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    Results: 1 to 20 of 133

    1.

    Transient effect of anti-CD20 therapy in a child with 22q11.2 deletion syndrome and severe steroid refractory cytopenias: a case report.

    Soldatou A, Anastassiou T, Vougiouka O, Goussetis E, Kossiva L.

    J Pediatr Hematol Oncol. 2013 May;35(4):311-4. doi: 10.1097/MPH.0b013e31828be602.

    PMID:
    23612383
    [PubMed - indexed for MEDLINE]
    2.

    Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.

    de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NS.

    Clin Immunol. 2013 Apr;147(1):11-22. doi: 10.1016/j.clim.2013.01.011. Epub 2013 Jan 30.

    PMID:
    23454892
    [PubMed - indexed for MEDLINE]
    3.

    Genotype-phenotype correlation in 22q11.2 deletion syndrome.

    Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D.

    BMC Med Genet. 2012 Dec 17;13:122. doi: 10.1186/1471-2350-13-122.

    PMID:
    23245648
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Small regulatory RNAs controlled by genomic imprinting and their contribution to human disease.

    Girardot M, Cavaillé J, Feil R.

    Epigenetics. 2012 Dec 1;7(12):1341-8. doi: 10.4161/epi.22884. Epub 2012 Nov 15. Review.

    PMID:
    23154539
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Social cognition in 22q11.2 microdeletion syndrome: relevance to psychosis?

    Jalbrzikowski M, Carter C, Senturk D, Chow C, Hopkins JM, Green MF, Galván A, Cannon TD, Bearden CE.

    Schizophr Res. 2012 Dec;142(1-3):99-107. doi: 10.1016/j.schres.2012.10.007. Epub 2012 Oct 31.

    PMID:
    23122739
    [PubMed - indexed for MEDLINE]
    6.

    An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome.

    Angkustsiri K, Leckliter I, Tartaglia N, Beaton EA, Enriquez J, Simon TJ.

    J Dev Behav Pediatr. 2012 Nov-Dec;33(9):713-20. doi: 10.1097/DBP.0b013e318272dd24. Erratum in: J Dev Behav Pediatr. 2013 Jan;34(1):62.

    PMID:
    23117596
    [PubMed - indexed for MEDLINE]
    7.

    Genomic disorders on chromosome 22.

    Yu S, Graf WD, Shprintzen RJ.

    Curr Opin Pediatr. 2012 Dec;24(6):665-71. doi: 10.1097/MOP.0b013e328358acd0. Review.

    PMID:
    23111679
    [PubMed - indexed for MEDLINE]
    8.

    The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis.

    Catalina-Rodriguez O, Kolukula VK, Tomita Y, Preet A, Palmieri F, Wellstein A, Byers S, Giaccia AJ, Glasgow E, Albanese C, Avantaggiati ML.

    Oncotarget. 2012 Oct;3(10):1220-35.

    PMID:
    23100451
    [PubMed - indexed for MEDLINE]
    Free Article
    9.

    22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development.

    Maynard TM, Gopalakrishna D, Meechan DW, Paronett EM, Newbern JM, LaMantia AS.

    Hum Mol Genet. 2013 Jan 15;22(2):300-12. doi: 10.1093/hmg/dds429. Epub 2012 Oct 16.

    PMID:
    23077214
    [PubMed - indexed for MEDLINE]
    10.

    Thromboelastography to monitor the intra-operative effects of low-molecular weight heparin following bridging anticoagulation in a child with normal renal function*.

    Casey ME, Hodges O, Dunn R, Thomas J.

    Anaesthesia. 2013 Jan;68(1):91-6. doi: 10.1111/anae.12040. Epub 2012 Oct 12.

    PMID:
    23061471
    [PubMed - indexed for MEDLINE]
    11.

    Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

    Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW.

    J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5.

    PMID:
    23042811
    [PubMed - indexed for MEDLINE]
    12.

    Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes.

    Chinnadurai S, Goudy S.

    Curr Opin Otolaryngol Head Neck Surg. 2012 Dec;20(6):502-6. doi: 10.1097/MOO.0b013e328359b476. Review.

    PMID:
    23000736
    [PubMed - indexed for MEDLINE]
    13.

    Transrepression activity of T-box1 in a gene regulation network in mouse cells.

    Yee KK, Yagi H, Matsuoka R, Nakanishi T, Furukawa T.

    Gene. 2012 Dec 1;510(2):162-70. doi: 10.1016/j.gene.2012.09.017. Epub 2012 Sep 14.

    PMID:
    22982415
    [PubMed - indexed for MEDLINE]
    14.

    Deficits in mental state attributions in individuals with 22q11.2 deletion syndrome (velo-cardio-facial syndrome).

    Ho JS, Radoeva PD, Jalbrzikowski M, Chow C, Hopkins J, Tran WC, Mehta A, Enrique N, Gilbert C, Antshel KM, Fremont W, Kates WR, Bearden CE.

    Autism Res. 2012 Dec;5(6):407-18. doi: 10.1002/aur.1252. Epub 2012 Sep 7.

    PMID:
    22962003
    [PubMed - indexed for MEDLINE]
    15.

    Subtypes in 22q11.2 deletion syndrome associated with behaviour and neurofacial morphology.

    Sinderberry B, Brown S, Hammond P, Stevens AF, Schall U, Murphy DG, Murphy KC, Campbell LE.

    Res Dev Disabil. 2013 Jan;34(1):116-25. doi: 10.1016/j.ridd.2012.07.025. Epub 2012 Aug 30.

    PMID:
    22940165
    [PubMed - indexed for MEDLINE]
    16.

    Rearrangement in 22q11 implicated in Iranian patients with mental retardation.

    Mona M, Mehrdad N, Mehrdad B, Elham N, Khazamipour N.

    Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1604-9. doi: 10.1016/j.ijporl.2012.07.029. Epub 2012 Aug 30.

    PMID:
    22939590
    [PubMed - indexed for MEDLINE]
    17.

    Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians.

    Faux D, Schoch K, Eubanks S, Hooper SR, Shashi V.

    J Genet Couns. 2012 Dec;21(6):835-44. doi: 10.1007/s10897-012-9535-5. Epub 2012 Aug 31.

    PMID:
    22936417
    [PubMed - indexed for MEDLINE]
    18.

    Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.

    Shea YF, Lee CH, Gill H, Chow WS, Lam YM, Luk HM, Lam ST, Chu LW.

    Chin Med J (Engl). 2012 Aug;125(16):2945-7.

    PMID:
    22932096
    [PubMed - indexed for MEDLINE]
    Free Article
    19.

    Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

    de Queiroz Soares DC, Dutra RL, D'angioli Costa Quaio CR, Melaragno MI, Kulikowski LD, Torres LC, Kim CA.

    Clin Immunol. 2012 Oct;145(1):55-8. doi: 10.1016/j.clim.2012.07.013. Epub 2012 Aug 6. No abstract available.

    PMID:
    22926078
    [PubMed - indexed for MEDLINE]
    20.

    Hippocampal volume reduction in chromosome 22q11.2 deletion syndrome (22q11.2DS): a longitudinal study of morphometry and symptomatology.

    Flahault A, Schaer M, Ottet MC, Debbané M, Eliez S.

    Psychiatry Res. 2012 Jul 30;203(1):1-5. doi: 10.1016/j.pscychresns.2011.09.003. Epub 2012 Aug 21.

    PMID:
    22920836
    [PubMed - indexed for MEDLINE]

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