نتایج جستجو برای: digeorge syndrome

تعداد نتایج: 621981  

Journal: :Journal of medical genetics 1993
J Burn A Takao D Wilson I Cross K Momma R Wadey P Scambler J Goodship

The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart. The authors subsequently noted similarities to Shprintzen syndrome and DiGeorge syndrome. Chromosome analysis in five cases did not show a deletion at high resolution, but fluorescent in situ hybridisation using probe DO832 show...

Journal: :The American Journal of Human Genetics 1999

Journal: :Acta Scientific Nutritional Health 2019

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2003
Julien Vermot Karen Niederreither Jean-Marie Garnier Pierre Chambon Pascal Dollé

Retinoic acid (RA), the active derivative of vitamin A, is involved in various developmental and homeostatic processes. To define whether certain developmental events are particularly sensitive to a decrease in embryonic RA levels, we generated mice bearing a hypomorphic allele of the RA-synthesizing enzyme Raldh2. The resulting mutant mice, which die perinatally, exhibit the features of the hu...

Journal: :Stem Cell Research 2021

DiGeorge Syndrome (DGS) Critical Region 8 (DGCR8) is a primary candidate gene in they DGS. The DGCR8 microprocessor complex subunit an essential cofactor the canonical miRNA biogenesis which involved diverse cellular functions such as cell fate decisions, apoptosis and different signaling pathways. However, role of these processes or development DGS not fully understood. Here we present heteroz...

Journal: :Journal of Pediatric Neurosciences 2017

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