Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maria Ciavarella"'
Autor:
Paolo Fontana, Emanuele Agolini, Dario Cocciadiferro, Laura Letizia Mazzarelli, Aniello Di Meglio, Antonio Novelli, Gioacchino Scarano, Cinzia Lombardi, Maria Ciavarella, Fortunato Lonardo
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 36
Autor:
Anna Capalbo, Mariateresa Falco, Gioacchino Scarano, Laura Bernardini, Maria Grazia Giuffrida, Cinzia Lombardi, Francesca Scarano, Giuseppina Cantalupo, Fortunato Lonardo, Marianna Maioli, Maria Ciavarella, Paolo Fontana
Publikováno v:
J Pediatr Genet
Inverted duplications deletions are rare, complex, and nonrecurrent chromosomal rearrangements associated with a variable phenotype. In this case report, we described the phenotype and genotype of a 14-week-old male fetus, who was aborted after disco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf41051cec3651b3f3b650312b470358
https://europepmc.org/articles/PMC8416190/
https://europepmc.org/articles/PMC8416190/
Autor:
Maria Ciavarella, Fortunato Lonardo, Antonio Novelli, Paolo Fontana, Kristel Bejo, Francesca Scarano, Marianna Maioli, Monia Ginevrino, Giuseppina Cantalupo, Claudia Costabile, Cinzia Lombardi
Publikováno v:
European Journal of Medical Genetics. 64:104321
Several patients with chromosomal deletions including ZFHX4 gene have been described, whereas point mutations are very rare. This gene encodes for a transcription factor involved in the development of several embryonal processes, including brain diff
Autor:
Francesca Scarano, Luisa Forino, Marianna Maioli, Cinzia Lombardi, Maria Ciavarella, Roberto Ciccone, Lucia Perone, Fortunato Lonardo, Giuseppina Cantalupo, Lucia Masella, Matteo Della Monica
Publikováno v:
American Journal of Medical Genetics Part A. 155:769-777
Partial trisomy 16 is rare and most of the reported cases are secondary to chromosome rearrangements resulting in concurrent monosomies or trisomies of a second chromosome. Only a few patients survive the neonatal period and the duplication of the lo
Autor:
Giuseppina Cantalupo, Fortunato Lonardo, Cinzia Lombardi, A. Nazzaro, Matteo Della Monica, Maria Ciavarella, Marianna Maioli, Lucia Masella, Gioacchino Scarano
Publikováno v:
Prenatal Diagnosis. 29:998-1001
The routine prenatal diagnosis includes a standard cytogenetic study and a careful evaluation of the fetus by one or more ultrasonographic scans. Usually there is a full concordance between cytogenetic and ultrasonographic fetal sex determination, bu
Autor:
Luigi, Nappi, Phd, Md, Greco, Pantaleo, Maria Ciavarella Foggia, Italy Stefano Angioni, Phd, Cagliari, Italy Sven Becker, Phd, Tübingen, Germany Arnaud Wattiez, Phd, Strasbourg, France
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99331e3c3896f2e16e54581ff4f85c61
http://hdl.handle.net/11392/2333330
http://hdl.handle.net/11392/2333330