330 related articles for article (PubMed ID: 18636632)
1. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.
Emanuel BS
Dev Disabil Res Rev; 2008; 14(1):11-8. PubMed ID: 18636632
[TBL] [Abstract][Full Text] [Related]
2. 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; 3(1):6-13. PubMed ID: 11339380
[TBL] [Abstract][Full Text] [Related]
3. AT-rich palindromes mediate the constitutional t(11;22) translocation.
Edelmann L; Spiteri E; Koren K; Pulijaal V; Bialer MG; Shanske A; Goldberg R; Morrow BE
Am J Hum Genet; 2001 Jan; 68(1):1-13. PubMed ID: 11095996
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Pastor S; Tran O; Jin A; Carrado D; Silva BA; Uppuluri L; Abid HZ; Young E; Crowley TB; Bailey AG; McGinn DE; McDonald-McGinn DM; Zackai EH; Xie M; Taylor D; Morrow BE; Xiao M; Emanuel BS
Sci Rep; 2020 Jul; 10(1):12235. PubMed ID: 32699385
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Ben-Shachar S; Ou Z; Shaw CA; Belmont JW; Patel MS; Hummel M; Amato S; Tartaglia N; Berg J; Sutton VR; Lalani SR; Chinault AC; Cheung SW; Lupski JR; Patel A
Am J Hum Genet; 2008 Jan; 82(1):214-21. PubMed ID: 18179902
[TBL] [Abstract][Full Text] [Related]
11. Concurrent microdeletion and duplication of 22q11.2.
Blennow E; Lagerstedt K; Malmgren H; Sahlén S; Schoumans J; Anderlid B
Clin Genet; 2008 Jul; 74(1):61-7. PubMed ID: 18445048
[TBL] [Abstract][Full Text] [Related]
12. 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; 360(12):1211-6. PubMed ID: 19297573
[TBL] [Abstract][Full Text] [Related]
13. A common molecular basis for rearrangement disorders on chromosome 22q11.
Edelmann L; Pandita RK; Spiteri E; Funke B; Goldberg R; Palanisamy N; Chaganti RS; Magenis E; Shprintzen RJ; Morrow BE
Hum Mol Genet; 1999 Jul; 8(7):1157-67. PubMed ID: 10369860
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Distal 22q11.2 microduplication encompassing the BCR gene.
Descartes M; Franklin J; Diaz de Ståhl T; Piotrowski A; Bruder CE; Dumanski JP; Carroll AJ; Mikhail FM
Am J Med Genet A; 2008 Dec; 146A(23):3075-81. PubMed ID: 19006218
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes.
Spiteri E; Babcock M; Kashork CD; Wakui K; Gogineni S; Lewis DA; Williams KM; Minoshima S; Sasaki T; Shimizu N; Potocki L; Pulijaal V; Shanske A; Shaffer LG; Morrow BE
Hum Mol Genet; 2003 Aug; 12(15):1823-37. PubMed ID: 12874103
[TBL] [Abstract][Full Text] [Related]
18. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Bi W; Probst FJ; Wiszniewska J; Plunkett K; Roney EK; Carter BS; Williams MD; Stankiewicz P; Patel A; Stevens CA; Lupski JR; Cheung SW
J Med Genet; 2012 Nov; 49(11):681-8. PubMed ID: 23042811
[TBL] [Abstract][Full Text] [Related]
19. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12.
Babcock M; Yatsenko S; Stankiewicz P; Lupski JR; Morrow BE
Genome Res; 2007 Apr; 17(4):451-60. PubMed ID: 17284672
[TBL] [Abstract][Full Text] [Related]
20. Detailed analysis of 22q11.2 with a high density MLPA probe set.
Jalali GR; Vorstman JA; Errami A; Vijzelaar R; Biegel J; Shaikh T; Emanuel BS
Hum Mutat; 2008 Mar; 29(3):433-40. PubMed ID: 18033723
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]