Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Michelina Sarno"'
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Results from a survey in healthy blood donors in South Eastern Italy indicate that we are far away from herd immunity to SARS‐CoV‐2
Autor: Tommaso Granato, Sergio Lo Caputo, Michelina Sarno, Lucia De Feo, Rosella De Nittis, Teresa Santantonio, Josè Ramòn Fiore, Annamaria Silvana de Rosa, Armando De Carlo, Maurizio Margaglione, Maria D' Errico, Fabio Arena, Michele Centra, Gaetano Corso, Mariantonietta Di Stefano
Publikováno v: Journal of Medical Virology
Here we present results from a survey on anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) seroprevalence in healthy blood donors from a low incidence coronavirus disease 2019 area (Apulia region, South Eastern Italy). Among 904 subje
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe536efda06059371d6a3c429fecd36
http://europepmc.org/articles/PMC7436723
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5
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family
Autor: Gianpaolo Grilli, Massimiliano Chetta, Nenad Bukvic, Maurizio Margaglione, Valeria Bafunno, Michelina Sarno, Vincenzo Bertozzi, Francesco Perfetto, Rosario Magaldi
Publikováno v: Indian Journal of Human Genetics
McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b299f727be10847713c30d1788a2011
http://europepmc.org/articles/PMC3214326
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6
Gene polymorphisms and sport attitude in Italian athletes
Autor: Valeria Bafunno, Maurizio Margaglione, Mauro Franzetti, Annamaria Petito, Salvatore Iuso, Michelina Sarno, Massimiliano Chetta, Francesco Sessa, Daniela Pisanelli
Publikováno v: Genetic testing and molecular biomarkers. 15(4)
The aim of this study was to evaluate whether the distribution of polymorphisms in the ACE, ACTN3, NOS3, UCP2, and UCP3 genes, which has been reported to be correlated with different physiological parameters, played a role in sport performance. We fo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38fc4b7e8eb4c8f684438eb064de79cc
https://pubmed.ncbi.nlm.nih.gov/21254885
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7
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH
Autor: Carla Cesarano, Vittoria Longo, V. Delli Carri, R. Santacroce, G. Pustorino, Nenad Bukvic, Michelina Sarno, M. L. Di Cosola, Antonio Novelli, Massimiliano Chetta, Maurizio Margaglione, Francesco Sessa, Mattia Gentile
X;Y translocation is a relatively rare event in humans. Analyzed cytogenetically, the majority of these aberrations have breakpoints at Xp22 and Yq11. Females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, while the males ma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56f1eefe5c043835155fd7d5c56474a
http://hdl.handle.net/20.500.11769/528964
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8
Detection of New Deletions in a Group of Italian Patients with Hemophilia A by Multiplex Ligation-Dependent Probe Amplification
Autor: Maurizio Margaglione, Giovanna D'Andrea, Francesco Sessa, Valeria Bafunno, Vittoria Longo, Massimiliano Chetta, Rosa Santacroce, Michela Tomaiuolo, Nenad Bukvic, Michelina Sarno
Aim: Hemophilia A is an X-linked bleeding disorder caused by mutations widespread in the human coagulation F8 gene. Apart from common intrachromosomal translocations, most of the mutations in the F8 gene are detectable using genomic sequencing analys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92404d108d3b57a909186035126f8a32
http://hdl.handle.net/20.500.11769/528965
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9
Fetal sex identification in maternal plasma by means of short tandem repeats on chromosome x
Autor: Donatella Colaizzo, Michela Tomaiuolo, Maria Matteo, Gennaro Vecchione, Michelina Sarno, Pantaleo Greco, Elvira Grandone, Maurizio Margaglione, Rosella Petraroli
Publikováno v: Annals of the New York Academy of Sciences. 1137
Analysis of fetal DNA in maternal plasma has recently been introduced as a new method for noninvasive prenatal diagnosis. In the majority of cases, the Y chromosome-specific sequences are commonly used as a fetus-specific marker with a high risk of f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e17db65d1d4761c0b28c5367c8f8a8
https://pubmed.ncbi.nlm.nih.gov/18837940
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10
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy
Autor: Anna Gallone, Maurizio Margaglione, Rita Santoro, Michelina Sarno, Gaetano Muleo, Rosa Santacroce, Piergiorgio Iannaccaro, Francesco Sessa, Vittoria Longo, Gennaro Vecchione
Publikováno v: Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 19(3)
Hemophilia A is an X-linked bleeding disorder caused by widespread mutations in the human coagulation factor 8 gene. We have searched for mutations in factor 8 gene DNAs from 40 unrelated Italian patients with hemophilia A. All patients came from the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5d809e173a0b9d9253720a51ec088d
https://pubmed.ncbi.nlm.nih.gov/18388498
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