Patients with classic NF1 including the presence of cutaneous neurofibromas or Lisch nodules, as no genetic heterogeneity demonstrated so far associated with this phenotype. The NF1-only by NGS ...

Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

The banding pattern technique with densitometric evaluation revealed duplication of the short arm of chromosome No. 7 associated with pericentric inversion of chromosome No. 2 in a case where, prior ...

A team of researchers has developed a computational tool for analyzing genetic changes related to the immune system. With this new development, the onset of many autoimmune diseases, such as multiple ...

Please provide your email address to receive an email when new articles are posted on . The mean effect of 16p11.2 duplication on cognition was similar to that of reciprocal deletion; however, ...