FCE News https://fcenews.it/index.php 2016-05-17T12:21:03Z Joomla! 1.5 - Open Source Content Management Why fraternal twins run in families 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210123:fraternal-twins-families&catid=1020:biochimica&Itemid=142 Genetics News From Medical News Today [email protected] BiochimicaIf a woman's female relatives have fraternal twins, she is more likely to give birth to twins herself, but the genes behind this phenomenon have remained a mystery. ... ... BiochimicaIf a woman's female relatives have fraternal twins, she is more likely to give birth to twins herself, but the genes behind this phenomenon have remained a mystery. ... ... First small molecule targeted therapy to mitigate hearing loss in Usher syndrome type 3 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210124:first-small-molecule-targeted&catid=1020:biochimica&Itemid=142 Genetics News From Medical News Today [email protected] BiochimicaUsher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. ... ... BiochimicaUsher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. ... ... Chemists use DNA to build the world's tiniest thermometer 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210125:chemists-build-world-tiniest&catid=1020:biochimica&Itemid=142 Genetics News From Medical News Today [email protected] BiochimicaResearchers at University of Montreal have created a programmable DNA thermometer that is 20,000x smaller than a human hair. ... ... BiochimicaResearchers at University of Montreal have created a programmable DNA thermometer that is 20,000x smaller than a human hair. ... ... What's missing from current methods for genetic screening of sperm donors 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210126:what-missing-from-current&catid=1020:biochimica&Itemid=142 Genetics News From Medical News Today [email protected] BiochimicaU.S. sperm banks perform genetic testing to screen for and disqualify carriers of a limited number of recessive disease mutations, but more comprehensive and affordable DNA-based screening methods... ... ... BiochimicaU.S. sperm banks perform genetic testing to screen for and disqualify carriers of a limited number of recessive disease mutations, but more comprehensive and affordable DNA-based screening methods... ... ... AlizĂ© Pharma reports positive results from its Phase II clinical trial of AZP-531 in Prader-Willi Syndrome 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210127:aliz-pharma-reports-positive&catid=1020:biochimica&Itemid=142 Genetics News From Medical News Today [email protected] BiochimicaResults from the randomized, double blind and placebo-controlled Phase II trial show significant improvements in hyperphagia-related behavior, a key therapeutic objective in Prader-Willi Syndrome. ... ... BiochimicaResults from the randomized, double blind and placebo-controlled Phase II trial show significant improvements in hyperphagia-related behavior, a key therapeutic objective in Prader-Willi Syndrome. ... ... 20 year-old puzzle solved through genetic advances: A genetic corneal dystrophy disorder 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210128:year-puzzle-solved-through&catid=1020:biochimica&Itemid=142 Genetics News From Medical News Today [email protected] Biochimica Researchers from the University of Liverpool have identified a specific gene that plays a key role in an inherited eye disorder. ... ... Biochimica Researchers from the University of Liverpool have identified a specific gene that plays a key role in an inherited eye disorder. ... ... Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases 2016-04-29T08:00:00Z 2016-04-29T08:00:00Z https://fcenews.it/index.php?option=com_content&view=article&id=210129:combination-palmoplantar-keratoderma-hair&catid=1020:biochimica&Itemid=142 Journal of Medical Genetics current issue [email protected] Biochimica

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 ... ...

Biochimica

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]

Biochimica

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 ... ...

Biochimica

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]

BiochimicaBackground

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 ... ...

BiochimicaBackground

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]

BiochimicaBackground

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 ... ...

BiochimicaBackground

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 ... ...