131 related articles for article (PubMed ID: 29556653)
1. Morphological and genetic abnormalities in a Jacobsen syndrome.
Jurcă AD; Kozma K; Ioana M; Streaţă I; Petcheşi CD; Bembea M; Jurcă MC; Cuc EA; Vesa CM; Buhaş CL
Rom J Morphol Embryol; 2017; 58(4):1531-1534. PubMed ID: 29556653
[TBL] [Abstract][Full Text] [Related]
2. Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.
So J; Stockley T; Stavropoulos DJ
Am J Med Genet A; 2014 Feb; 164A(2):511-5. PubMed ID: 24311471
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Jacobsen syndrome.
Mattina T; Perrotta CS; Grossfeld P
Orphanet J Rare Dis; 2009 Mar; 4():9. PubMed ID: 19267933
[TBL] [Abstract][Full Text] [Related]
5. The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.
Dalm VA; Driessen GJ; Barendregt BH; van Hagen PM; van der Burg M
J Clin Immunol; 2015 Nov; 35(8):761-8. PubMed ID: 26566921
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.
Nalbantoğlu B; Donma MM; Nişli K; Paketçi C; Karasu E; Ozdilek B; Mintaş NE
Turk J Pediatr; 2013; 55(2):203-6. PubMed ID: 24192682
[TBL] [Abstract][Full Text] [Related]
8. Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.
Sinawat S; Kitkhuandee A; Auvichayapat N; Auvichayapat P; Yospaiboon Y; Sinawat S
J Med Assoc Thai; 2013 Jul; 96(7):870-3. PubMed ID: 24319861
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.
Wang J; Zhao T; Tan Z; Gong X; Ahemaiti Y; Wei L; Hu S
J Genet; 2022; 101():. PubMed ID: 36156508
[TBL] [Abstract][Full Text] [Related]
13. White matter abnormality in Jacobsen syndrome assessed by serial MRI.
Fujino S; Yoshihashi H; Takeda R; Ihara S; Miyama S
Brain Dev; 2020 Sep; 42(8):621-625. PubMed ID: 32507665
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.
Takahashi I; Takahashi T; Sawada K; Shimojima K; Yamamoto T
Am J Med Genet A; 2012 Jan; 158A(1):220-3. PubMed ID: 22139980
[TBL] [Abstract][Full Text] [Related]
16. Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.
Sheth FJ; Datar C; Andrieux J; Pandit A; Nayak D; Rahman M; Sheth JJ
Clin Med Insights Pediatr; 2014; 8():45-9. PubMed ID: 25288895
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.
Ichimiya Y; Wada Y; Kunishima S; Tsukamoto K; Kosaki R; Sago H; Ishiguro A; Ito Y
J Med Case Rep; 2018 Jan; 12(1):3. PubMed ID: 29307309
[TBL] [Abstract][Full Text] [Related]
20. Interstitial 11q24 deletion: a new case and review of the literature.
Tassano E; Janis S; Canepa A; Zanotto E; Torello C; Gimelli G; Cuoco C
J Appl Genet; 2016 Aug; 57(3):357-62. PubMed ID: 27020790
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
