1p36 deletion syndrome is one of the most common subtelomeric microdeletion disorders, occurring in approximately 1 in 5,000 to 10,000 live births. This chromosomal abnormality results in a broad ...
22q11.2 Deletion Syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder, arising chiefly from de novo non-homologous meiotic recombination events. This condition presents with a ...
Researchers have revealed a novel association between chromosome 18q deletion syndrome and late-onset combined immunodeficiency (LOCID). Their finding challenges the previously held notion that 18q ...
Researchers have identified a promising strategy to improve memory and brain cell function in models of 22q11.2 Deletion Syndrome. The study, published in eLife, shows that reducing the levels of the ...
SALT LAKE CITY, April 16, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced that Prenatal Diagnosis has published a ...
PLYMOUTH MEETING, Pa., Dec. 5, 2023 /PRNewswire/ -- Harmony Biosciences Holdings, Inc. ("Harmony" or the "Company") (Nasdaq: HRMY), a pharmaceutical company dedicated to developing and commercializing ...
You might know that some prenatal tests screen for Down syndrome and other chromosomal disorders, but you may not have heard of microdeletions. This type of chromosomal disorder is more common than ...
Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...
Tokyo Medical and Dental University (TMDU) researchers have discovered that patients with 18q deletion syndrome can experience both cellular and humoral immunodeficiency Tokyo, Japan – Chromosome 18q ...
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