Sentences with word «microdeletion»

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans.

The two committees also addressed emerging advances in NIPT technology that would allow testing for additional genetic conditions, such as rare microdeletion syndromes and syndromes that interfere with sexual development.

Association between microdeletion and microduplication at 16p11.2 and autism.

DEVELOPMENT OF NON-INVASIVE PRENATAL DIAGNOSTIC TEST FOR MICRODELETION / MICRODUPLICATION AND OTHER GENETIC DISORDRS BASED ON FETAL DNA ISOLATED FROM MATERNAL BLOOD.

Large recurrent microdeletions associated with schizophrenia.

Scientists used CRISPR - Cas9 to shed light on why people with 15q13.3 microdeletion syndrome — a rare human genetic disorder — are more likely to develop brain disorders like autism spectrum disorder, epilepsy and schizophrenia (Karun K. Singh, abstract 103.05, see attached summary).

The cover image was created using images of neural rosettes derived from human iPSCs with and without a 15q11.2 microdeletion (round circles) and images of radial glial cells in the developing mouse cortex (thin filaments), and it is inspired by July 4th fireworks.

«When it became clear that Williams Syndrome is caused by a microdeletion of genes, we could start looking at smaller and smaller gene deletions to study their effect on social behavior.»

285/5: 00 The Koolen - de Vries syndrome: A phenotypic comparison of microdeletion and point mutation patients.