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Molecular Genetics & Genomic Medicine

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

Introduction The greatly improved understanding of molecular etiology of cancer (Chin and Gray 2008; Stratton et al. 2009; International Cancer Genome C et al., 2010; Mardis...

Celý článek   Molecular Genetics & Genomic Medicine Číslo: 3/2016

Specializace: genetika
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

Introduction 1964; Pullinger et al. 2003; Soutar and Naoumova 2007; Kolovou et al. 2011). High LDL-C in the blood deposits in tissues leads to a 20-fold increase in the risk...

Celý článek   Molecular Genetics & Genomic Medicine Číslo: 3/2016

Specializace: genetika
 
 
<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

Introduction Rubinstein–Taybi syndrome (RTS [OMIM 180849]) is an autosomal dominant congenital disorder with an estimated incidence of 1:100,000–125,000. RTS is...

Celý článek   Molecular Genetics & Genomic Medicine Číslo: Early View/2015

Specializace: genetika
<i>Fam83h</i> null mice support a neomorphic mechanism for human ADHCAI

Fam83h null mice support a neomorphic mechanism for human ADHCAI

Introduction Amelogenesis imperfecta (AI) is a group of human inherited disorders characterized by enamel malformations with or without nondental phenotypes (Witkop and Sauk...

Celý článek   Molecular Genetics & Genomic Medicine Číslo: Early View/2015

Specializace: genetika
 
 
 
 
 
 

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