BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 26278718)

  • 1. 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]  

  • 2. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
    Guo T; Diacou A; Nomaru H; McDonald-McGinn DM; Hestand M; Demaerel W; Zhang L; Zhao Y; Ujueta F; Shan J; Montagna C; Zheng D; Crowley TB; Kushan-Wells L; Bearden CE; Kates WR; Gothelf D; Schneider M; Eliez S; Breckpot J; Swillen A; Vorstman J; Zackai E; Benavides Gonzalez F; Repetto GM; Emanuel BS; Bassett AS; Vermeesch JR; Marshall CR; Morrow BE;
    Hum Mol Genet; 2018 Apr; 27(7):1150-1163. PubMed ID: 29361080
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
    Demaerel W; Hestand MS; Vergaelen E; Swillen A; López-Sánchez M; Pérez-Jurado LA; McDonald-McGinn DM; Zackai E; Emanuel BS; Morrow BE; Breckpot J; Devriendt K; Vermeesch JR;
    Am J Hum Genet; 2017 Oct; 101(4):616-622. PubMed ID: 28965848
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.
    Molck MC; Vieira TP; Simioni M; Sgardioli IC; dos Santos AP; Xavier AC; Gil-da-Silva-Lopes VL
    Am J Med Genet A; 2015 Jan; 167A(1):215-20. PubMed ID: 25358462
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
    Tuţulan-Cuniţă AC; Budişteanu M; Papuc SM; Dupont JM; Blancho D; Lebbar A; Viot G; Lungeanu A; Arghir A
    Psychiatry Res; 2012 May; 197(3):356-7. PubMed ID: 22365273
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
    Coppinger J; McDonald-McGinn D; Zackai E; Shane K; Atkin JF; Asamoah A; Leland R; Weaver DD; Lansky-Shafer S; Schmidt K; Feldman H; Cohen W; Phalin J; Powell B; Ballif BC; Theisen A; Geiger E; Haldeman-Englert C; Shaikh TH; Saitta S; Bejjani BA; Shaffer LG
    Hum Mol Genet; 2009 Apr; 18(8):1377-83. PubMed ID: 19193630
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
    Saitta SC; Harris SE; McDonald-McGinn DM; Emanuel BS; Tonnesen MK; Zackai EH; Seitz SC; Driscoll DA
    Am J Med Genet A; 2004 Jan; 124A(3):313-7. PubMed ID: 14708107
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
    Guo X; Delio M; Haque N; Castellanos R; Hestand MS; Vermeesch JR; Morrow BE; Zheng D
    Hum Mol Genet; 2016 Sep; 25(17):3754-3767. PubMed ID: 27436579
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.