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7. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Babcock M; Yatsenko S; Hopkins J; Brenton M; Cao Q; de Jong P; Stankiewicz P; Lupski JR; Sikela JM; Morrow BE Hum Mol Genet; 2007 Nov; 16(21):2560-71. PubMed ID: 17675367 [TBL] [Abstract][Full Text] [Related]
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9. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints. Zhou B; Purmann C; Guo H; Shin G; Huang Y; Pattni R; Meng Q; Greer SU; Roychowdhury T; Wood RN; Ho M; Dohna HZ; Abyzov A; Hallmayer JF; Wong WH; Ji HP; Urban AE Proc Natl Acad Sci U S A; 2024 Jul; 121(31):e2322834121. PubMed ID: 39042694 [TBL] [Abstract][Full Text] [Related]
10. No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients. Guipponi M; Santoni F; Schneider M; Gehrig C; Bustillo XB; Kates WR; Morrow B; Armando M; Vicari S; Sloan-Béna F; Gagnebin M; Shashi V; Hooper SR; Eliez S; Antonarakis SE Transl Psychiatry; 2017 Feb; 7(2):e1039. PubMed ID: 28221368 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions. Uddin RK; Zhang Y; Siu VM; Fan YS; O'Reilly RL; Rao J; Singh SM BMC Med Genet; 2006 Mar; 7():18. PubMed ID: 16512914 [TBL] [Abstract][Full Text] [Related]
16. 22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features. Burnside RD Cytogenet Genome Res; 2015; 146(2):89-99. PubMed ID: 26278718 [TBL] [Abstract][Full Text] [Related]
17. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance. Woodward KJ; Stampalia J; Vanyai H; Rijhumal H; Potts K; Taylor F; Peverall J; Grumball T; Sivamoorthy S; Alinejad-Rokny H; Wray J; Whitehouse A; Nagarajan L; Scurlock J; Afchani S; Edwards M; Murch A; Beilby J; Baynam G; Kiraly-Borri C; McKenzie F; Heng JIT Mol Genet Genomic Med; 2019 Feb; 7(2):e00507. PubMed ID: 30614210 [TBL] [Abstract][Full Text] [Related]