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searching for DiGeorge syndrome 17 found (124 total)

GNB1L (577 words) [view diff] exact match in snippet view article find links to article

gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome

TBX1 (903 words) [view diff] exact match in snippet view article find links to article

PMID 7920656. S2CID 32296875. Jerome LA, Papaioannou VE (March 2001). "DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1". Nature Genetics

GATA3 (3,740 words) [view diff] exact match in snippet view article find links to article

disorder DiGeorge syndrome/velocardiofacial syndrome complex 2 (or DiGeorge syndrome 2). Large-scale deletions in GATA3 may span into the DiGeorge syndrome 2

ZNF74 (801 words) [view diff] exact match in snippet view article find links to article

(1994). "Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome". Hum. Mol. Genet. 2 (10): 1583–7. doi:10.1093/hmg/2.10.1583. PMID 8268910

Interpeduncular nucleus (699 words) [view diff] exact match in snippet view article find links to article

PMID 2424555. Funato, Hiromasa (2010), Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation

Drosha (2,058 words) [view diff] exact match in snippet view article find links to article

PMID 15574589. Landthaler M, Yalcin A, Tuschl T (December 2004). "The human DiGeorge syndrome critical region gene 8 and Its D. melanogaster homolog are required

Hypoparathyroidism (1,629 words) [view diff] exact match in snippet view article find links to article

components of chromosome 22q11 microdeletion syndrome (other names: DiGeorge syndrome, Schprintzen syndrome, velocardiofacial syndrome). Magnesium deficiency

SEPT5 (1,358 words) [view diff] exact match in snippet view article find links to article

human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11". Human Genetics. 101 (1): 6–12. doi:10.1007/s004390050576

DVL1 (1,276 words) [view diff] exact match in snippet view article find links to article

the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome". Am. J. Hum. Genet. 58 (4): 722–9. PMC 1914677. PMID 8644734. Steitz

RANBP1 (1,196 words) [view diff] exact match in snippet view article find links to article

Haskell GT, Bhasin N, et al. (2002). "RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction"

Tricarboxylate transport protein, mitochondrial (2,014 words) [view diff] exact match in snippet view article find links to article

mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region". Genomics. 29 (2): 451–6. doi:10.1006/geno.1995.9982

Neonatal hypocalcemia (673 words) [view diff] case mismatch in snippet view article find links to article

hypoparathyroidism of newborn Hypoparathyroidism due to other causes (DiGeorge Syndrome) Vuralli, Dogus (2019-06-19). "Clinical Approach to Hypocalcemia in

Low-carbon diet (3,791 words) [view diff] exact match in snippet view article find links to article

William (2006). "Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?". Nutrition Journal. 5: 1. doi:10.1186/1475-2891-5-1

Regenerative medicine advanced therapy (1,371 words) [view diff] exact match in snippet view article find links to article

Enzyvant allogeneic cell therapy Thymus tissue Congenital athymia in DiGeorge syndrome ECT-001 ExCellThera allogeneic cell therapy Hematologic malignancies

Fertilysin (402 words) [view diff] exact match in snippet view article find links to article

hamster embryos. Aortic arch anomalies and the pathogenesis of the DiGeorge syndrome". The American Journal of Pathology. 118 (2): 179–193. PMC 1887872

Double aortic arch (2,231 words) [view diff] case mismatch in snippet view article find links to article

anomalies. However, the association with chromosome 22q11 deletion (DiGeorge Syndrome) implies that a genetic component is likely in certain cases. Esophageal

Short interspersed nuclear element (5,251 words) [view diff] case mismatch in snippet view article find links to article

are recognized and processed in the nucleus by the nuclear protein DiGeorge Syndrome Critical Region 8 (DGCR8) which recruits and associates with the Drosha