Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal
testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal …

Phelan-McDermid syndrome (PMS) is characterized by a variety of clinical symptoms with
heterogeneous degrees of severity, including intellectual disability (ID), absent or delayed …

Background The clinical significance of 16p13.11 duplications remains controversial while
frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or …

Upregulation of the telomerase reverse transcriptase (TERT) gene in human cancers leads
to telomerase activation, which contributes to the growth advantage and survival of tumor …

Objective The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions.
We performed a collaborative, retrospective analysis in France of prenatal diagnoses and …

Background/Objectives: Although there is strong evidence implicating genetic factors in
congenital diaphragmatic hernia (CDH) pathogenesis, few causal genes have been identified. …

Purpose: Genetic instability plays an important role in ovarian carcinogenesis. We investigated
the level of telomere shortening and genomic instability in early and preinvasive stages …

In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement
in subnuclear domains called chromosome territories (CTs). Whereas chromosome …

This study investigates the morphological and molecular changes that occur in the inner
hair cell area of the rat cochlea following aminoglycoside treatment. Rats were injected daily …

Microdeletions of 17q12 encompassing TCF2 are associated with maturity‐onset of diabetes
of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females …