Heterotaxy (also known as situs ambiguous) and situs inversus totalis describe disorders of
laterality in which internal organs do not display their typical pattern of asymmetry. First …

Generation of laterality depends on a pathway which involves the asymmetrically expressed
genes nodal, Ebaf, Leftb, and Pitx2 [1–3]. In mouse, node monocilia are required upstream …

To identify common alleles associated with different histotypes of epithelial ovarian cancer
(EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC …

Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …

Unidirectional fluid flow plays an essential role in the breaking of left-right (LR) symmetry in
mouse embryos, but it has remained unclear how the flow is sensed by the embryo. We …

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been
reported in single populations, with the majority of reports focused on White in Europe and …

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men.
Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We …

Background and objectives: Mutations in podocyte genes are associated with steroid-
resistant nephrotic syndrome (SRNS), mostly affecting younger age groups. To date, it is …

Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive
azoospermia and accounts for 1%–2% of male infertility. A high incidence of mutations of the …

We have examined the molecular basis of Segawa's syndrome in six families with seven
affected children. In one family two siblings with this disease carried a point mutation in exon …