263 related articles for article (PubMed ID: 19942620)
1. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
Ye M; Coldren C; Liang X; Mattina T; Goldmuntz E; Benson DW; Ivy D; Perryman MB; Garrett-Sinha LA; Grossfeld P
Hum Mol Genet; 2010 Feb; 19(4):648-56. PubMed ID: 19942620
[TBL] [Abstract][Full Text] [Related]
2. Gene-targeted deletion in mice of the Ets-1 transcription factor, a candidate gene in the Jacobsen syndrome kidney "critical region," causes abnormal kidney development.
Ye M; Xu L; Fu M; Chen D; Mattina T; Zufardi O; Rossi E; Bush KT; Nigam SK; Grossfeld P
Am J Med Genet A; 2019 Jan; 179(1):71-77. PubMed ID: 30422383
[TBL] [Abstract][Full Text] [Related]
3. Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.
Ye M; Hamzeh R; Geddis A; Varki N; Perryman MB; Grossfeld P
Am J Med Genet A; 2009 Jul; 149A(7):1438-43. PubMed ID: 19533782
[TBL] [Abstract][Full Text] [Related]
4. Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.
Ye M; Parente F; Li X; Perryman MB; Zelante L; Wynshaw-Boris A; Chen J; Grossfeld P
Am J Med Genet A; 2014 Apr; 164A(4):966-74. PubMed ID: 24616287
[TBL] [Abstract][Full Text] [Related]
5. Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular Non-Compaction.
Wang L; Lin L; Qi H; Chen J; Grossfeld P
Circ Res; 2022 Aug; 131(5):371-387. PubMed ID: 35894043
[TBL] [Abstract][Full Text] [Related]
6. Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor.
Tootleman E; Malamut B; Akshoomoff N; Mattson SN; Hoffman HM; Jones MC; Printz B; Shiryaev SA; Grossfeld P
Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 31160359
[TBL] [Abstract][Full Text] [Related]
7. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome).
Coldren CD; Lai Z; Shragg P; Rossi E; Glidewell SC; Zuffardi O; Mattina T; Ivy DD; Curfs LM; Mattson SN; Riley EP; Treier M; Grossfeld PD
Neurogenetics; 2009 Apr; 10(2):89-95. PubMed ID: 18855024
[TBL] [Abstract][Full Text] [Related]
8. Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound.
Chen CP; Wang LK; Wu PC; Chang TY; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2017 Feb; 56(1):102-105. PubMed ID: 28254208
[TBL] [Abstract][Full Text] [Related]
9. Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.
Akshoomoff N; Mattson SN; Grossfeld PD
Genet Med; 2015 Feb; 17(2):143-8. PubMed ID: 25058499
[TBL] [Abstract][Full Text] [Related]
10. Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.
Guerin A; Stavropoulos DJ; Diab Y; Chénier S; Christensen H; Kahr WH; Babul-Hirji R; Chitayat D
Am J Med Genet A; 2012 Oct; 158A(10):2551-6. PubMed ID: 22965935
[TBL] [Abstract][Full Text] [Related]
11. A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.
Evers C; Janssen JW; Jauch A; Bonin M; Moog U
Am J Med Genet A; 2012 Mar; 158A(3):680-4. PubMed ID: 22302716
[No Abstract] [Full Text] [Related]
12. Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
Chen CP; Lin SP; Hsu CH; Chern SR; Su JW; Chen YJ; Pan CW; Wang W
Genet Couns; 2012; 23(2):223-9. PubMed ID: 22876581
[TBL] [Abstract][Full Text] [Related]
13. Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.
Ji T; Wu Y; Wang H; Wang J; Jiang Y
J Hum Genet; 2010 Aug; 55(8):486-9. PubMed ID: 20520618
[TBL] [Abstract][Full Text] [Related]
14. Chromoanasynthesis as a cause of Jacobsen syndrome.
Anzick S; Thurm A; Burkett S; Velez D; Cho E; Chlebowski C; Virtaneva K; Bruno D; Martin CB; Lang DM; Brooks B; Martens C; McDermott DH; Murphy PM
Am J Med Genet A; 2020 Nov; 182(11):2533-2539. PubMed ID: 32841469
[TBL] [Abstract][Full Text] [Related]
15. De novo interstitial deletion in the long arm of chromosome 11: a case report.
Li LL; Zhang HG; Shao XG; Gao JC; Zhang HY; Liu RZ
Genet Mol Res; 2016 Jul; 15(2):. PubMed ID: 27421024
[TBL] [Abstract][Full Text] [Related]
16. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.
Wenger SL; Grossfeld PD; Siu BL; Coad JE; Keller FG; Hummel M
Am J Med Genet A; 2006 Apr; 140(7):704-8. PubMed ID: 16502431
[TBL] [Abstract][Full Text] [Related]
17. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.
Afifi HH; Zaki MS; El-Gerzawy AM; Kayed HF
Genet Couns; 2008; 19(1):47-58. PubMed ID: 18564501
[TBL] [Abstract][Full Text] [Related]
18. 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.
Johnson JP; Haag M; Beischel L; McCann C; Phillips S; Tunby M; Hansen J; Schwanke C; Reynolds JF
Clin Genet; 2014 Apr; 85(4):376-80. PubMed ID: 23586500
[TBL] [Abstract][Full Text] [Related]
19. Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.
Favier R; Akshoomoff N; Mattson S; Grossfeld P
Am J Med Genet C Semin Med Genet; 2015 Sep; 169(3):239-50. PubMed ID: 26285164
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
