217 related articles for article (PubMed ID: 29361080)
1. 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]
2. 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]
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. 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]
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. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Demaerel W; Mostovoy Y; Yilmaz F; Vervoort L; Pastor S; Hestand MS; Swillen A; Vergaelen E; Geiger EA; Coughlin CR; Chow SK; McDonald-McGinn D; Morrow B; Kwok PY; Xiao M; Emanuel BS; Shaikh TH; Vermeesch JR
Genome Res; 2019 Sep; 29(9):1389-1401. PubMed ID: 31481461
[TBL] [Abstract][Full Text] [Related]
19. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Campbell IM; Sheppard SE; Crowley TB; McGinn DE; Bailey A; McGinn MJ; Unolt M; Homans JF; Chen EY; Salmons HI; Gaynor JW; Goldmuntz E; Jackson OA; Katz LE; Mascarenhas MR; Deeney VFX; Castelein RM; Zur KB; Elden L; Kallish S; Kolon TF; Hopkins SE; Chadehumbe MA; Lambert MP; Forbes BJ; Moldenhauer JS; Schindewolf EM; Solot CB; Moss EM; Gur RE; Sullivan KE; Emanuel BS; Zackai EH; McDonald-McGinn DM
Am J Med Genet A; 2018 Oct; 176(10):2058-2069. PubMed ID: 30380191
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
