Situs inversus totalis is a rare congenital abnormality characterized by a mirror-image
transposition of both the abdominal and the thoracic organs. While this anomaly is known …

BACKGROUND Human male infertility has a notable genetic component, including well-
established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting
in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians …

Congenital heart disease (CHD) is the most prevalent birth defect, affecting nearly 1% of live
births; the incidence of CHD is up to tenfold higher in human fetuses,. A genetic contribution …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …

A characteristic feature of the human airway epithelium is the presence of ciliated cells
bearing motile cilia, specialized cell surface projections containing axonemes composed of …

Spermatozoon is a motile cell with a special ability to travel through the woman's
reproductive tract and fertilize an oocyte. To reach and penetrate the oocyte, spermatozoa …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Rationale: The relationship between clinical phenotype of childhood primary ciliary
dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. Objectives: To …