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Items: 1 to 20 of 113

1.

Jacobsen syndrome.

Mattina T, Perrotta CS, Grossfeld P.

Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Review.

2.

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. doi: 10.1002/ajmg.a.34382. Epub 2011 Dec 2.

PMID:
22139980
3.

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 Mar-Apr;55(2):203-6. Review.

PMID:
24192682
4.
5.

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

Obregon MG, Mingarelli R, Digilio MC, Zelante L, Giannotti A, Sabatino G, Dallapiccola B.

Ann Genet. 1992;35(4):208-12.

PMID:
1296516
6.
7.

Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.

Jones C, Slijepcevic P, Marsh S, Baker E, Langdon WY, Richards RI, Tunnacliffe A.

Hum Mol Genet. 1994 Dec;3(12):2123-30.

PMID:
7881408
8.

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. doi: 10.1007/s10875-015-0211-z. Epub 2015 Nov 14.

9.

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. doi: 10.1038/jhg.2010.51. Epub 2010 Jun 3.

PMID:
20520618
10.

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. doi: 10.1002/ajmg.c.31448. Epub 2015 Aug 18. Review.

PMID:
26285164
11.

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.

PMID:
24319861
12.

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 14;15(2). doi: 10.4238/gmr.15028403.

13.

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. doi: 10.1016/j.tjog.2016.12.004.

14.

A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

Şimşek-Kiper PÖ, Bayram Y, Ütine GE, Alanay Y, Boduroğlu K.

Turk J Pediatr. 2014 Jan-Feb;56(1):80-4.

PMID:
24827952
15.

Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).

Basinko A, Audebert-Bellanger S, Douet-Guilbert N, Le Franc J, Parent P, Quemener S, La Selve P, Bovo C, Morel F, Le Bris MJ, De Braekeleer M.

Am J Med Genet A. 2011 Sep;155A(9):2281-7. doi: 10.1002/ajmg.a.34162. Epub 2011 Aug 10.

PMID:
21834034
16.

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.

Am J Med Genet A. 2008 Oct 1;146A(19):2449-54. doi: 10.1002/ajmg.a.32490.

PMID:
18792974
17.

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. doi: 10.1002/ajmg.a.35621. Epub 2012 Sep 10.

PMID:
22965935
18.

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. doi: 10.1007/BF03195639.

PMID:
19029687
19.

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

Van Zutven LJ, van Bever Y, Van Nieuwland CC, Huijbregts GC, Van Opstal D, von Bergh AR, Corel LJ, Tibboel D, Wouters CH, Poddighe PJ.

Am J Med Genet A. 2009 Jul;149A(7):1468-75. doi: 10.1002/ajmg.a.32714. Review.

PMID:
19449434
20.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

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