320 related articles for article (PubMed ID: 28496102)
1. Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.
León LE; Benavides F; Espinoza K; Vial C; Alvarez P; Palomares M; Lay-Son G; Miranda M; Repetto GM
Sci Rep; 2017 May; 7(1):1795. PubMed ID: 28496102
[TBL] [Abstract][Full Text] [Related]
2. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
[TBL] [Abstract][Full Text] [Related]
5. The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.
Homans JF; de Reuver S; Heung T; Silversides CK; Oechslin EN; Houben ML; McDonald-McGinn DM; Kruyt MC; Castelein RM; Bassett AS
Spine J; 2020 Jun; 20(6):956-963. PubMed ID: 31958577
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort.
Zamariolli M; Dantas AG; Nunes N; Moysés-Oliveira M; Sgardioli IC; Soares DCQ; Gil-Da-Silva-Lopes VL; Kim CA; Melaragno MI
Am J Med Genet A; 2023 May; 191(5):1273-1281. PubMed ID: 36751694
[TBL] [Abstract][Full Text] [Related]
7. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE; Xie M; Taylor D; Sheridan MB; Guo T; Racedo SE; McDonald-McGinn DM; Chow EW; Vorstman J; Swillen A; Devriendt K; Breckpot J; Digilio MC; Marino B; Dallapiccola B; Philip N; Simon TJ; Roberts AE; Piotrowicz M; Bearden CE; Eliez S; Gothelf D; Coleman K; Kates WR; Devoto M; Zackai E; Heine-Suñer D; Goldmuntz E; Bassett AS; Morrow BE; Emanuel BS;
Hum Genet; 2016 Mar; 135(3):273-85. PubMed ID: 26742502
[TBL] [Abstract][Full Text] [Related]
8. Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.
Rayannavar A; Levitt Katz LE; Crowley TB; Lessig M; Grand K; Goldmuntz E; Zackai EH; McDonald-McGinn DM
Am J Med Genet A; 2018 Oct; 176(10):2099-2103. PubMed ID: 30277015
[TBL] [Abstract][Full Text] [Related]
9. Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.
Huber J; Peres VC; de Castro AL; dos Santos TJ; da Fontoura Beltrão L; de Baumont AC; Cossio SL; Dalberto TP; Riegel M; Cañedo AD; Schaan BD; Pellanda LC
Pediatr Cardiol; 2014 Dec; 35(8):1356-62. PubMed ID: 24880467
[TBL] [Abstract][Full Text] [Related]
10. Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome.
Yu HH; Chien YH; Lu MY; Hu YC; Lee JH; Wang LC; Lin YT; Yang YH; Chiang BL
J Clin Immunol; 2022 Nov; 42(8):1721-1729. PubMed ID: 35925483
[TBL] [Abstract][Full Text] [Related]
11. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.
Rakonjac M; Cuturilo G; Stevanovic M; Jelicic L; Subotic M; Jovanovic I; Drakulic D
Res Dev Disabil; 2016 Aug; 55():322-9. PubMed ID: 27235769
[TBL] [Abstract][Full Text] [Related]
12. [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].
Demily C; Rossi M; Schneider M; Edery P; Leleu A; d'Amato T; Franck N; Eliez S
Encephale; 2015 Jun; 41(3):266-73. PubMed ID: 25523123
[TBL] [Abstract][Full Text] [Related]
13. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
Arbogast T; Iacono G; Chevalier C; Afinowi NO; Houbaert X; van Eede MC; Laliberte C; Birling MC; Linda K; Meziane H; Selloum M; Sorg T; Nadif Kasri N; Koolen DA; Stunnenberg HG; Henkelman RM; Kopanitsa M; Humeau Y; De Vries BBA; Herault Y
PLoS Genet; 2017 Jul; 13(7):e1006886. PubMed ID: 28704368
[TBL] [Abstract][Full Text] [Related]
14. Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.
Fung WL; Chow EW; Webb GD; Gatzoulis MA; Bassett AS
Int J Cardiol; 2008 Dec; 131(1):51-8. PubMed ID: 18191243
[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. Scoliosis in association with the 22q11.2 deletion syndrome: an observational study.
Homans JF; Baldew VGM; Brink RC; Kruyt MC; Schlösser TPC; Houben ML; Deeney VFX; Crowley TB; Castelein RM; McDonald-McGinn DM
Arch Dis Child; 2019 Jan; 104(1):19-24. PubMed ID: 29627765
[TBL] [Abstract][Full Text] [Related]
17. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Ron HA; Crowley TB; Liu Y; Unolt M; Schindewolf E; Moldenhauer J; Rychik J; Goldmuntz E; Emanuel BS; Ryba D; Gaynor JW; Zackai EH; Hakonarson H; McDonald-McGinn DM
Genes (Basel); 2022 Dec; 14(1):. PubMed ID: 36672801
[TBL] [Abstract][Full Text] [Related]
18. 22q11.2 duplications: Expanding the clinical presentation.
Bartik LE; Hughes SS; Tracy M; Feldt MM; Zhang L; Arganbright J; Kaye A
Am J Med Genet A; 2022 Mar; 188(3):779-787. PubMed ID: 34845825
[TBL] [Abstract][Full Text] [Related]
19. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
[TBL] [Abstract][Full Text] [Related]
20. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Unolt M; Kammoun M; Nowakowska B; Graham GE; Crowley TB; Hestand MS; Demaerel W; Geremek M; Emanuel BS; Zackai EH; Vermeesch JR; McDonald-McGinn D
Genet Med; 2020 Feb; 22(2):326-335. PubMed ID: 31474763
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
