Results 91 to 100 of about 1,144,251 (159)

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.

PLoS Genetics
The 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, Claire Chevalier, Agnes Bloch Zupan, Yann Herault   +3 more
doaj   +1 more source

Failure of immunologic reconstitution in a patient with the DiGeorge syndrome after fetal thymus transplantation

, 1979
Transplantation of two fetal thymuses failed to reconstitute the immune function in a patient with the DiGeorge syndrome. Serum thymic hormones (facteur thymique serique and thymopoietin), which had been nondetectable, became normal after thymus ...
Smithwick, Elizabeth, Pahwa, Rajendra, Good, Robert A, O'Reilly, Richard, Pahwa, Savita, Reece, Elena, Incefy, Genevieve   +6 more
core   +1 more source

DiGeorge Syndrome With Absence of Speech: A Rare Case. [PDF]

Cureus, 2023
Jayaprakasan SK, Nageye ME, Siddiqui A, Suero G, Pimentel Campillo J, Holder SS.   +5 more
europepmc   +1 more source

A PRENATALLY SONOGRAPHICALLY DIAGNOSED CONOTRUNCAL ANOMALY WITH MOSAIC TYPE TRISOMY 21 AND 22q11.2 MICRODELETION/DIGEORGE SYNDROME

, 2009
A prenatally sonographically diagnosed conotruncal anomaly with mosaic ope trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly.
Balci, S., Altugan, F. S., Baltaci, V., Alehan, D., Aypar, E.   +4 more
core  

Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome. [PDF]

Healthcare (Basel), 2023
Gorelova M, Rysankova K, Donin G, Kneppo P, Rogalewicz V.   +4 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, Tamer Güneş, Selim Kurtoğlu, Neşide Cetin, Yusuf Ozkul, Nazmi Narin, Mehmet Emre Atabek, Remzi Uğraş   +7 more
doaj  

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. [PDF]

Int J Mol Sci, 2023
Menghi M, Micangeli G, Tarani F, Putotto C, Pirro F, Mariani A, Petrella C, Pulvirenti F, Cinicola B, Colloridi F, Tarani L, Fiore M.   +11 more
europepmc   +1 more source

Síndrome de DiGeorge. Tratamiento anestésico

, 2017
El síndrome de delección 22q11.2 es un cuadro de anomalía del desarrollo, caracterizado por una microdelección de tres megabases en el cromosoma 22q11. Este problema se asocia a una variedad de fenotipos clínicos, entre ellos, el síndrome de DiGeorge, el
Bellas, Soledad, Sepúlveda, Ana, Marín, Felisa   +2 more
core  

Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome. [PDF]

Commun Biol, 2023
Chan CH, Lam YY, Wong N, Geng L, Zhang J, Ahola V, Zare A, Li RA, Lanner F, Keung W, Cheung YF.   +10 more
europepmc   +1 more source

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. [PDF]

Curr Allergy Asthma Rep, 2023
Biggs SE, Gilchrist B, May KR.
europepmc   +1 more source