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Capture-based next-generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing

Capture-based next-generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing

Background: Targeted therapies including monoclonal antibodies and small molecule inhibitors have dramatically changed the treatment of cancer over past 10 years. Their...

Full article   Molecular Genetics & Genomic Medicine Issue: 3/2016

Specialization: Medical genetics
Variable expressivity and co-occurrence of <i>LDLR</i> and <i>LDLRAP1</i> mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy

Background: The familial inherited genetic disorder of lipoprotein metabolism affects more than 10 million individuals around the world. Lebanon is one of the several endemic...

Full article   Molecular Genetics & Genomic Medicine Issue: 3/2016

Specialization: Medical genetics
<i>CREBBP</i> and <i>EP300</i> mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation...

Full article   Molecular Genetics & Genomic Medicine Issue: Early View/2015

Specialization: Medical genetics
<i>Fam83h</i> null mice support a neomorphic mechanism for human ADHCAI

Fam83h null mice support a neomorphic mechanism for human ADHCAI

Truncation mutations in FAM83H (family with sequence similarity 83, member H) cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), but little is known about...

Full article   Molecular Genetics & Genomic Medicine Issue: Early View/2015

Specialization: Medical genetics