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4. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Saitta SC; McGrath JM; Mensch H; Shaikh TH; Zackai EH; Emanuel BS Am J Hum Genet; 1999 Aug; 65(2):562-6. PubMed ID: 10417299 [No Abstract] [Full Text] [Related]
5. 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]
6. A novel atypical 22q11.2 distal deletion in father and son. Garcia-MiƱaur S; Fantes J; Murray RS; Porteous ME; Strain L; Burns JE; Stephen J; Warner JP J Med Genet; 2002 Oct; 39(10):E62. PubMed ID: 12362044 [No Abstract] [Full Text] [Related]
11. Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome. van Amelsvoort T; Daly E; Robertson D; Suckling J; Ng V; Critchley H; Owen MJ; Henry J; Murphy KC; Murphy DG Br J Psychiatry; 2001 May; 178():412-9. PubMed ID: 11331556 [TBL] [Abstract][Full Text] [Related]
12. [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]
13. Myopathy in a patient with chromosome 22q11 deletion. Mongini T; Doriguzzi C; Arduino C; Brusco A; Bortolotto S; Mutani R; Palmucci L Neuropediatrics; 2001 Apr; 32(2):107-9. PubMed ID: 11414642 [No Abstract] [Full Text] [Related]
14. Absence of a del(22q11) in a patient with the 3C (craniocerebellocardiac) syndrome. Saraiva JM; Matoso E; Marques I J Med Genet; 1998 Apr; 35(4):347-8. PubMed ID: 9598739 [No Abstract] [Full Text] [Related]
15. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Sandrin-Garcia P; Abramides DV; Martelli LR; Ramos ES; Richieri-Costa A; Passos GA Mol Cell Biochem; 2007 Sep; 303(1-2):9-17. PubMed ID: 17426930 [TBL] [Abstract][Full Text] [Related]
16. Language skills in children with velocardiofacial syndrome (deletion 22q11.2). Glaser B; Mumme DL; Blasey C; Morris MA; Dahoun SP; Antonarakis SE; Reiss AL; Eliez S J Pediatr; 2002 Jun; 140(6):753-8. PubMed ID: 12072882 [TBL] [Abstract][Full Text] [Related]
17. Congenital glaucoma associated with 22p+ variant in a dysmorphic child. Mandal AK; Prabhakara K; Reddy AB; Devi AR; Panicker SG Indian J Ophthalmol; 2003 Dec; 51(4):355-7. PubMed ID: 14750628 [TBL] [Abstract][Full Text] [Related]
18. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Ravnan JB; Chen E; Golabi M; Lebo RV Am J Med Genet; 1996 Dec; 66(3):250-6. PubMed ID: 8985481 [TBL] [Abstract][Full Text] [Related]
19. A comprehensive analysis of 22q11 gene expression in the developing and adult brain. Maynard TM; Haskell GT; Peters AZ; Sikich L; Lieberman JA; LaMantia AS Proc Natl Acad Sci U S A; 2003 Nov; 100(24):14433-8. PubMed ID: 14614146 [TBL] [Abstract][Full Text] [Related]
20. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Berend SA; Spikes AS; Kashork CD; Wu JM; Daw SC; Scambler PJ; Shaffer LG Am J Med Genet; 2000 Apr; 91(4):313-7. PubMed ID: 10766989 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]