PubMed (cited) for id: 147791

Year	Number of Results
1973	1
1986	1
1987	1
1988	1
1992	1
1994	1
1995	3
1996	1
1998	1
1999	1
2000	2
2001	1
2002	1
2003	1
2004	3
2005	1
2006	3
2008	3
2009	3
2010	3
2024	0

1

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. Ji T, et al. J Hum Genet. 2010 Aug;55(8):486-9. doi: 10.1038/jhg.2010.51. Epub 2010 Jun 3. J Hum Genet. 2010. PMID: 20520618

2

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K. Fujita H, et al. Am J Med Genet A. 2010 Apr;152A(4):1033-5. doi: 10.1002/ajmg.a.33151. Am J Med Genet A. 2010. PMID: 20358622 No abstract available.

3

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. Ye M, et al. Hum Mol Genet. 2010 Feb 15;19(4):648-56. doi: 10.1093/hmg/ddp532. Epub 2009 Nov 26. Hum Mol Genet. 2010. PMID: 19942620 Free PMC article.

4

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. Ye M, et al. Am J Med Genet A. 2009 Jul;149A(7):1438-43. doi: 10.1002/ajmg.a.32913. Am J Med Genet A. 2009. PMID: 19533782

5

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. Coldren CD, et al. Neurogenetics. 2009 Apr;10(2):89-95. doi: 10.1007/s10048-008-0157-x. Epub 2008 Oct 15. Neurogenetics. 2009. PMID: 18855024 Free PMC article.

6

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).

Bernaciak J, Szczałuba K, Derwińska K, Wiśniowiecka-Kowalnik B, Bocian E, Sasiadek MM, Makowska I, Stankiewicz P, Smigiel R. Bernaciak J, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490. Am J Med Genet A. 2008. PMID: 18792974

7

Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome).

Maas AP, Grossfeld PD, Didden R, Korzilius H, Braam WJ, Smits MG, Curfs LM. Maas AP, et al. Genet Couns. 2008;19(2):225-35. Genet Couns. 2008. PMID: 18618998

8

Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24).

Gadzicki D, Baumer A, Wey E, Happel CM, Rudolph C, Tönnies H, Neitzel H, Steinemann D, Welte K, Klein C, Schlegelberger B. Gadzicki D, et al. Ann Hum Genet. 2006 Nov;70(Pt 6):958-64. doi: 10.1111/j.1469-1809.2006.00271.x. Ann Hum Genet. 2006. PMID: 17044870

9

The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.

Miller GL, Somani S, Nowaczyk MJ, Feigenbaum A, Davidson RG, Costa T, Levin AV. Miller GL, et al. Ophthalmic Genet. 2006 Mar;27(1):1-7. doi: 10.1080/13816810500481832. Ophthalmic Genet. 2006. PMID: 16543195

10

Novel clinical features in a child with partial deletion of chromosome 11 [del(11)(q24.2)]: further evidence for phenotypic heterogeneity.

Giampietro PF, Babu D, Zabel CA, Silberman T, Zador I, DeBauche D, Ravnan JB, Dave BJ. Giampietro PF, et al. Am J Med Genet A. 2006 Feb 15;140(4):385-7. doi: 10.1002/ajmg.a.31067. Am J Med Genet A. 2006. PMID: 16411193 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

31 results

Results by year