272 related articles for article (PubMed ID: 30627818)
1. Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
Dantas AG; Santoro ML; Nunes N; de Mello CB; Pimenta LSE; Meloni VA; Soares DCQ; Belangero SN; Carvalheira G; Kim CA; Melaragno MI
Hum Genet; 2019 Jan; 138(1):93-103. PubMed ID: 30627818
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.
Guipponi M; Santoni F; Schneider M; Gehrig C; Bustillo XB; Kates WR; Morrow B; Armando M; Vicari S; Sloan-Béna F; Gagnebin M; Shashi V; Hooper SR; Eliez S; Antonarakis SE
Transl Psychiatry; 2017 Feb; 7(2):e1039. PubMed ID: 28221368
[TBL] [Abstract][Full Text] [Related]
5. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Bassett AS; Lowther C; Merico D; Costain G; Chow EWC; van Amelsvoort T; McDonald-McGinn D; Gur RE; Swillen A; Van den Bree M; Murphy K; Gothelf D; Bearden CE; Eliez S; Kates W; Philip N; Sashi V; Campbell L; Vorstman J; Cubells J; Repetto GM; Simon T; Boot E; Heung T; Evers R; Vingerhoets C; van Duin E; Zackai E; Vergaelen E; Devriendt K; Vermeesch JR; Owen M; Murphy C; Michaelovosky E; Kushan L; Schneider M; Fremont W; Busa T; Hooper S; McCabe K; Duijff S; Isaev K; Pellecchia G; Wei J; Gazzellone MJ; Scherer SW; Emanuel BS; Guo T; Morrow BE; Marshall CR;
Am J Psychiatry; 2017 Nov; 174(11):1054-1063. PubMed ID: 28750581
[TBL] [Abstract][Full Text] [Related]
6. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.
Prasad SE; Howley S; Murphy KC
Dev Disabil Res Rev; 2008; 14(1):26-34. PubMed ID: 18636634
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.
Shetty M; Srikanth A; Kadandale J; Hegde S
Cytogenet Genome Res; 2016; 148(4):249-55. PubMed ID: 27300488
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels.
Karbarz M
Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32842603
[TBL] [Abstract][Full Text] [Related]
11. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A
Am J Med Genet; 1999 Sep; 86(1):27-33. PubMed ID: 10440825
[TBL] [Abstract][Full Text] [Related]
12. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Cillo F; Coppola E; Habetswallner F; Cecere F; Pignata L; Toriello E; De Rosa A; Grilli L; Ammendola A; Salerno P; Romano R; Cirillo E; Merla G; Riccio A; Pignata C; Giardino G
Genes (Basel); 2024 Feb; 15(3):. PubMed ID: 38540380
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Verhagen JM; Diderich KE; Oudesluijs G; Mancini GM; Eggink AJ; Verkleij-Hagoort AC; Groenenberg IA; Willems PJ; du Plessis FA; de Man SA; Srebniak MI; van Opstal D; Hulsman LO; van Zutven LJ; Wessels MW
Am J Med Genet A; 2012 Oct; 158A(10):2412-20. PubMed ID: 22893440
[TBL] [Abstract][Full Text] [Related]
14. Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Nunes N; Carvalho Nunes B; Zamariolli M; Cordeiro de Queiroz Soares D; Caires Dos Santos L; Gollo Dantas A; Ayres Meloni V; Iole Belangero S; Gil-Da-Silva-Lopes VL; Ae Kim C; Melaragno MI
Genet Res (Camb); 2024; 2024():5549592. PubMed ID: 38586596
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Genotype-phenotype correlation in 22q11.2 deletion syndrome.
Michaelovsky E; Frisch A; Carmel M; Patya M; Zarchi O; Green T; Basel-Vanagaite L; Weizman A; Gothelf D
BMC Med Genet; 2012 Dec; 13():122. PubMed ID: 23245648
[TBL] [Abstract][Full Text] [Related]
17. Integrative transcriptome network analysis of iPSC-derived neurons from schizophrenia and schizoaffective disorder patients with 22q11.2 deletion.
Lin M; Pedrosa E; Hrabovsky A; Chen J; Puliafito BR; Gilbert SR; Zheng D; Lachman HM
BMC Syst Biol; 2016 Nov; 10(1):105. PubMed ID: 27846841
[TBL] [Abstract][Full Text] [Related]
18. Genetic compensation in a human genomic disorder.
Carelle-Calmels N; Saugier-Veber P; Girard-Lemaire F; Rudolf G; Doray B; Guérin E; Kuhn P; Arrivé M; Gilch C; Schmitt E; Fehrenbach S; Schnebelen A; Frébourg T; Flori E
N Engl J Med; 2009 Mar; 360(12):1211-6. PubMed ID: 19297573
[TBL] [Abstract][Full Text] [Related]
19. Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.
Carey AH; Claussen U; Lüdecke HJ; Horsthemke B; Ellis D; Oakey H; Wilson D; Burn J; Williamson R; Scambler PJ
Mamm Genome; 1992; 3(2):101-5. PubMed ID: 1617213
[TBL] [Abstract][Full Text] [Related]
20. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
Kozlova IuO; Zabnenkova VV; Shilova NV; Min'zhenkova ME; Antonenko VG; Kotlukova NP; Simonova LV; Kazanceva IA; Levchenko EG; Bombardirova TD; Zolotukhina TV; Poliakov AV
Genetika; 2014 May; 50(5):602-10. PubMed ID: 25715476
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]