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of 5
pro vyhledávání: '"Lisa Cleva"'
Autor:
Laura Travan, Maria Santa Rocca, Francesca Buonomo, Lisa Cleva, Vanna Pecile, Angela De Cunto
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 3 (2015)
Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q2
Externí odkaz:
https://doaj.org/article/73268180c450435f88ce198921ba00c0
Autor:
Maria Santa Rocca, Elena Speltra, Lisa Cleva, Alberto Ferlin, Vanna Pecile, Carlo Foresta, Riccardo Selice, A. Di Mambro
Publikováno v:
Andrology. 4:328-334
The Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder in males, characterized by at least one supernumerary X chromosome (most frequent karyotype 47,XXY). This syndrome presents with a broad range of phenotypes. The common chara
Publikováno v:
Journal of Cell Science & Therapy.
Lipoblastoma is a benign tumor that often has rearrangements of the 8q11-13 region targeting the PLAG1 gene, which is involved in the process of tumourigenesis. We described a signature of chromotripsis in a thigh lipoblastoma, as first report of chr
Autor:
Vanna Pecile, Lisa Cleva, Tadej Battelino, Tinka Hovnik, Jernej Kovač, Paolo Gasparini, Mojca Žerjav Tanšek, Marija Volk, Primož Kotnik, Sara Bertok
Publikováno v:
Zdravstveno varstvo
Slovenian Journal of Public Health, Vol 54, Iss 2, Pp 69-73 (2015)
Slovenian Journal of Public Health, Vol 54, Iss 2, Pp 69-73 (2015)
Introduction. Developmental delay and dysmorphic features affect 1 - 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c681053017c86fdaeda5a94f72ddd0
http://hdl.handle.net/11368/2881261
http://hdl.handle.net/11368/2881261
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports. 3:232470961557494
Chromosomal abnormalities may cause growth failure before or since birth. 9q duplication is reported as a cause of intrauterine growth restriction, mild dysmporphism, and intellectual disabilities. We report a case of a maternally inherited 9q21.31q2