BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 18342595)

  • 1. Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
    Nogueira SI; Hacker AM; Bellucco FT; Christofolini DM; Kulikowski LD; Cernach MC; Emanuel BS; Melaragno MI
    Eur J Med Genet; 2008; 51(3):226-30. PubMed ID: 18342595
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA; Spikes AS; Kashork CD; Wu JM; Daw SC; Scambler PJ; Shaffer LG
    Am J Med Genet; 2000 Apr; 91(4):313-7. PubMed ID: 10766989
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis.
    Chen YF; Kou PL; Tsai SJ; Chen KF; Chan HH; Chen CM; Sun HS
    Genomics; 2006 Feb; 87(2):290-7. PubMed ID: 16307865
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.
    Amati F; Conti E; Novelli A; Bengala M; Diglio MC; Marino B; Giannotti A; Gabrielli O; Novelli G; Dallapiccola B
    Eur J Hum Genet; 1999 Dec; 7(8):903-9. PubMed ID: 10602366
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
    Driscoll DA; Salvin J; Sellinger B; Budarf ML; McDonald-McGinn DM; Zackai EH; Emanuel BS
    J Med Genet; 1993 Oct; 30(10):813-7. PubMed ID: 8230155
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.
    Carli D; Moroni A; Eleonora DG; Zonta A; Montin D; Licciardi F; Aidala E; Bordese R; Carlo PN; Brusco A; Giovanni Battista F; Mussa A
    J Genet; 2021; 100():. PubMed ID: 33707356
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior.
    D'Angelo CS; Jehee FS; Koiffmann CP
    Am J Med Genet A; 2007 Aug; 143A(16):1928-32. PubMed ID: 17618498
    [No Abstract]   [Full Text] [Related]  

  • 17. Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
    Vervoort L; Demaerel W; Rengifo LY; Odrzywolski A; Vergaelen E; Hestand MS; Breckpot J; Devriendt K; Swillen A; McDonald-McGinn DM; Fiksinski AM; Zinkstok JR; Morrow BE; Heung T; Vorstman JAS; Bassett AS; Chow EWC; Shashi V; ; ; Vermeesch JR
    Hum Mol Genet; 2019 Nov; 28(22):3724-3733. PubMed ID: 31884517
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: a new component manifestation of deletion 22q11?
    Lévy A; Michel G; Lemerrer M; Philip N
    Am J Med Genet; 1997 Apr; 69(4):356-9. PubMed ID: 9098482
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial 22q11.2 deletions in DiGeorge/velocardiofacial syndrome are predominantly smaller than the commonly observed 3Mb.
    Adeyinka A; Stockero KJ; Flynn HC; Lorentz CP; Ketterling RP; Jalal SM
    Genet Med; 2004; 6(6):517-20. PubMed ID: 15545748
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.