|1|Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. (23454892)
de la Morena M.T.... van Oers N.S.
|2|Treatable cause of ventricular dysfunction in DiGeorge syndrome. (24096847)
Awasthy N.... Khatri S.
|3|The core microprocessor component DiGeorge syndrome critical region 8 (DGCR8) is a nonspecific RNA-binding protein. (23893406)
Roth B.M.... Hennig M.
|4|Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. (22396765)
Zhou J.... Sucov H.M.
|5|Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. (19040613)
Eberle P.... GA1ngAPr T.
|6|Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome. (17694540)
Stanczak C.M.... McGhee S.
|7|Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: an eight-year follow-up. (18515186)
Daguindau N.... Bensoussan D.
|8|Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome). (17355478)
Van Aken K.... Swillen A.
|9|Complete DiGeorge syndrome associated with CHD7 mutation. (17931565)
Sanka M.... Dorsey M.J.
|10|Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. (17041934)
Brunet A.... Guitart M.
|11|antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). (16595601)
Nucera C.... Vermiglio F.
|12|Traffic of genetic information between segmental duplications flanking the typical 22q11.2 deletion in velo-cardio-facial syndrome/DiGeorge syndrome. (16251458)
Pavlicek A.... Morrow B.E.
|13|DiGeorge syndrome associated with solitary median maxillary central incisor. (16252847)
Yang H.C.... Lin M.T.
|14|Infant with esophageal atresia and tracheoesophageal fistula associated with DiGeorge syndrome. (15303257)
Morini F.... Pacilli M.
|15|Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. (15100681)
Markert M.L.... Skinner M.A.
|16|The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome. (12810603)
Bachiller D.... De Robertis E.M.
|17|Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome. (12891520)
Kilic S.S.... Dogruyol H.
|18|Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. (12563036)
Vermot J.... DollAc P.
|19|Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. (11242111)
Guris D.L.... Imamoto A.
|20|TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. (11239417)
Merscher S.... Kucherlapati R.
|21|High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2. (11589220)
Iida A.... Tanaka T.
|22|Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. (11412027)
Garg V.... Srivastava D.
|23|Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. (10637567)
Novelli G.... Dallapiccola B.
|24|Fatal aspergillosis with brain abscesses in a neonate with DiGeorge syndrome. (11144390)
Marcinkowski M.... Versmold H.
|25|DiGeorge syndrome: complex pathogenesis? Maybe, maybe not. (10637568)
|26|Thrombocytopenia after human herpesvirus-7 infection in a patient with DiGeorge syndrome. (10206468)
Sato A.... Ishizaki T.
|27|A novel 22q11.2 microdeletion in DiGeorge syndrome. (9973528)
Rauch A.... Hofbeck M.
|28|Ubiquitination gene defect found in DiGeorge syndrome. (10366814)
|29|DiGeorge syndrome: still an enigma. (9469991)
Parkman R.... Weinberg K.
|30|Features of DiGeorge syndrome and CHARGE association in five patients. (9429139)
de Lonlay-Debeney P.... Lyonnet S.
|31|Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). (9082929)
Sullivan K.E.... Keenan G.
|32|Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. (9407570)
Markert M.L.... Oldham K.
|33|A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome. (9605865)
Lindsay E.A.... Baldini A.
|34|Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. (8660975)
Goldmuntz E.... Budarf M.L.
|35|Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case. (8942031)
Liang C.D.... Chang W.C.
|36|Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (8703114)
Rizzu P.... Baldini A.
|37|Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. (7633403)
Demczuk S.... Aurias A.
|38|Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. (7670464)
Budarf M.L.... Emanuel B.S.
|39|Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. (7473663)
Van Hemel J.O.... Meijers J.H.
|40|A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. (1349199)
Driscoll D.A.... Emanuel B.S.
|41|Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11. (1617213)
Carey A.H.... Scambler P.J.
|42|A prospective cytogenetic study of 36 cases of DiGeorge syndrome. (1415264)
Wilson D.I.... Burn J.
|43|Ossification centre of the hyoid bone in DiGeorge syndrome and tetralogy of Fallot. (3790891)
Wells T.R.... Takahashi M.
|44|DiGeorge syndrome and 22q11 rearrangements. (3770751)
Augusseau S.... Prieur M.
|45|Severe combined immunodeficiencies, primary T-cell defects and DiGeorge syndrome in humans: characterization by monoclonal antibodies and natural killer cell activity. (6349883)
Sirianni M.C.... Aiuti F.
|46|A deletion in chromosome 22 can cause DiGeorge syndrome. (7250965)
de la Chapelle A.... Aula P.
|47|Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus). (7426208)
Moerman P.... Van der Hauwaert L.G.
|48|Familial thymic aplasia with intrauterine growth retardation and fetal death: a new syndrome or a variant of DiGeorge syndrome. (974247)
Shepard M.K.... Cavazos A.
|49|Immunologic reconstitution in the DiGeorge syndrome by fetal thymic transplant. (1148386)
Dodson W.E.... de la Cruz F.