Inherited desmosomal diseases are characterised by skin and/or cardiac features. Dermatological features might be a clue in the determination of the underlying life-threatening cardiac disease. This article aims to propose a dermatological algori ... ...
Inherited desmosomal diseases are characterised by skin and/or cardiac features. Dermatological features might be a clue in the determination of the underlying life-threatening cardiac disease. This article aims to propose a dermatological algori ... ...
Risky business: getting a grip on BRIP
2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210130:risky-business-getting-grip&catid=1020:biochimica&Itemid=142 Journal of Medical Genetics current issue [email protected]
BRIP1 is one of several DNA damage response genes that have been implicated in both Fanconi Anaemia and hereditary breast and ovarian cancer. BRIP1 binds to the BRCT1 C-Terminus (BRCT) domain and functions in BRCA1-dependent DNA repair and ... ...
BRIP1 is one of several DNA damage response genes that have been implicated in both Fanconi Anaemia and hereditary breast and ovarian cancer. BRIP1 binds to the BRCT1 C-Terminus (BRCT) domain and functions in BRCA1-dependent DNA repair and ... ...
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210131:evidence-that-protein-truncating&catid=1020:biochimica&Itemid=142 Journal of Medical Genetics current issue [email protected]Background
BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and p ... ...
Background
BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and p ... ...
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210132:improving-diagnosis-broadening-phenotypes&catid=1020:biochimica&Itemid=142 Journal of Medical Genetics current issue [email protected]Background
We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay.
Methods
In 400 patients wi ... ...
Background
We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay.