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    Results: 1 to 20 of 151

    1.

    A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.

    Ogilvie CM, Ahn JW, Mann K, Roberts RG, Flinter F.

    Mol Cytogenet. 2009 Feb 24;2:9.PMID: 19239688 [PubMed - in process]Free PMC ArticleFree textRelated citations

    2.

    Distal 22q11.2 microduplication encompassing the BCR gene.

    Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.

    Am J Med Genet A. 2008 Dec 1;146A(23):3075-81.PMID: 19006218 [PubMed - indexed for MEDLINE]Related citations

    3.

    Detailed analysis of 22q11.2 with a high density MLPA probe set.

    Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS.

    Hum Mutat. 2008 Mar;29(3):433-40.PMID: 18033723 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    4.

    Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.

    Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A 3rd, Butler MG, Cooley LD.

    Cytogenet Genome Res. 2009;124(2):113-20. Epub 2009 May 5.PMID: 19420922 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    5.

    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

    Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

    J Med Genet. 2009 Apr;46(4):223-32. Epub 2008 Jun 11.PMID: 18550696 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    6.

    Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

    Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R.

    Am J Med Genet A. 2007 Dec 15;143A(24):2924-30.PMID: 18000985 [PubMed - indexed for MEDLINE]Related citations

    7.

    Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

    Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC.

    Genome Res. 2007 Apr;17(4):482-91. Epub 2007 Mar 9.PMID: 17351135 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    8.

    Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

    Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS.

    Hum Mol Genet. 2000 Mar 1;9(4):489-501.PMID: 10699172 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    9.

    22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

    Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A.

    Am J Hum Genet. 2008 Jan;82(1):214-21.PMID: 18179902 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    10.

    [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization]

    Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO.

    Korean J Lab Med. 2010 Feb;30(1):70-5. Korean. PMID: 20197726 [PubMed - in process]Free ArticleRelated citations

    11.

    Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.

    Dempsey MA, Schwartz S, Waggoner DJ.

    Am J Med Genet A. 2007 May 15;143A(10):1082-6.PMID: 17431914 [PubMed - indexed for MEDLINE]Related citations

    12.

    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

    Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.

    BMC Med Genet. 2009 Jun 2;10:48. Review.PMID: 19490635 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    13.

    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

    Coppinger J, McDonald-McGinn D, Zackai E, Shane K, Atkin JF, Asamoah A, Leland R, Weaver DD, Lansky-Shafer S, Schmidt K, Feldman H, Cohen W, Phalin J, Powell B, Ballif BC, Theisen A, Geiger E, Haldeman-Englert C, Shaikh TH, Saitta S, Bejjani BA, Shaffer LG.

    Hum Mol Genet. 2009 Apr 15;18(8):1377-83. Epub 2009 Feb 3.PMID: 19193630 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    14.

    Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.

    Beaujard MP, Chantot S, Dubois M, Keren B, Carpentier W, Mabboux P, Whalen S, Vodovar M, Siffroi JP, Portnoï MF.

    Eur J Med Genet. 2009 Sep-Oct;52(5):321-7. Epub 2009 May 23.PMID: 19467348 [PubMed - indexed for MEDLINE]Related citations

    15.

    Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

    Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD.

    BMC Med Genomics. 2008 Oct 16;1:50.PMID: 18925931 [PubMed]Free PMC ArticleFree textRelated citations

    16.

    Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.

    Wieser R, Fritz B, Ullmann R, Müller I, Galhuber M, Storlazzi CT, Ramaswamy A, Christiansen H, Shimizu N, Rehder H.

    Hum Mutat. 2005 Aug;26(2):78-83.PMID: 15957176 [PubMed - indexed for MEDLINE]Related citations

    17.

    Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.

    Yang C, Huang CH, Cheong ML, Hung KL, Lin LH, Yu YS, Chien CC, Huang HC, Chen CW, Huang CJ.

    BMC Med Genet. 2009 Feb 25;10:16.PMID: 19243607 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    18.

    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

    Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU.

    Eur J Hum Genet. 2007 Sep;15(9):943-9. Epub 2007 May 23.PMID: 17522620 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    19.

    Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions.

    Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H.

    Eur J Hum Genet. 2008 May;16(5):572-80. Epub 2008 Jan 23.PMID: 18212816 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    20.

    A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

    Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Ståhl T, Komorowski J, Bruder CE, Dumanski JP, Carroll AJ.

    Am J Med Genet A. 2007 Sep 15;143A(18):2178-84.PMID: 17676630 [PubMed - indexed for MEDLINE]Related citations

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