Latest papers

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: a two-stage case-control study.

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer.

Genetic power of a Brazilian three-generation family with generalized aggressive periodontitis.

Autosomal dominant microtia

Von Hippel Lindau syndrome.

The clinical context of copy number variation in the human genome.

A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers

Gender-dependent penetrance of small heterodimer partner (SHP) gene deficiency in overweight/obese Chinese pedigrees.

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

Complex genetics in idiopathic hypogonadotropic hypogonadism.

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.

Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.

Reconstructability analysis as a tool for identifying gene-gene interactions in studies of human diseases.

Genetic risk of breast cancer.

[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].

Glu298Asp polymorphism of the endothelial nitric oxide synthase gene in Turkish patients with ischemic stroke

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)

Cutaneous melanoma in childhood and adolescence shows frequent loss of INK4A and gain of KIT.

The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family.