Results 31 to 40 of about 29,886 (297)
Molecular Genetics & Genomic Medicine, 2019 Background CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). Methods We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma.
Emmanuelle Souzeau +3 more
doaj +1 more source
Hydrogel-Based Colorimetric Assay for Multiplexed MicroRNA Detection in a Microfluidic Device [PDF]
, 2020 Although microRNA (miRNA) expression levels provide important information regarding disease states owing to their unique dysregulation patterns in tissues, translation of miRNA diagnostics into point-of-care (POC) settings has been limited by practical ...
Doyle, Patrick S. +3 more
core +1 more source
Lipid levels in HIV-positive men receiving anti-retroviral therapy are not associated with copy number variation of reverse cholesterol transport pathway genes Genetics [PDF]
, 2015 Background: The exacerbation of HIV-1 associated dyslipidemia seen in a subset of patients receiving anti-retroviral therapy suggests that genetic factors put these individuals at greater risk of cardiovascular disease.
Bream, JH +6 more
core +3 more sources
Haematologica, 2009 When the molecular background of couples requesting prevention is unclear, family analysis and tools to define rare mutations are essential. We report two novel deletion defects observed in an Italian and in a Turkish couple.
Marion Phylipsen +10 more
doaj +1 more source
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy [PDF]
, 2017 K
Ajzner, Éva +8 more
core +1 more source
Journal of the Formosan Medical Association, 2015 DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients. Sharing the same genetic cause, a wide spectrum of clinical manifestations such as conotruncal anomaly face syndrome, Cayler cardiofacial ...
Chih-Hsuan Fu +3 more
doaj +1 more source
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification
Mitochondrial DNA Part A, 2015 The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations ...
Mayorga, Lía +9 more
openaire +3 more sources
Cellular Oncology, 2009 Background: Assessment of HER-2/neu status in invasive breast cancer is crucial to establish eligibility for trastuzumab and taxane based chemotherapy.
Cathy B. Moelans +6 more
doaj +1 more source
Deletion Mutations in an Australian Series of HNPCC Patients
Hereditary Cancer in Clinical Practice, 2005 Hereditary non polyposis colorectal cancer (HNPCC) is characterized by the presence of early onset colorectal cancer and other epithelial malignancies.
McPhillips Mary +4 more
doaj +1 more source
Journal of Pediatric Research, 2019 Hereditary neuropathy with a liability to pressure palsies (HNPP) represented by recurrent focal pressure neuropathies is rare in childhood. Here we present a 10-year-old girl admitted to our hospital with a recurrent weakness in her foot and diagnosed ...
Seda Kanmaz +7 more
doaj +1 more source