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2. Renal malformations in deletion 22q11.2 patients. Kujat A; Schulz MD; Strenge S; Froster UG Am J Med Genet A; 2006 Jul; 140(14):1601-2. PubMed ID: 16761295 [No Abstract] [Full Text] [Related]
3. 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]
4. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. Sergi C; Serpi M; Müller-Navia J; Schnabel PA; Hagl S; Otto HF; Ulmer HE Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461 [TBL] [Abstract][Full Text] [Related]
5. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. McDonald-McGinn DM; Kirschner R; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Solot C; Wang P; Jacobs I; Handler S; Knightly C; Heher K; Wilson M; Ming JE; Grace K; Driscoll D; Pasquariello P; Randall P; Larossa D; Emanuel BS; Zackai EH Genet Couns; 1999; 10(1):11-24. PubMed ID: 10191425 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome]. Pusceddu M; Bertone A; Campra D; Pontoriero D; Guala A Minerva Pediatr; 2002 Aug; 54(4):343-5. PubMed ID: 12131871 [No Abstract] [Full Text] [Related]
9. 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]
11. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly]. Sun JQ; Wang LS; Qi CH; Ying WJ; Guo XH; Liu DR; Hui XY; Liu F; Cao Y; Luo FH; Wang XC Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):944-7. PubMed ID: 23324155 [TBL] [Abstract][Full Text] [Related]
12. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018 [TBL] [Abstract][Full Text] [Related]
13. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Sullivan KE; Jawad AF; Randall P; Driscoll DA; Emanuel BS; McDonald-McGinn DM; Zackai EH Clin Immunol Immunopathol; 1998 Feb; 86(2):141-6. PubMed ID: 9473376 [TBL] [Abstract][Full Text] [Related]
14. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. Hou JW; Wang JK; Tsai WY; Chou CC; Wang TR J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164 [TBL] [Abstract][Full Text] [Related]
15. Anatomic patterns of conotruncal defects associated with deletion 22q11. Marino B; Digilio MC; Toscano A; Anaclerio S; Giannotti A; Feltri C; de Ioris MA; Angioni A; Dallapiccola B Genet Med; 2001; 3(1):45-8. PubMed ID: 11339377 [TBL] [Abstract][Full Text] [Related]