Results 111 to 120 of about 1,144,251 (159)

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints. [PDF]

Genes (Basel)
Papageorgiou L, Nikolopoulou E, Koniari E, Hatziagapiou K, Chaniotis D, Beloukas A, Chrousos GP, Eliopoulos E, Thireou T.   +8 more
europepmc   +1 more source

Fever of Unknown Origin Reveals a Missed Diagnosis of DiGeorge Syndrome in a 21-Year-Old Female. [PDF]

Cureus, 2022
Welch NL, Selman A, Songtanin B, Tarbox JA.   +3 more
europepmc   +1 more source

PHYSICAL FUNCTION IN INDIVIDUALS WITH DIGEORGE SYNDROME

, 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, Salem, Yasser, Perez, Rebecca, Liu, Hao (Howe), Ditthakasem, Kanlaya, Altuna, Dianne   +5 more
core  

Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study. [PDF]

Orphanet J Rare Dis
Liebling E, Freychet C, Guarnieri V, Jelusic M, López JA, Kallinich T, Montin D, McCann LJ, Bader-Meunier B, Crowley TB, Lemelle I, McDonald-McGinn D, Serrano M, Stephan JL, Azzari C, Simonini G, Giani T.   +16 more
europepmc   +1 more source

Right-Sided Aortic Arch Presenting as Chronic Cough in a 50-Year-Old Patient With DiGeorge Syndrome: A Report of a Rare Case. [PDF]

Cureus
Wahidy J, Longley S, Anwar MZ, DiVittorio A.   +3 more
europepmc   +1 more source

Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features. [PDF]

Front Pediatr, 2022
Gu H, Mou W, Chen Z, Xie X, Yao J, Zhang R, Wu R, Gui J.   +7 more
europepmc   +1 more source

Investigation of DiGeorge syndrome (22q11.2 deletion): clinical and immunological characteristics.

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
core  

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort. [PDF]

J Clin Immunol
Süleyman M, Cagdas D, Kiper PÖŞ, Ütine GE, Çavdar MK, Tezcan Fİ.   +5 more
europepmc   +1 more source

A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome. [PDF]

Dis Model Mech, 2022
Lania G, Lania G, Franzese M, Adachi N, Bilio M, Flore G, Russo A, D'Agostino E, Angelini C, Kelly RG, Baldini A.   +10 more
europepmc   +1 more source

Chronic granulomatous herpes simplex encephalitis in a child with digeorge syndrome- expanding the spectrum of herpes-associated neurological disease. [PDF]

BMC Infect Dis
Kewalramani DA, Kanagavel Y, Krishnaswamy V, Ravichandran L, Cruz LD, Ramanan PV, Mohan R, Manokaran DRK.   +7 more
europepmc   +1 more source