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3. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11. Funke B; Edelmann L; McCain N; Pandita RK; Ferreira J; Merscher S; Zohouri M; Cannizzaro L; Shanske A; Morrow BE Am J Hum Genet; 1999 Mar; 64(3):747-58. PubMed ID: 10053009 [TBL] [Abstract][Full Text] [Related]
4. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Edelmann L; Pandita RK; Morrow BE Am J Hum Genet; 1999 Apr; 64(4):1076-86. PubMed ID: 10090893 [TBL] [Abstract][Full Text] [Related]
5. 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]
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]
9. Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. Sirotkin H; Morrow B; Saint-Jore B; Puech A; Das Gupta R; Patanjali SR; Skoultchi A; Weissman SM; Kucherlapati R Genomics; 1997 Jun; 42(2):245-51. PubMed ID: 9192844 [TBL] [Abstract][Full Text] [Related]
10. Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Demczuk S; Lévy A; Aubry M; Croquette MF; Philip N; Prieur M; Sauer U; Bouvagnet P; Rouleau GA; Thomas G Hum Genet; 1995 Jul; 96(1):9-13. PubMed ID: 7607662 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. Identification of a new human catenin gene family member (ARVCF) from the region deleted in velo-cardio-facial syndrome. Sirotkin H; O'Donnell H; DasGupta R; Halford S; St Jore B; Puech A; Parimoo S; Morrow B; Skoultchi A; Weissman SM; Scambler P; Kucherlapati R Genomics; 1997 Apr; 41(1):75-83. PubMed ID: 9126485 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]