Elisabetta Pelo, B. Minuti
Publikováno v:
Clinical Chemistry. 46:423-425
For detection of nucleotide polymorphisms or microinsertions/deletions, an optimal genotyping method would be rapid and economical. Newer, homogeneous, and automated genotyping methods with fluorescent oligonucleotide probes (1)(2)(3) can be expensiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459154d24fe0e81309c736755513deac
https://doi.org/10.1093/clinchem/46.3.423
https://doi.org/10.1093/clinchem/46.3.423
Autor:
M. Acquila, Giuseppe Castaldo, L. Tagliabue, Isabella Garagiola, Roberta Salviato, F. Riccardi, Donata Belvini, Elvira Grandone, A. M. Lombardi, R. Santacroce, B. Minuti, Maurizio Margaglione, S. H. Giacomelli
To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using screening methods denaturing high-performance liquid chromatography (DHPLC), conformational-sensitive gel electrophoresis (CSGE)] and/or direct sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b938ddfe2b1f64651b2b48e14ff9d1
http://hdl.handle.net/11588/343101
http://hdl.handle.net/11588/343101
Autor:
Roberto Tarquini, Francesca Torricelli, Sabrina Frusconi, Federico Perfetto, B. Minuti, Elisabetta Pelo, Anna Miliani, Stefano Del Pace, Franco Bergesio
Publikováno v:
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 14(4)
We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included hea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c56a090ee2562ec956201f7e4c3f2797
https://pubmed.ncbi.nlm.nih.gov/17968689
https://pubmed.ncbi.nlm.nih.gov/17968689