BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

259 related articles for article (PubMed ID: 28965848)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.
    Pastor S; Tran O; McGinn DE; Crowley TB; Zackai EH; McDonald-McGinn DM; Emanuel BS
    Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140835
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
    Saitta SC; Harris SE; Gaeth AP; Driscoll DA; McDonald-McGinn DM; Maisenbacher MK; Yersak JM; Chakraborty PK; Hacker AM; Zackai EH; Ashley T; Emanuel BS
    Hum Mol Genet; 2004 Feb; 13(4):417-28. PubMed ID: 14681306
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
    Dempsey MA; Schwartz S; Waggoner DJ
    Am J Med Genet A; 2007 May; 143A(10):1082-6. PubMed ID: 17431914
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.
    Shimojima K; Okamoto N; Inazu T; Yamamoto T
    J Hum Genet; 2011 Nov; 56(11):810-2. PubMed ID: 21866110
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
    Zhao Y; Guo T; Fiksinski A; Breetvelt E; McDonald-McGinn DM; Crowley TB; Diacou A; Schneider M; Eliez S; Swillen A; Breckpot J; Vermeesch J; Chow EWC; Gothelf D; Duijff S; Evers R; van Amelsvoort TA; van den Bree M; Owen M; Niarchou M; Bearden CE; Ornstein C; Pontillo M; Buzzanca A; Vicari S; Armando M; Murphy KC; Murphy C; Garcia-Minaur S; Philip N; Campbell L; Morey-Cañellas J; Raventos J; Rosell J; Heine-Suner D; Shprintzen RJ; Gur RE; Zackai E; Emanuel BS; Wang T; Kates WR; Bassett AS; Vorstman JAS; Morrow BE;
    Am J Med Genet A; 2018 Oct; 176(10):2172-2181. PubMed ID: 30289625
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.
    Torres-Juan L; Rosell J; Sánchez-de-la-Torre M; Fibla J; Heine-Suñer D
    BMC Med Genet; 2007 Apr; 8():14. PubMed ID: 17397557
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
    Zhao Y; Diacou A; Johnston HR; Musfee FI; McDonald-McGinn DM; McGinn D; Crowley TB; Repetto GM; Swillen A; Breckpot J; Vermeesch JR; Kates WR; Digilio MC; Unolt M; Marino B; Pontillo M; Armando M; Di Fabio F; Vicari S; van den Bree M; Moss H; Owen MJ; Murphy KC; Murphy CM; Murphy D; Schoch K; Shashi V; Tassone F; Simon TJ; Shprintzen RJ; Campbell L; Philip N; Heine-Suñer D; García-Miñaúr S; Fernández L; ; Bearden CE; Vingerhoets C; van Amelsvoort T; Eliez S; Schneider M; Vorstman JAS; Gothelf D; Zackai E; Agopian AJ; Gur RE; Bassett AS; Emanuel BS; Goldmuntz E; Mitchell LE; Wang T; Morrow BE
    Am J Hum Genet; 2020 Jan; 106(1):26-40. PubMed ID: 31870554
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetics of 22q11.2 deletion syndrome.
    Morrow BE; McDonald-McGinn DM; Emanuel BS; Vermeesch JR; Scambler PJ
    Am J Med Genet A; 2018 Oct; 176(10):2070-2081. PubMed ID: 30380194
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.