Rearrangements of our genome can be responsible for inherited as well as sporadic traits.
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 …

Genomic disorders are a group of human genetic diseases caused by genomic
rearrangements resulting in copy-number variation (CNV) affecting a dosage-sensitive gene …

In mammals, toxic electrolytes of endogenous and exogenous origin are excreted through
the urine and bile. Before excretion, these compounds cross numerous cellular membranes …

Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving
chromosome 2q37. BDMR presents with a range of features, including intellectual …

The duplication 17p11. 2 syndrome, associated with dup (17)(p11. 2p11. 2), is a recently
recognized syndrome of multiple congenital anomalies and mental retardation and is the …

Bipolar disorder is a common, complex genetic disorder, but the mode of transmission
remains to be discovered. Many researchers assume that common genomic variants carry …

Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by
haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11. 2 …

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive
physical features, developmental delay, cognitive impairment, and a typical behavioral …

Abstract Purpose Smith-Magenis syndrome (SMS) is a complex disorder that includes
mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We …

Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …