Results 131 to 140 of about 16,672 (213)

Prenatal Diagnosis of Digeorge Syndrome

Taiwanese Journal of Obstetrics & Gynecology, 2008
Ümit Göktolga, Kazim Gezginç, S. Temel Ceyhan, Ulaş Fidan, Ali Ergün, Muhterem Bahçe, Iskender Başer   +6 more
doaj   +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

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

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

Deletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers [PDF]

, 2014

core   +1 more source

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

DiGeorge syndrome critical region gene 2 (DGCR2), a schizophrenia risk gene, regulates dendritic spine development through cell adhesion. [PDF]

Cell Biosci, 2023
Ren D, Luo B, Chen P, Yu L, Xiong M, Fu Z, Zhou T, Chen WB, Fei E.   +8 more
europepmc   +1 more source

When echocardiography fails: Fatal <i>Staphylococcus aureus</i> endocarditis of a right ventricle-pulmonary artery conduit in an adult with DiGeorge syndrome (Lessons from a delayed PET/CT diagnosis). [PDF]

IDCases
Youssef L, Ahchouch S, Ait Sahel O, Benssied A, Bennani N, Mouine N, Bamous M, Moutakiallahf Y, Doudouh A, Benyass A, Chaib A.   +10 more
europepmc   +1 more source

Camptodactyly and DiGeorge syndrome: A rare hand anomaly. [PDF]

JPRAS Open, 2021
Hurley CM, McHugh N, Carr S, Kelly JL.
europepmc   +1 more source