199 related articles for article (PubMed ID: 11339380)
1. 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]
2. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
Shaikh TH; Kurahashi H; Saitta SC; O'Hare AM; Hu P; Roe BA; Driscoll DA; McDonald-McGinn DM; Zackai EH; Budarf ML; Emanuel BS
Hum Mol Genet; 2000 Mar; 9(4):489-501. PubMed ID: 10699172
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. Genomic disorders on 22q11.
McDermid HE; Morrow BE
Am J Hum Genet; 2002 May; 70(5):1077-88. PubMed ID: 11925570
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
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. A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).
Nimmakayalu MA; Gotter AL; Shaikh TH; Emanuel BS
Hum Mol Genet; 2003 Nov; 12(21):2817-25. PubMed ID: 12952865
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Ensenauer RE; Adeyinka A; Flynn HC; Michels VV; Lindor NM; Dawson DB; Thorland EC; Lorentz CP; Goldstein JL; McDonald MT; Smith WE; Simon-Fayard E; Alexander AA; Kulharya AS; Ketterling RP; Clark RD; Jalal SM
Am J Hum Genet; 2003 Nov; 73(5):1027-40. PubMed ID: 14526392
[TBL] [Abstract][Full Text] [Related]
19. A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
Kriek M; Szuhai K; Kant SG; White SJ; Dauwerse H; Fiegler H; Carter NP; Knijnenburg J; den Dunnen JT; Tanke HJ; Breuning MH; Rosenberg C
Hum Genet; 2006 Aug; 120(1):77-84. PubMed ID: 16708226
[TBL] [Abstract][Full Text] [Related]
20. Microduplication 22q11.2: a new chromosomal syndrome.
Portnoï MF
Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
