| 1 | DEL22q11, TBX1, VCF
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| A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.
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| Funato N, Heliövaara A, Boeckx C.
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| Am J Hum Genet. May 2;111(5):939-953. doi: 10.1016/j.ajhg.2024.03.012. Epub 2024 Apr 11. 2024
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| 2 | DEL22q11, TBX1, VCF
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| TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis
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| Funato N, Srivastava D, Shibata S, Yanagisawa H.
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| J Dent Res. Sep;99(10):1182-1191. doi: 10.1177/0022034520925080. Epub 2020 May 22. 2020
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| 3 | DEL22Q11, VCF
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| 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia.
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| Karayiorgou M, Simon TJ, Gogos JA.
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| Nat Rev Neurosci 11(6):402-16. Review.PMID: 20485365 2010
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| 4 | DEL22Q11, PRODH, HPI, VCF, COMT
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| Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
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| Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Breviere GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gerard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D.
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| Hum Mol Genet 16(1):83-91. Epub 2006 Nov 29. 2007
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| 5 | TBX1, VCF, DEL22Q11
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| Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions.
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| Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A.
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| Am J Hum Genet 80(3):510-7. Epub 2007 Jan 18. 2007
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| 6 | FAM58B, VCF, HPI, COMT, PRODH
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| KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers.
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| Corson TW, Huang A, Tsao MS, Gallie BL.
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| Oncogene 24(30):4741-53. 2005
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| 7 | VCF
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| Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.
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| Gothelf D, Presburger G, Zohar AH, Burg M, Nahmani A, Frydman M, Shohat M, Inbar D, Aviram-Goldring A, Yeshaya J, Steinberg T, Finkelstein Y, Frisch A, Weizman A, Apter A.
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| Am J Med Genet 126B(1):99-105. 2004
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| 8 | VCF, DEL22Q11
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| Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome.
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| Gothelf D, Presburger G, Levy D, Nahmani A, Burg M, Berant M, Blieden LC, Finkelstein Y, Frisch A, Apter A, Weizman A.
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| Am J Med Genet 126B(1):116-21. 2004
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| 9 | VCF, DEL22Q11
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| Velopharyngeal incompetence and chromosome 22q11 deletion.
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| Boorman JG, Varma S, Ogilvie CM.
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| Lancet 357(9258):774. 2001
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| 10 | VCF, DEL22Q11
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| Der(22) syndrome and velo-cardio-facial Syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
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| Funke B, et al.
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| Am J Hum Genet 64(3):747-58. 1999
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| 11 | DEL22Q11, VCF
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| A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
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| Saitta SC, et al.
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| Am J Hum Genet 65(2):562-6. No abstract available 1999
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| 12 | DEL22Q11, VCF
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| Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
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| McQuade L, et al.
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| Am J Med Genet 86(1):27-33 1999
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| 13 | VCF, DEL22Q11
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| Psychiatric inpatients and chromosome deletions within 22q11.2.
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| Sugama S, Namihira T, Matsuoka R, Taira N, Eto Y, Maekawa K.
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| J Neurol Neurosurg Psychiatry 67(6):803-6. 1999
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| 14 | DEL22Q11, VCF
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| Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.
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| Edelmann L, Pandita RK, Morrow BE.
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| Am J Hum Genet 64(4):1076-86. 1999
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| 15 | VCF
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| Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and multidimensionally impaired.
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| Yan W, Jacobsen LK, Krasnewich DM, Guan XY, Lenane MC, Paul SP, Dalwadi HN, Zhang H, Long RT, Kumra S, Martin BM, Scambler PJ, Trent JM, Sidransky E, Ginns EI, Rapoport JL.
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| Am J Med Genet 81(1):41-3. 1998
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| 16 | SLC7A4, VCF
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| The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
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| Sperandeo MP, et al.
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| Genomics 49 : 230-236. 1998
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| 17 | VCF, SCZD4
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| Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.
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| Carlson C, et al.
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| Am J Hum Genet 60 : 851-859. 1997
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| 18 | VCF
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| Arthritis associated with deletion of 22q11.2: more common than previously suspected.
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| Keenan GF, Sullivan KE, McDonald-McGinn DM, Zackai EH.
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| Am J Med Genet 71(4):488. 1997
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| 19 | DEL22Q11, VCF
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| Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
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| Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE.
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| Am J Hum Genet 61(3):620-9. 1997
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| 20 | CLTCL1, DEL22Q11, VCF
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| Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome.
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| Sirotkin H, et al.
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| Hum Mol Genet 5 : 617-624. 1996
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| 21 | DEL22Q11, VCF
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| Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
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| Ravnan JB, et al.
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| Am J Med Genet 66 : 250-256. 1996
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| 22 | DEL22Q11, VCF
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| Submicroscopic deletions at 22q11.2 : variability of the clinical picture and delineation of a commonly deleted region.
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| Lindsay EA, et al.
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| Am J Med Genet 56 : 191-197. 1995
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| 23 | VCF
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| Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.
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| Morrow B, et al.
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| Am J Hum Genet 56 : 1391-1403. 1995
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| 24 | VCF, DEL22Q11
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| Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
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| Demczuk S, et al.
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| Hum Genet 96 : 9-13. 1995
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| 25 | VCF
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| Velo-cardio-facial syndrome : frequency and extent of 22q11 deletions.
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| Lindsay EA, et al.
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| Am J Med Genet 57 : 514-522. 1995
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| 26 | VCF, SCZD4
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| Schizophrenia and chromosomal deletions within 22q11.2.
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| Lindsay EA, et al.
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| Am J Hum Genet 56 : 1502-1503. 1995
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| 27 | VCF
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| CATCH 22 sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia : cAtch 22. A common result of 22q11 deficiency?
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| Lipson A, et al.
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| J Med Genet 31 : 741. 1994
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| 28 | VCF, DEL22Q11
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| Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
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| Nickel RE, et al.
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| Am J Med Genet 52 : 445-449. 1994
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| 29 | DEL22Q11, VCF
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| Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes : implications for genetic counselling and prenatal diagnosis.
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| Driscoll DA, et al.
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| J Med Genet 30 : 813-817. 1993
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| 30 | DEL22Q11, VCF
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| Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.
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| Halford S, et al.
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| Hum Mol Genet 2 : 191-196. 1993
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| 31 | VCF
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| Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.
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| Kelly D, et al.
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| Am J Med Genet 45 : 308-312. 1993
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| 32 | VCF
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| Velo-cardio-facial syndrome : a review of 120 patients.
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| Goldberg R, et al.
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| Am J Med Genet 45 : 313-319. 1993
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| 33 | VCF
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| Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.
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| Scambler PJ, et al.
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| Lancet 339 : 1138-1139. 1992
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| 34 | VCF
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| Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
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| Driscoll DA, et al.
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| Am J Med Genet 44 : 261-268. 1992
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| 35 | VCF, DEL22Q11
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| Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH) : diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations.
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| Emanuel BS, et al.
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| Am J Hum Genet 51 : A3. 1992
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| 36 | VCF
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| Velocardiofacial syndrome : variable expression in a mother and son with an interstitial deletion of the long arm of chromosome 22.
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| McLean SD, et al.
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| Am J Hum Genet 51 : A84. 1992
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| 37 | VCF, SCZD4
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| Late-onset psychosis in the velo-cardio-facial syndrome.
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| Shprintzen RJ, et al.
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| Am J Med Genet 42 : 141-142. 1992
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| 38 | VCF
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| The velo-cardio-facial syndrome : a clinical and genetic analysis.
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| Shprintzen RJ, et al.
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| Pediatrics 67 : 167-172. 1981
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