[HTML][HTML] Craniofacial phenotypes and genetics of DiGeorge syndrome

N Funato - Journal of Developmental Biology, 2022 - mdpi.com
… features of DGS/VCFS, including craniofacial phenotypes. Despite the frequency of DGS/…
of the craniofacial phenotypes of DGC/VCFS. This review focuses on these phenotypes and …

Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

DM McDonald-McGinn, KE Sullivan - Medicine, 2011 - journals.lww.com
… of phenotypic features, including velocardiofacial syndrome, cardiofacial syndrome, and
conotruncal anomaly face syndrome. … of DiGeorge syndrome or minimal phenotypic features. …

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11. 2 deletion syndromes

LJ Kobrynski, KE Sullivan - The Lancet, 2007 - thelancet.com
… Most patients with a clinical phenotype of velocardiofacial syndrome or DiGeorge … Patients
with features of velocardiofacial syndrome or DiGeorge syndrome who have deletions of …

Deletion 22q11. 2 (velo‐cardio‐facial syndrome/DiGeorge syndrome)

DM McDonald‐McGinn, S Jeong… - … Genetic Syndromes, 2021 - Wiley Online Library
… heart disease and TBX1, other examples of genotype–phenotype … Additional craniofacial
anomalies that may result in an … craniofacial features of the 22q11.2 deletion syndrome that …

DiGeorge Syndrome

E Cirillo, G Giardino, F Grasso, V Gallo… - Genetic Syndromes: A …, 2022 - Springer
… knowledge of the phenotype, which now includes over 200 different phenotypic features. The
… of cNCCs, as well as the proliferation of dental progenitor cells and craniofacial structures …

Genetic modifiers of the physical malformations in velo‐cardio‐facial syndrome/DiGeorge syndrome

VS Aggarwal, BE Morrow - Developmental disabilities research …, 2008 - Wiley Online Library
… mild craniofacial defects and learning disabilities. Stochastic, environmental and genetic factors
likely modify the phenotype… results in a DiGeorge syndrome phenotype in newborn mice. …

The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1

I Papangeli, P Scambler - Wiley Interdisciplinary Reviews …, 2013 - Wiley Online Library
… of phenotypes that receive a diagnosis of DiGeorge syndrome or velocardiofacial syndrome.
… , and craniofacial malformation. A limitation of the Tbx1 mouse mutants as a model for the …

22q11. 2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes

BF Cuneo - Current opinion in pediatrics, 2001 - journals.lww.com
… found in most patients with velocardiofacial syndrome, DiGeorge syndrome, and conotruncal
anomaly face … The phenotypic spectrum of the 10p deletion syndrome versus the classical …

DiGeorge syndrome and pharyngeal apparatus development

H Wurdak, LM Ittner, L Sommer - Bioessays, 2006 - Wiley Online Library
… rise to endocrine glands, craniofacial tissue, and the cardiac … a phenotype resembling
DiGeorge syndrome has revealed … complete DiGeorge syndrome-like phenotype with craniofacial

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

J Liao, L Kochilas, S Nowotschin… - Human molecular …, 2004 - academic.oup.com
… and mild craniofacial anomalies including submucous cleft palate, occurring with phenotypic
… To determine whether overexpression of TBX1 was responsible for the phenotype in BAC …