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    Results: 1 to 20 of 94

    1.

    Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

    Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC.

    Mol Cytogenet. 2009 Dec 18;2:27.

    PMID:
    20021661
    [PubMed]
    Free PMC Article
    2.

    15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

    Koochek M, Harvard C, Hildebrand MJ, Van Allen M, Wingert H, Mickelson E, Holden JJ, Rajcan-Separovic E, Lewis ME.

    Clin Genet. 2006 Feb;69(2):124-34.

    PMID:
    16433693
    [PubMed - indexed for MEDLINE]
    3.

    Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

    Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E.

    Am J Hum Genet. 1997 Apr;60(4):928-34.

    PMID:
    9106540
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.

    Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC.

    BMC Genet. 2008 Jan 4;9:2.

    PMID:
    18177502
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

    Depienne C, Moreno-De-Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, Chaste P, Siffroi JP, Chantot-Bastaraud S, Benyahia B, Trouillard O, Nygren G, Kopp S, Johansson M, Rastam M, Burglen L, Leguern E, Verloes A, Leboyer M, Brice A, Gillberg C, Betancur C.

    Biol Psychiatry. 2009 Aug 15;66(4):349-59. Epub 2009 Mar 17.

    PMID:
    19278672
    [PubMed - indexed for MEDLINE]
    6.

    Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

    Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.

    Clin Genet. 2004 Jun;65(6):477-82.

    PMID:
    15151506
    [PubMed - indexed for MEDLINE]
    7.

    Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

    Mohandas TK, Park JP, Spellman RA, Filiano JJ, Mamourian AC, Hawk AB, Belloni DR, Noll WW, Moeschler JB.

    Am J Med Genet. 1999 Feb 12;82(4):294-300.

    PMID:
    10051161
    [PubMed - indexed for MEDLINE]
    8.

    Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

    Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL.

    J Med Genet. 2009 Apr;46(4):242-8. Epub 2008 Sep 19.

    PMID:
    18805830
    [PubMed - indexed for MEDLINE]
    9.

    A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.

    Peeters H, Vermeesch J, Fryns JP.

    Genet Couns. 2008;19(4):365-71.

    PMID:
    19239079
    [PubMed - indexed for MEDLINE]
    10.

    Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.

    Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL.

    Am J Med Genet A. 2005 Dec 1;139A(2):106-13.

    PMID:
    16284940
    [PubMed - indexed for MEDLINE]
    11.

    Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

    Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA.

    Hum Genet. 2007 Jul;121(6):697-709. Epub 2007 Apr 25.

    PMID:
    17457615
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.

    Carelle-Calmels N, Girard-Lemaire F, Guérin E, Bieth E, Rudolf G, Biancalana V, Pecheur H, Demil H, Schneider T, de Saint-Martin A, Caron O, Legrain M, Gaston V, Flori E.

    Eur J Med Genet. 2008 Nov-Dec;51(6):547-57. Epub 2008 Jul 22.

    PMID:
    18692163
    [PubMed - indexed for MEDLINE]
    13.

    The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

    Bolton PF, Dennis NR, Browne CE, Thomas NS, Veltman MW, Thompson RJ, Jacobs P.

    Am J Med Genet. 2001 Dec 8;105(8):675-85. Review.

    PMID:
    11803514
    [PubMed - indexed for MEDLINE]
    14.

    High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.

    Wang NJ, Liu D, Parokonny AS, Schanen NC.

    Am J Hum Genet. 2004 Aug;75(2):267-81. Epub 2004 Jun 11.

    PMID:
    15197683
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    A family with a grand-maternally derived interstitial duplication of proximal 15q.

    Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ.

    Clin Genet. 2001 Dec;60(6):421-30.

    PMID:
    11846734
    [PubMed - indexed for MEDLINE]
    16.

    Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports.

    Simic M, Turk J.

    Eur Child Adolesc Psychiatry. 2004 Dec;13(6):389-93.

    PMID:
    15619052
    [PubMed - indexed for MEDLINE]
    17.

    Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

    Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT Jr, Hennessy MD, Kahler SG.

    Am J Med Genet. 1992 Sep 1;44(1):24-30.

    PMID:
    1519645
    [PubMed - indexed for MEDLINE]
    18.

    Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

    de Ravel T, Aerssens P, Vermeesch JR, Fryns JP.

    Eur J Med Genet. 2005 Jul-Sep;48(3):355-9.

    PMID:
    16179232
    [PubMed - indexed for MEDLINE]
    19.

    Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).

    Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N.

    Am J Med Genet A. 2011 Sep;155A(9):2274-80. doi: 10.1002/ajmg.a.34160. Epub 2011 Aug 10.

    PMID:
    21834029
    [PubMed - in process]
    20.

    Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

    Kwasnicka-Crawford DA, Roberts W, Scherer SW.

    J Autism Dev Disord. 2007 Apr;37(4):694-702.

    PMID:
    17006779
    [PubMed - indexed for MEDLINE]

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