158 related articles for article (PubMed ID: 32841469)
1. 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]
2. 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]
3. 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]
4. 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]
5. Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.
Plaisancié J; Kleinfinger P; Cances C; Bazin A; Julia S; Trost D; Lohmann L; Vigouroux A
Eur J Med Genet; 2014 Oct; 57(10):567-70. PubMed ID: 25128687
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Conrad S; Demurger F; Moradkhani K; Pichon O; Le Caignec C; Pascal C; Thomas C; Bayart S; Perlat A; Dubourg C; Jaillard S; Nizon M
Am J Med Genet A; 2019 Jun; 179(6):993-1000. PubMed ID: 30888095
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. '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]
13. 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]
14. 11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.
Blazina Š; Ihan A; Lovrečić L; Hovnik T
Am J Med Genet A; 2016 Dec; 170(12):3237-3240. PubMed ID: 27605496
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype-phenotype maps.
Jamsheer A; Smyk M; Wierzba J; Kołowska J; Woźniak A; Skołozdrzy J; Fischer M; Latos-Bieleńska A
J Appl Genet; 2008; 49(4):397-405. PubMed ID: 19029687
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Córdova-Fletes C; Rivera H; Aguayo-Orozco TA; Martínez-Jacobo LA; Garza-González E; Robles-Espinoza CD; Basurto-Lozada P; Avalos-Gómez HG; Esparza-García E; Domínguez-Quezada MG
Eur J Med Genet; 2022 Oct; 65(10):104579. PubMed ID: 35933106
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]