PHYSICAL FUNCTION IN INDIVIDUALS WITH DIGEORGE SYNDROME [PDF]
, 2014 This preliminary study was conducted to assess physical function in individuals with DiGeorge syndrome, also known as velo-cardio-facial syndrome, as compared to healthy individuals.
Stroud, Brandi +5 more
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, 2017 IMSP IMC, Departamentul Pediatrie, Universitatea de Stat de Medicină și Farmacie „Nicolae Testemițanu”, Conferința Științifică cu participare internațională ”Imunitatea copilului și imunodeficiențele primare” în cadrul Proiectului Academiei de Științe a ...
Șciuca, Svetlana +3 more
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Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.
PLoS GeneticsThe most frequent and unique features of Down syndrome (DS) are learning disability and craniofacial (CF) dysmorphism. The DS-specific CF features are an overall reduction in head dimensions (microcephaly), relatively wide and broad neurocranium ...
José Tomás Ahumada Saavedra +3 more
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Investigation of DiGeorge syndrome (22q11.2 deletion): clinical and immunological characteristics. [PDF]
PediatrijaVeselības aprūpePediatricsHealth CareDiDžordži sindroms ir primārs imūndeficīts, ko bieži izraisa 22q11.2 delēcija. DiDžordži sindroms bieži vien ir saistīts ar de novo 22q11.2 hromosomas delēciju.
Anastasija Ignatoviča
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DiGeorge Syndrome With Absence of Speech: A Rare Case. [PDF]
Cureus, 2023 Jayaprakasan SK +5 more
europepmc +1 more source
Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome. [PDF]
Healthcare (Basel), 2023 Gorelova M +4 more
europepmc +1 more source
Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. [PDF]
Int J Mol Sci, 2023 Menghi M +11 more
europepmc +1 more source
Psychophysiological aspects in DiGeorge syndrome: psychotic risk and ERPs correlates [PDF]
, 2014 Introduction: The 22q11.2 deletion syndrome (Velocardiofacial/DiGeorge syndrome; 22qDS) is aneurogenetic disorder resulting from a hemizygous deletion.
FATTAPPOSTA, FRANCESCO +9 more
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Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome. [PDF]
Commun Biol, 2023 Chan CH +10 more
europepmc +1 more source
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion
The Turkish Journal of Pediatrics, 2004 Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less
Mustafa Akçakuş +7 more
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