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2. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Driscoll DA; Spinner NB; Budarf ML; McDonald-McGinn DM; Zackai EH; Goldberg RB; Shprintzen RJ; Saal HM; Zonana J; Jones MC Am J Med Genet; 1992 Sep; 44(2):261-8. PubMed ID: 1360769 [TBL] [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. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Kelly D; Goldberg R; Wilson D; Lindsay E; Carey A; Goodship J; Burn J; Cross I; Shprintzen RJ; Scambler PJ Am J Med Genet; 1993 Feb; 45(3):308-12. PubMed ID: 8434616 [TBL] [Abstract][Full Text] [Related]
5. Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region. Nickel RE; Pillers DA; Merkens M; Magenis RE; Driscoll DA; Emanuel BS; Zonana J Eur J Pediatr Surg; 1993 Dec; 3 Suppl 1():27-8. PubMed ID: 8130147 [No Abstract] [Full Text] [Related]
6. 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]
7. 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]
8. The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia. Stoffel M; Karayiorgou M; Espinosa R; Beau MM Hum Genet; 1996 Jul; 98(1):113-5. PubMed ID: 8682495 [TBL] [Abstract][Full Text] [Related]
9. Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. Lindsay EA; Goldberg R; Jurecic V; Morrow B; Carlson C; Kucherlapati RS; Shprintzen RJ; Baldini A Am J Med Genet; 1995 Jul; 57(3):514-22. PubMed ID: 7677167 [TBL] [Abstract][Full Text] [Related]
10. CATCH 22. Hall JG J Med Genet; 1993 Oct; 30(10):801-2. PubMed ID: 8230153 [No Abstract] [Full Text] [Related]
11. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. Nickel RE; Pillers DA; Merkens M; Magenis RE; Driscoll DA; Emanuel BS; Zonana J Am J Med Genet; 1994 Oct; 52(4):445-9. PubMed ID: 7747757 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Goosecoid-like sequences and the smallest region of deletion overlap in DiGeorge and velocardiofacial syndromes. Pragliola A; Jurecic V; Chau CK; Philip N; Baldini A Am J Hum Genet; 1997 Dec; 61(6):1456-9. PubMed ID: 9399910 [No Abstract] [Full Text] [Related]
14. DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes. Crifasi PA; Michels VV; Driscoll DJ; Jalal SM; Dewald GW Mayo Clin Proc; 1995 Dec; 70(12):1148-53. PubMed ID: 7490915 [TBL] [Abstract][Full Text] [Related]
15. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Li M; Zackai EH; Niikawa N; Kaplan P; Driscoll DA Am J Med Genet; 1996 Oct; 65(2):101-3. PubMed ID: 8911598 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183). Mulder MP; Wilke M; Langeveld A; Wilming LG; Hagemeijer A; van Drunen E; Zwarthoff EC; Riegman PH; Deelen WH; van den Ouweland AM Hum Genet; 1995 Aug; 96(2):133-41. PubMed ID: 7635459 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study. Friedman MA; Miletta N; Roe C; Wang D; Morrow BE; Kates WR; Higgins AM; Shprintzen RJ Int J Pediatr Otorhinolaryngol; 2011 Sep; 75(9):1167-72. PubMed ID: 21763005 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]