Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Fabrizia Bonatti"'
Autor:
Federico Sicca, Paola Imbrici, Maria Cristina D'Adamo, Francesca Moro, Fabrizia Bonatti, Paola Brovedani, Alessandro Grottesi, Renzo Guerrini, Gabriele Masi, Filippo Maria Santorelli, Mauro Pessia
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 1, Pp 239-247 (2011)
The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K+]o in the brain, which is essential for normal neuronal activity and synaptic functioning. KCNJ10, encoding Kir4.1, has been recently linked
Externí odkaz:
https://doaj.org/article/fb40371b407d4571939b31a70ce7812f
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation
Autor:
Roberto Gastaldi, Patrizia Fiorio, Roberto Ravazzolo, Giorgio Gimelli, Cristina Cuoco, Renata Bocciardi, Lucia De Santis, Fabrizia Bonatti
We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4beacb996b3d0b05a61a6953967fb9c5
http://hdl.handle.net/11567/819375
http://hdl.handle.net/11567/819375
Publikováno v:
Human Mutation. 30:123-133
The BRCA1 tumor suppressor gene is found mutated in familial breast cancer. Although many of the mutations are clearly pathological because they give rise to truncated proteins, several missense variants of uncertain pathological consequences have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6b7f6efa0a788370b42240a8a9d3a20
https://doi.org/10.1002/humu.20817
https://doi.org/10.1002/humu.20817
Autor:
Elisa Sensi, Generoso Bevilacqua, G Cipollini, Paolo Aretini, Grazia Lombardi, Maria A. Caligo, Fabrizia Bonatti, Mariella Tancredi, Chiara Pepe, Elisabetta Falaschi
Publikováno v:
Cancer Genetics and Cytogenetics. 170:93-101
Alterations in BRCA1 and BRCA2 genes account for a large proportion of hereditary breast and ovarian cancers. Mutations and variants of unknown pathological significance have been identified in both genes; however, most of them have been studied only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76931208b18acb9cb8cf1eb2d89d97b8
https://doi.org/10.1016/j.cancergencyto.2006.05.005
https://doi.org/10.1016/j.cancergencyto.2006.05.005
Autor:
Gabriele Masi, Maria Cristina D'Adamo, Paola Imbrici, Federico Sicca, Francesca Moro, Renzo Guerrini, Alessandro Grottesi, Mauro Pessia, Fabrizia Bonatti, Paola Brovedani, Filippo M. Santorelli
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 1, Pp 239-247 (2011)
The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K(+)](o) in the brain, which is essential for normal neuronal activity and synaptic functioning. KCNJ10, encoding Kir4.1, has been recently li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f2baede5bdda9974945477c641a1fd1
https://pubmed.ncbi.nlm.nih.gov/21458570
https://pubmed.ncbi.nlm.nih.gov/21458570
Autor:
Francesco Schittulli, Stefania Tommasi, G Cipollini, Elisa Sensi, Mariella Tancredi, Generoso Bevilacqua, Grazia Lombardi, Maria A. Caligo, A. Paradiso, M. Bruno, Fabrizia Bonatti, Paolo Aretini, Isa Brunetti
Genetic linkage studies have led to the identification of highly penetrant genes as the possible cause of inherited cancer risk in many cancer-prone families. Most women with a family history of breast/ ovarian cancer have tumors characterized by alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73a597233a4da80fa645baf584598926
http://hdl.handle.net/11568/87200
http://hdl.handle.net/11568/87200