Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gian Pio de Cillis"'
Publikováno v:
International Journal of Legal Medicine. 119:153-157
A case of sudden cardiac death in a 3-year-old young male affected by Prader-Willi syndrome, clinically diagnosed and confirmed by means of DNA methylation, is presented. The infant suddenly collapsed at home and was taken apparently unconsciousness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdbe54b33991ce64f18392f7d78ab6d7
https://doi.org/10.1007/s00414-004-0513-9
https://doi.org/10.1007/s00414-004-0513-9
Autor:
Marta Centra, Leopoldo Zelante, Leonarda lanzano, Manuel Buchwald, Gian Pio de Cillis, Anna Savoia
Publikováno v:
Human Molecular Genetics. 4:1321-1326
Fanconi anaemia (FA) is an autosomal recessive disease characterised by progressive pancytopenia, chromosome instability and an increased risk of cancer. The Fanconi Anaemia Complementation Group C (FACC) gene is mutated in patients of complementatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a203be1ebd8eff4f110a95ae0c045f
https://doi.org/10.1093/hmg/4.8.1321
https://doi.org/10.1093/hmg/4.8.1321
Autor:
Rita Mingarelli, Gian Pio de Cillis, Leonardo D'Agruma, Paolo Balestrazzi, Leopoldo Zelante, Paolo Gasparini
Publikováno v:
Human genetics. 97(4)
Neurofibromatosis type 1 (NF1) of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, cafe-au-lait spots and Lisch nodules of the iris. The high mutation rate at the NF1 locus results in a wide range
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d576c7fc1f6fb66700f1239b3764eb
https://pubmed.ncbi.nlm.nih.gov/8834249
https://pubmed.ncbi.nlm.nih.gov/8834249
Publikováno v:
International Journal of Legal Medicine; May2005, Vol. 119 Issue 3, p153-157, 5p