229 related articles for article (PubMed ID: 17028864)
1. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.
Weksberg R; Stachon AC; Squire JA; Moldovan L; Bayani J; Meyn S; Chow E; Bassett AS
Hum Genet; 2007 Feb; 120(6):837-45. PubMed ID: 17028864
[TBL] [Abstract][Full Text] [Related]
2. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
Beaujard MP; Chantot S; Dubois M; Keren B; Carpentier W; Mabboux P; Whalen S; Vodovar M; Siffroi JP; Portnoï MF
Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
[TBL] [Abstract][Full Text] [Related]
3. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
Stachon AC; Baskin B; Smith AC; Shugar A; Cytrynbaum C; Fishman L; Mendoza-Londono R; Klatt R; Teebi A; Ray PN; Weksberg R
Am J Med Genet A; 2007 Dec; 143A(24):2924-30. PubMed ID: 18000985
[TBL] [Abstract][Full Text] [Related]
4. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
Shaikh TH; O'Connor RJ; Pierpont ME; McGrath J; Hacker AM; Nimmakayalu M; Geiger E; Emanuel BS; Saitta SC
Genome Res; 2007 Apr; 17(4):482-91. PubMed ID: 17351135
[TBL] [Abstract][Full Text] [Related]
5. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.
Bittel DC; Yu S; Newkirk H; Kibiryeva N; Holt A; Butler MG; Cooley LD
Cytogenet Genome Res; 2009; 124(2):113-20. PubMed ID: 19420922
[TBL] [Abstract][Full Text] [Related]
6. Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR.
Hwang VJ; Maar D; Regan J; Angkustsiri K; Simon TJ; Tassone F
BMC Med Genet; 2014 Oct; 15():106. PubMed ID: 25312060
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.
Gotter AL; Nimmakayalu MA; Jalali GR; Hacker AM; Vorstman J; Conforto Duffy D; Medne L; Emanuel BS
Genome Res; 2007 Apr; 17(4):470-81. PubMed ID: 17351131
[TBL] [Abstract][Full Text] [Related]
9. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Bassett AS; Marshall CR; Lionel AC; Chow EW; Scherer SW
Hum Mol Genet; 2008 Dec; 17(24):4045-53. PubMed ID: 18806272
[TBL] [Abstract][Full Text] [Related]
10. A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
Weksberg R; Hughes S; Moldovan L; Bassett AS; Chow EW; Squire JA
BMC Genomics; 2005 Dec; 6():180. PubMed ID: 16351727
[TBL] [Abstract][Full Text] [Related]
11. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
Delahaye A; Toutain A; Aboura A; Dupont C; Tabet AC; Benzacken B; Elion J; Verloes A; Pipiras E; Drunat S
Eur J Med Genet; 2009; 52(5):328-32. PubMed ID: 19454329
[TBL] [Abstract][Full Text] [Related]
12. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.
Rauch A; Zink S; Zweier C; Thiel CT; Koch A; Rauch R; Lascorz J; Hüffmeier U; Weyand M; Singer H; Hofbeck M
J Med Genet; 2005 Nov; 42(11):871-6. PubMed ID: 15831592
[TBL] [Abstract][Full Text] [Related]
13. Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
McTaggart KE; Budarf ML; Driscoll DA; Emanuel BS; Ferreira P; McDermid HE
Cytogenet Cell Genet; 1998; 81(3-4):222-8. PubMed ID: 9730608
[TBL] [Abstract][Full Text] [Related]
14. [Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases].
Xu ZF; Yi L; Mo XM; Hu Y; Wang DJ; Zhu RF; Jiang YZ; Wu X; Wu Z; Shen L; Zhang Y; Zhong XL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):250-5. PubMed ID: 16767657
[TBL] [Abstract][Full Text] [Related]
15. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.
Prasad SE; Howley S; Murphy KC
Dev Disabil Res Rev; 2008; 14(1):26-34. PubMed ID: 18636634
[TBL] [Abstract][Full Text] [Related]
16. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.
Bassett AS; Caluseriu O; Weksberg R; Young DA; Chow EW
Biol Psychiatry; 2007 May; 61(10):1135-40. PubMed ID: 17217925
[TBL] [Abstract][Full Text] [Related]
17. Altered expression of hippocampal dentate granule neuron genes in a mouse model of human 22q11 deletion syndrome.
Jurata LW; Gallagher P; Lemire AL; Charles V; Brockman JA; Illingworth EL; Altar CA
Schizophr Res; 2006 Dec; 88(1-3):251-9. PubMed ID: 17008057
[TBL] [Abstract][Full Text] [Related]
18. Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia.
Takahashi S; Suzuki T; Nakamura-Tomizuka S; Osaki K; Sotome Y; Sagawa T; Uchiyama M
Am J Med Genet B Neuropsychiatr Genet; 2015 Jun; 168B(4):229-35. PubMed ID: 25776014
[TBL] [Abstract][Full Text] [Related]
19. Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
Lin I; Afshar Y; Goldstein J; Grossman J; Grody WW; Quintero-Rivera F
Am J Med Genet A; 2021 Oct; 185(10):3042-3047. PubMed ID: 34196458
[TBL] [Abstract][Full Text] [Related]
20. [Microdeletion 22q11: apropos of case of schizophrenia in an adolescent].
Pinquier C; Héron D; de Carvalho W; Lazar G; Mazet P; Cohen D
Encephale; 2001; 27(1):45-50. PubMed ID: 11294038
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
