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3. Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2? Wulfsberg EA Am J Med Genet; 1996 Aug; 64(3):523-4. PubMed ID: 8862634 [No Abstract] [Full Text] [Related]
4. A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome? Henwood J; Pickard C; Leek JP; Bennett CP; Crow YJ; Thompson JD; Ahmed M; Watterson KG; Parsons JM; Roberts E; Lench NJ J Med Genet; 2001 Aug; 38(8):533-6. PubMed ID: 11494964 [No Abstract] [Full Text] [Related]
5. DiGeorge syndrome with discordant phenotype in monozygotic twins. Hillebrand G; Siebert R; Simeoni E; Santer R J Med Genet; 2000 Sep; 37(9):E23. PubMed ID: 10978370 [No Abstract] [Full Text] [Related]
6. Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome. Bearden CE; Wang PP; Simon TJ Am J Med Genet; 2002 Aug; 114(6):689-92. PubMed ID: 12210289 [No Abstract] [Full Text] [Related]
7. Genetic basis of DiGeorge and velocardiofacial syndromes. Driscoll DA Curr Opin Pediatr; 1994 Dec; 6(6):702-6. PubMed ID: 7849818 [TBL] [Abstract][Full Text] [Related]
8. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Digilio MC; Giannotti A; Castro M; Colistro F; Ferretti F; Marino B; Dallapiccola B Am J Med Genet A; 2003 Sep; 121A(3):286-8. PubMed ID: 12923874 [No Abstract] [Full Text] [Related]
9. Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion. Stöllberger C; Finsterer J Am J Med Genet A; 2011 Mar; 155A(3):662-3; author reply 664-5. PubMed ID: 21337687 [No Abstract] [Full Text] [Related]
11. Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome. Pierpont JW; Erickson RP; Thompson FH; Yang JM Clin Genet; 1996 Dec; 50(6):545-7. PubMed ID: 9147896 [TBL] [Abstract][Full Text] [Related]
12. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Saitta SC; Harris SE; McDonald-McGinn DM; Emanuel BS; Tonnesen MK; Zackai EH; Seitz SC; Driscoll DA Am J Med Genet A; 2004 Jan; 124A(3):313-7. PubMed ID: 14708107 [TBL] [Abstract][Full Text] [Related]
13. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. McDonald-McGinn DM; LaRossa D; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Wang P; Solot C; Schultz P; Lynch D; Bingham P; Keenan G; Weinzimer S; Ming JE; Driscoll D; Clark BJ; Markowitz R; Cohen A; Moshang T; Pasquariello P; Randall P; Emanuel BS; Zackai EH Genet Test; 1997; 1(2):99-108. PubMed ID: 10464633 [TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects. Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279 [TBL] [Abstract][Full Text] [Related]
15. 22q11.2 duplications: Expanding the clinical presentation. Bartik LE; Hughes SS; Tracy M; Feldt MM; Zhang L; Arganbright J; Kaye A Am J Med Genet A; 2022 Mar; 188(3):779-787. PubMed ID: 34845825 [TBL] [Abstract][Full Text] [Related]
16. Tricuspid atresia and 22q11 deletion. Marino B; Digilio MC; Novelli G; Giannotti A; Dallapiccola B Am J Med Genet; 1997 Oct; 72(1):40-2. PubMed ID: 9295072 [TBL] [Abstract][Full Text] [Related]
17. Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. Katzman PJ; Smoot LB; Cox GF Pediatr Dev Pathol; 2006; 9(4):266-79. PubMed ID: 16944986 [TBL] [Abstract][Full Text] [Related]
18. Bernard-Soulier syndrome associated with 22q11.2 deletion and clinical features of DiGeorge/velocardiofacial syndrome. Souto Filho JTD; Ribeiro HAA; Fassbender IPB; Ribeiro JMMC; Ferreira Júnior WDS; Figueiredo LCS Blood Coagul Fibrinolysis; 2019 Dec; 30(8):423-425. PubMed ID: 31738289 [TBL] [Abstract][Full Text] [Related]
19. [Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome]. Hjalgrim H; Hahnemann JM; Timshel S; Brøndum-Nielsen K Ugeskr Laeger; 2000 Jul; 162(31):4169-70. PubMed ID: 10962926 [No Abstract] [Full Text] [Related]