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Results: 1 to 20 of 129

Select item 232456481.

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]

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Select item 231227392.

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]

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Select item 231175963.

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]

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Select item 231004514.

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]

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Select item 230614715.

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]

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Select item 230428116.

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]

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Select item 230007367.

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]

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Select item 229824158.

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]

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Select item 229401659.

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]

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Select item 2293641710.

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]

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Select item 2293209611.

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]

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Select item 2292607812.

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]

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Select item 2292083613.

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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Select item 2292050714.

Pulmonary extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue associated with granulomatous inflammation in a child with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).

Pongpruttipan T, Cook JR, Reyes-Mugica M, Spahr JE, Swerdlow SH.

J Pediatr. 2012 Nov;161(5):954-8. doi: 10.1016/j.jpeds.2012.07.003. Epub 2012 Aug 21.

PMID:: 22920507; [PubMed - indexed for MEDLINE]

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Select item 2291258715.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

PMID:: 22912587; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2289344016.

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW.

Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14.

PMID:: 22893440; [PubMed - indexed for MEDLINE]

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Select item 2287126117.

The chromosome 22q11.2 deletion: from the unification of biomedical fields to a new kind of genetic condition.

Navon D, Shwed U.

Soc Sci Med. 2012 Nov;75(9):1633-41. doi: 10.1016/j.socscimed.2012.06.023. Epub 2012 Jul 21. Review.

PMID:: 22871261; [PubMed - indexed for MEDLINE]

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Select item 2286462818.

Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.

Heimall J, Keller M, Saltzman R, Bunin N, McDonald-McGinn D, Zakai E, de Villartay JP, Moshous D, Ariue B, McCarthy EA, Devlin BH, Parikh S, Buckley RH, Markert ML.

J Clin Immunol. 2012 Oct;32(5):1141-4. doi: 10.1007/s10875-012-9741-9. Epub 2012 Aug 3.

PMID:: 22864628; [PubMed - indexed for MEDLINE]

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Select item 2286355019.

Reduced fractional anisotropy and axial diffusivity in white matter in 22q11.2 deletion syndrome: a pilot study.

Kikinis Z, Asami T, Bouix S, Finn CT, Ballinger T, Tworog-Dube E, Kucherlapati R, Kikinis R, Shenton ME, Kubicki M.

Schizophr Res. 2012 Oct;141(1):35-9. doi: 10.1016/j.schres.2012.06.032. Epub 2012 Aug 3.

PMID:: 22863550; [PubMed - indexed for MEDLINE]

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Select item 2285377820.

Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings.

Radoeva PD, Coman IL, Antshel KM, Fremont W, McCarthy CS, Kotkar A, Wang D, Shprintzen RJ, Kates WR.

Behav Brain Funct. 2012 Aug 1;8:38. doi: 10.1186/1744-9081-8-38.

PMID:: 22853778; [PubMed - indexed for MEDLINE]

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26 free full-text articles in PubMed Central

Genotype-phenotype correlation in 22q11.2 deletion syndrome. [BMC Med Genet. 2012]
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. Epub 2012 Dec 17.
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. [PLoS Genet. 2012]
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.
Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, et al. PLoS Genet. 2012; 8(8):e1002843. Epub 2012 Aug 9.
Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings. [Behav Brain Funct. 2012]
Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings.
Radoeva PD, Coman IL, Antshel KM, Fremont W, McCarthy CS, Kotkar A, Wang D, Shprintzen RJ, Kates WR. Behav Brain Funct. 2012 Aug 1; 8:38. Epub 2012 Aug 1.

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