Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
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DOI: 10.1186/s13052-019-0659-1
Abstract: BackgroundBardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often… read more here.
Keywords: mutation; genes patients; mutation profile; bbs genes ... See more keywords
Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis
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DOI: 10.3390/cancers15061852
Abstract: Simple Summary Approximately 5–10% of all pancreatic adenocarcinomas (PDACs) are caused by highly penetrant pathogenic germline variants (PVs). Specific surveillance programs and eventual targeted oncological therapies can be offered to patients carrying some of the… read more here.
Keywords: genes patients; related hereditary; predisposition genes; suspected related ... See more keywords
PCD Genes—From Patients to Model Organisms and Back to Humans
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DOI: 10.3390/ijms23031749
Abstract: Primary ciliary dyskinesia (PCD) is a hereditary genetic disorder caused by the lack of motile cilia or the assembxly of dysfunctional ones. This rare human disease affects 1 out of 10,000–20,000 individuals and is caused… read more here.
Keywords: patients model; motile cilia; model organisms; organisms back ... See more keywords