Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96


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 3;5(3). pii: a004010. doi: 10.1101/mcs.a004010. Print 2019 Jun.


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.


Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.

Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.


Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

Carpinelli MR, Kruse EA, Arhatari BD, Debrincat MA, Ogier JM, Bories JC, Kile BT, Burt RA.

Am J Pathol. 2015 Jul;185(7):1867-76. doi: 10.1016/j.ajpath.2015.03.026.


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. doi: 10.1002/ajmg.a.40481. Epub 2018 Nov 13.


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. doi: 10.1002/ajmg.a.32913.


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 15;19(4):648-56. doi: 10.1093/hmg/ddp532. Epub 2009 Nov 26.


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. doi: 10.1002/ajmg.a.61113. Epub 2019 Mar 19.


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.


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. doi: 10.1002/ajmg.a.36441. Epub 2014 Mar 10.


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. doi: 10.1038/gim.2014.86. Epub 2014 Jul 24.


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. doi: 10.1002/ajmg.a.36292. Epub 2013 Dec 5.


Evidence That Deletion of ETS-1, a Gene in the Jacobsen Syndrome (11q-) Cardiac Critical Region, Causes Congenital Heart Defects through Impaired Cardiac Neural Crest Cell Function.

Ye M, Yin Y, Fukatsu K, Grossfeld P.

In: Nakanishi T, Markwald RR, Baldwin HS, Keller BB, Srivastava D, Yamagishi H, editors. Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology [Internet]. Tokyo: Springer; 2016. Chapter 52.
2016 Jun 25.


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 Sep 17;8:45-9. doi: 10.4137/CMPed.S18121. eCollection 2014.


Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis.

Linares Chávez EP, Toral López J, Valdés Miranda JM, González Huerta LM, Perez Cabrera A, Del Refugio Rivera Vega M, Messina Baas OM, Cuevas-Covarrubias SA.

Mol Syndromol. 2016 Feb;6(5):229-35. doi: 10.1159/000442477. Epub 2015 Dec 18.


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.


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.


A case of Jacobsen syndrome with multifocal white matter lesions.

Yu F, Carter JE, Bazan C 3rd.

Clin Imaging. 2016 Jul-Aug;40(4):705-6. doi: 10.1016/j.clinimag.2016.02.004. Epub 2016 Apr 11.


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.


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 1;140(7):704-8.


Supplemental Content

Support Center