Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Francesca Gerundino"'
Autor:
Alfredo Orrico, Giuseppina Marseglia, Chiara Pescucci, Ambra Cortesi, Paola Piomboni, Andrea Giansanti, Francesca Gerundino, Roberto Ponchietti
Publikováno v:
International Journal of Fertility and Sterility, Vol 9, Iss 4, Pp 581-585 (2016)
Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported. In particular, only three individuals has been
Externí odkaz:
https://doaj.org/article/4e12401f798f4e55a372e5b2a38eab91
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
Autor:
Elisabetta Pelo, Francesca Gerundino, Matteo Benelli, Claudia Giachini, Benedetta Federighi, Carla Antonelli, Giuseppina Marseglia, Chiara Pescucci, Francesca Torricelli
Publikováno v:
European Journal of Medical Genetics. 57:649-653
We describe a patient with speech impairment, global developmental delay, behavioural problems and a 186 kb de novo microdeletion on 16p11.2. There are four OMIM Phenotypes entries partially overlapping with the deleted region and related to recurren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c613e36d602eea4901e792fd6caa015
https://doi.org/10.1016/j.ejmg.2014.09.009
https://doi.org/10.1016/j.ejmg.2014.09.009
Autor:
Matteo Benelli, Maria Rosaria Scordo, Francesca Torricelli, Valeria Scandurra, Chiara Pescucci, Genni Nannetti, Alberto Magi, Giuseppina Marseglia, Francesca Gerundino, Elisabetta Biagini
Publikováno v:
European Journal of Medical Genetics. 55:216-221
Several cases of interstitial deletion encompassing band 18q12.3 are described in patients with mild dysmorphic features, mental retardation and impairment of expressive language. The critical deleted region contains SETBP1 gene (SET binding protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3936ea8695387676cdf60f903bf170
https://doi.org/10.1016/j.ejmg.2012.01.005
https://doi.org/10.1016/j.ejmg.2012.01.005