|1|PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. (26979507)
Nakamura T.... Akiyama T.
|2|Jacobsen Syndrome: Surgical Complications due to Unsuspected Diagnosis, the Importance of Molecular Studies in Patients with Craniosynostosis. (26997943)
Linares ChA!vez E.P.... Cuevas-Covarrubias S.A.
|3|Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome. (26093983)
Carpinelli M.R.... Burt R.A.
|4|Jacobsen syndrome: Advances in our knowledge of phenotype and genotype. (26285164)
Favier R.... Grossfeld P.
|5|A Case Report: Jacobsen Syndrome Complicated by Paris-Trousseau Syndrome and Shone's Complex. (26056793)
Malia L.A.... Parikh N.S.
|6|The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency. (26566921)
Dalm V.A.... van der Burg M.
|7|Jacobsen syndrome detected by noninvasive prenatal testing. (25569015)
Lo J.O.... Shaffer B.L.
|8|Cognitive-behavioral characteristics and developmental trajectories in children with deletion 11qter (Jacobsen syndrome), and their relation to deletion size. (25425441)
|9|Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q. (25058499)
Akshoomoff N.... Grossfeld P.D.
|10|Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality. (25288895)
Sheth F.J.... Sheth J.J.
|11|Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region. (24311471)
So J.... Stavropoulos D.J.
|12|'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome. (23586500)
Johnson J.... Reynolds J.
|13|Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report. (24319861)
Sinawat S.... Sinawat S.
|14|Jacobsen syndrome without thrombocytopenia: a case report and review of the literature. (24192682)
NalbantoA9lu B.... MintaA9 N.E.
|15|Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years. (22139980)
Takahashi I.... Yamamoto T.
|16|A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype. (22302716)
Evers C.... Moog U.
|17|Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation. (22876581)
Chen C.P.... Wang W.
|18|Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome. (22965935)
Guerin A.... Chitayat D.
|19|SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome. (22887642)
Trkova M.... Stejskal D.
|20|Blalock-taussig shunt thrombosis prophylaxis in a patient with jacobsen syndrome and thrombocytopenia. (23804479)
Casadonte J.R.... Stapleton G.E.
|21|Hypogammaglobulinemia in a 12-year-old patient with Jacobsen syndrome. (21771150)
FernA!ndez-San JosAc C.... Soler-PalacA-n P.
|22|Janus kinase 3 missense mutation in a child with Jacobsen syndrome. (20568388)
Lotz D.R.... Knutsen A.p.
|23|Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption. (20358622)
Fujita H.... Kosaki K.
|24|Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. (19942620)
Ye M.... Grossfeld P.
|25|Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice. (19533782)
Ye M.... Grossfeld P.
|26|Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome). (20003197)
Manolakos E.... Metaxotou A.
|27|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. (19029687)
Jamsheer A.... Latos-BieleA8ska A.
|28|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). (18792974)
Bernaciak J.... Smigiel R.
|29|Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome). (18618998)
Maas A.P.... Curfs L.M.
|30|Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome). (17551332)
Foley P.... Reardon W.
|31|A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. (17786114)
Courtens W.... Wuyts W.
|32|Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
|33|Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24). (17044870)
Gadzicki D.... Schlegelberger B.
|34|Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome. (16502431)
Wenger S.L.... Hummel M.
|35|Anesthetic implications of Jacobsen syndrome. (16409533)
Blaine Easley R.... Mark Redmond J.
|36|Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. (16419136)
BAPhm D.... Bohlander S.K.
|37|Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. (15887263)
TA1mer Z.... Tommerup N.
|38|Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1). (16222663)
Zahn S.... Engels H.
|39|Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. (15054845)
von Bubnoff D.... Bieber T.
|40|Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. (10494099)
Aalfs C.M.... Wijburg F.A.
|41|Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. (9927483)
Tunnacliffe A.... James M.R.
|42|Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. (9508241)
Michaelis R.C.... Tharapel A.T.
|43|Nuchal thickening in Jacobsen syndrome. (9819862)
McClelland S.M.... Dean J.C.
|44|Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. (8880580)
Pivnick E.K.... Tharapel A.T.
|45|Prenatal ultrasonographic findings associated with Jacobsen syndrome. (7760474)
Wax J.R.... Eggleston M.K.
|46|Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. (7881408)
Jones C.... Tunnacliffe A.
|47|Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. (1296516)
Obregon M.G.... Dallapiccola B.
|48|Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome. (1551671)
Van Hemel J.O.... Oostra B.A.
|49|Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome. (6511057)
Reddy K.S.... Narayanan H.S.
|50|Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. (604495)
Schinzel A.... Moser H.