15 relations: American Journal of Human Genetics, Chromosome 9, Comparative genomic hybridization, Developmental disability, Epilepsy, Fluorescence in situ hybridization, Genetic disorder, Histone methyltransferase, Hypoplasia, Hypotonia, Journal of Medical Genetics, Microcephaly, Mitral insufficiency, Mosaic (genetics), Multiplex ligation-dependent probe amplification.
The American Journal of Human Genetics is a monthly peer-reviewed scientific journal in the field of human genetics.
Chromosome 9 is one of the 23 pairs of chromosomes in humans.
Comparative genomic hybridization is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared to a reference sample, without the need for culturing cells.
Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.
Epilepsy is a group of neurological disorders characterized by epileptic seizures.
Fluorescent in situ hybridization (FISH) is a molecular cytogenetic technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity.
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
Histone methyltransferases (HMT) are histone-modifying enzymes (e.g., histone-lysine N-methyltransferases and histone-arginine N-methyltransferases), that catalyze the transfer of one, two, or three methyl groups to lysine and arginine residues of histone proteins.
Hypoplasia (from Ancient Greek ὑπo- hypo-, "under" + πλάσις plasis, "formation"; adjective form hypoplastic) is underdevelopment or incomplete development of a tissue or organ.
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
The Journal of Medical Genetics is a peer-reviewed medical journal focusing on human genetics.
Microcephaly is a medical condition in which the brain does not develop properly resulting in a smaller than normal head.
Mitral insufficiency (MI), mitral regurgitation or mitral incompetence is a disorder of the heart in which the mitral valve does not close properly when the heart pumps out blood.
In genetics, a mosaic, or mosaicism, involves the presence of two or more populations of cells with different genotypes in one individual, who has developed from a single fertilized egg.
Multiplex ligation-dependent probe amplification (MLPA) is a variation of the multiplex polymerase chain reaction that permits amplification of multiple targets with only a single primer pair.