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    Results: 1 to 20 of 100

    1.

    Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.

    Auber B, Bruemmer V, Zoll B, Burfeind P, Boehm D, Liehr T, Brockmann K, Wilichowski E, Argyriou L, Bartels I.

    Mol Cytogenet. 2009 Mar 12;2:10.

    PMID:
    19284615
    [PubMed]
    Free PMC Article
    2.

    Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.

    Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, Gao Z, Yang Y, Cai B, Wang L, Zhou Z, Tian L, Wang X, Zhong N, Qin J, Wu X, Jiang Y.

    BMC Med Genet. 2010 May 11;11:72.

    PMID:
    20459802
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.

    Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW.

    Am J Med Genet A. 2008 Sep 1;146A(17):2242-51.

    PMID:
    18663743
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    The use of array-CGH in a cohort of Greek children with developmental delay.

    Manolakos E, Vetro A, Kefalas K, Rapti SM, Louizou E, Garas A, Kitsos G, Vasileiadis L, Tsoplou P, Eleftheriades M, Peitsidis P, Orru S, Liehr T, Petersen MB, Thomaidis L.

    Mol Cytogenet. 2010 Nov 9;3:22.

    PMID:
    21062444
    [PubMed]
    Free PMC Article
    5.

    Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

    Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA.

    J Med Genet. 2004 Dec;41(12):892-9.

    PMID:
    15591274
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.

    Boehm D, Herold S, Kuechler A, Liehr T, Laccone F.

    Hum Mutat. 2004 Apr;23(4):368-78.

    PMID:
    15024731
    [PubMed - indexed for MEDLINE]
    7.

    Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

    Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM.

    J Med Genet. 2005 Feb;42(2):121-8.

    PMID:
    15689449
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    Subtelomeric imbalances in phenotypically normal individuals.

    Balikova I, Menten B, de Ravel T, Le Caignec C, Thienpont B, Urbina M, Doco-Fenzy M, de Rademaeker M, Mortier G, Kooy F, van den Ende J, Devriendt K, Fryns JP, Speleman F, Vermeesch JR.

    Hum Mutat. 2007 Oct;28(10):958-67.

    PMID:
    17492636
    [PubMed - indexed for MEDLINE]
    9.

    Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

    Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR.

    J Med Genet. 2006 Aug;43(8):625-33. Epub 2006 Feb 20.

    PMID:
    16490798
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

    Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P.

    Hum Mutat. 2007 Oct;28(10):1034-42.

    PMID:
    17546640
    [PubMed - indexed for MEDLINE]
    11.

    An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation.

    Toruner GA, Streck DL, Schwalb MN, Dermody JJ.

    Am J Med Genet A. 2007 Apr 15;143A(8):824-9.

    PMID:
    17366576
    [PubMed - indexed for MEDLINE]
    12.

    Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

    Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR.

    Eur J Med Genet. 2011 Jul-Aug;54(4):e425-32. Epub 2011 Mar 30.

    PMID:
    21457803
    [PubMed - indexed for MEDLINE]
    13.

    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 Article
    14.

    Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

    Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP.

    Am J Med Genet A. 2007 Nov 15;143A(22):2700-5.

    PMID:
    17937441
    [PubMed - indexed for MEDLINE]
    15.

    Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

    Aradhya S, Manning MA, Splendore A, Cherry AM.

    Am J Med Genet A. 2007 Jul 1;143A(13):1431-41.

    PMID:
    17568414
    [PubMed - indexed for MEDLINE]
    16.

    Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

    Faas BH, Nillesen W, Vermeer S, Weghuis DO, de Leeuw N, Smits AP, van Ravenswaaij-Arts CM.

    Eur J Med Genet. 2008 Nov-Dec;51(6):511-9. Epub 2008 Jul 19.

    PMID:
    18691679
    [PubMed - indexed for MEDLINE]
    17.

    Pure subtelomeric microduplications as a cause of mental retardation.

    Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB.

    Clin Genet. 2007 Oct;72(4):362-8.

    PMID:
    17850634
    [PubMed - indexed for MEDLINE]
    18.

    DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation.

    Engels H, Brockschmidt A, Hoischen A, Landwehr C, Bosse K, Walldorf C, Toedt G, Radlwimmer B, Propping P, Lichter P, Weber RG.

    Neurology. 2007 Mar 6;68(10):743-50.

    PMID:
    17339581
    [PubMed - indexed for MEDLINE]
    19.

    Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

    Genet Couns. 2005;16(2):129-38.

    PMID:
    16080292
    [PubMed - indexed for MEDLINE]
    20.

    Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

    Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K.

    Eur Heart J. 2007 Nov;28(22):2778-84. Epub 2007 Mar 23.

    PMID:
    17384091
    [PubMed - indexed for MEDLINE]
    Free Article

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