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178 related items for PubMed ID: 16708226
21. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Genet Med; 2008 Apr; 10(4):267-77. PubMed ID: 18414210 [Abstract] [Full Text] [Related]
22. 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 22; 15():95. PubMed ID: 26297018 [Abstract] [Full Text] [Related]
23. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Shaikh TH, Kurahashi H, Emanuel BS. Genet Med; 2001 Aug 22; 3(1):6-13. PubMed ID: 11339380 [Abstract] [Full Text] [Related]
24. Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. D'Antoni S, Mattina T, Di Mare P, Federico C, Motta S, Saccone S. Gene; 2004 May 26; 333():111-9. PubMed ID: 15177686 [Abstract] [Full Text] [Related]
25. 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 10; 91(4):313-7. PubMed ID: 10766989 [Abstract] [Full Text] [Related]
26. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M. Clin Genet; 2007 Feb 10; 71(2):177-82. PubMed ID: 17250668 [Abstract] [Full Text] [Related]
28. Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. Ko JM, Kim JB, Pai KS, Yun JN, Park SJ. J Korean Med Sci; 2010 Dec 10; 25(12):1798-801. PubMed ID: 21165297 [Abstract] [Full Text] [Related]
33. Genetic compensation in a human genomic disorder. Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guérin E, Kuhn P, Arrivé M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frébourg T, Flori E. N Engl J Med; 2009 Mar 19; 360(12):1211-6. PubMed ID: 19297573 [Abstract] [Full Text] [Related]
36. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement. Torti EE, Braddock SR, Bernreuter K, Batanian JR. Am J Med Genet A; 2013 Aug 19; 161A(8):1992-8. PubMed ID: 23894059 [Abstract] [Full Text] [Related]
37. 22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion. Wang Y, Yu Y, Hu X, Li B, Qian J. Gene; 2014 Mar 01; 537(1):164-8. PubMed ID: 24361202 [Abstract] [Full Text] [Related]