Array-based whole genome investigation or molecular karyotyping enables the genome-
wide detection of submicroscopic imbalances. Proof-of-principle experiments have …

A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with
normal male habitus but with azoospermia. Five of them were found during a survey of 1170 …

BACKGROUND: Chromosomal rearrangements in Xq are frequently associated with
premature ovarian failure (POF) and have defined a POF 'critical region'. Search for genes …

Significant improvement in the understanding of mesenchymal stem cell (MSC) biology has
opened the way to their clinical use. However, concerns regarding the possibility that MSCs …

Male to female sex reversal has been observed in individuals with duplications of the short
arm of the X chromosome. Here we demonstrate that sex reversal results from the presence …

Chromosome conformation capture methods have identified subchromosomal structures of
higher-order chromatin interactions called topologically associated domains (TADs) that are …

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and
variable facial and digital dysmorphisms. We describe nine affected individuals, including …

Cardiac myosin binding protein‐C (cardiac MyBP‐C, cardiac C protein) belongs to a family
of proteins implicated in both regulatory and structural functions of striated muscle. For the …

Background Corticotropin-independent Cushing's syndrome is caused by tumors or
hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal …

Molecular techniques led to the discovery that several chromosome rearrangements
interpreted as terminal duplications were in fact inverted duplications contiguous to terminal …