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5. 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]
6. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Adachi M; Tachibana K; Masuno M; Makita Y; Maesaka H; Okada T; Hizukuri K; Imaizumi K; Kuroki Y; Kurahashi H; Suwa S Eur J Pediatr; 1998 Jan; 157(1):34-8. PubMed ID: 9461360 [TBL] [Abstract][Full Text] [Related]
7. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients. Borgmann S; Luhmer I; Arslan-Kirchner M; Kallfelz HC; Schmidtke J Eur J Pediatr; 1999 Dec; 158(12):958-63. PubMed ID: 10592069 [TBL] [Abstract][Full Text] [Related]
8. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Driscoll DA; Salvin J; Sellinger B; Budarf ML; McDonald-McGinn DM; Zackai EH; Emanuel BS J Med Genet; 1993 Oct; 30(10):813-7. PubMed ID: 8230155 [TBL] [Abstract][Full Text] [Related]
9. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome. Brunet A; Gabau E; Perich RM; Valdesoiro L; Brun C; Caballín MR; Guitart M Am J Med Genet A; 2006 Nov; 140(22):2426-32. PubMed ID: 17041934 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis]. Kaltenboeck A; Friedrich F; Hinterbuchinger B; Litvan Z; Mossaheb N Neuropsychiatr; 2016 Dec; 30(4):223-226. PubMed ID: 27822729 [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. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions. Bonnet D; Cormier-Daire V; Kachaner J; Szezepanski I; Souillard P; Sidi D; Munnich A; Lyonnet S Am J Med Genet; 1997 Jan; 68(2):182-4. PubMed ID: 9028455 [TBL] [Abstract][Full Text] [Related]
14. [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome]. Demily C; Rossi M; Schneider M; Edery P; Leleu A; d'Amato T; Franck N; Eliez S Encephale; 2015 Jun; 41(3):266-73. PubMed ID: 25523123 [TBL] [Abstract][Full Text] [Related]
15. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. Goldmuntz E; Driscoll D; Budarf ML; Zackai EH; McDonald-McGinn DM; Biegel JA; Emanuel BS J Med Genet; 1993 Oct; 30(10):807-12. PubMed ID: 7901419 [TBL] [Abstract][Full Text] [Related]
16. [Microdeletion 22q11: apropos of case of schizophrenia in an adolescent]. Pinquier C; Héron D; de Carvalho W; Lazar G; Mazet P; Cohen D Encephale; 2001; 27(1):45-50. PubMed ID: 11294038 [TBL] [Abstract][Full Text] [Related]
17. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. De Silva D; Duffty P; Booth P; Auchterlonie I; Morrison N; Dean JC Clin Dysmorphol; 1995 Oct; 4(4):294-303. PubMed ID: 8574419 [TBL] [Abstract][Full Text] [Related]
18. Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion. Greig F; Paul E; DiMartino-Nardi J; Saenger P J Pediatr; 1996 Apr; 128(4):563-7. PubMed ID: 8618195 [TBL] [Abstract][Full Text] [Related]
19. Psychiatric inpatients and chromosome deletions within 22q11.2. Sugama S; Namihira T; Matsuoka R; Taira N; Eto Y; Maekawa K J Neurol Neurosurg Psychiatry; 1999 Dec; 67(6):803-6. PubMed ID: 10567504 [TBL] [Abstract][Full Text] [Related]