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    Results: 1 to 20 of 112

    1.

    Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis.

    Ahn JW, Mann K, Docherty Z, Mackie Ogilvie C.

    Mol Cytogenet. 2008 Mar 26;1:2.PMID: 18471307 [PubMed - in process]Related articlesFree article

    2.

    Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

    Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K.

    BMC Med Genet. 2007 Mar 5;8:9.PMID: 17338807 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

    Northrop EL, Ren H, Bruno DL, McGhie JD, Coffa J, Schouten J, Choo KH, Slater HR.

    Hum Mutat. 2005 Nov;26(5):477-86.PMID: 16170807 [PubMed - indexed for MEDLINE]Related articles

    4.

    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]Related articlesFree article

    5.

    Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

    Roselló M, Ferrer-Bolufer I, Monfort S, Oltra S, Quiroga R, Martínez F, Gonzalvo M, Benac A, Perales A, Orellana C.

    Eur J Med Genet. 2009 Dec 24. [Epub ahead of print]PMID: 20004752 [PubMed - as supplied by publisher]Related articles

    6.

    High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

    Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, Slater HR.

    Am J Med Genet A. 2006 Dec 15;140(24):2786-93.PMID: 17106871 [PubMed - indexed for MEDLINE]Related articles

    7.

    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]Related articlesFree article

    8.

    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 articles

    9.

    Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

    Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL.

    J Med Genet. 2006 Jun;43(6):478-89. Epub 2005 Sep 30.PMID: 16199540 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    [Detection of subtelomeric rearrangements in patients with idiopathic mental retardation/developmental delay]

    Wu Y, Jiang YW, Wang XZ, Wang HF, Wang JM, Yang YL, Qin J, Zhong N, Wu XR.

    Zhonghua Er Ke Za Zhi. 2007 Dec;45(12):906-11. Chinese. PMID: 18339278 [PubMed - in process]Related articles

    11.

    Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses.

    Schou KV, Kirchhoff M, Nygaard U, Jørgensen C, Sundberg K.

    Ultrasound Obstet Gynecol. 2009 Dec;34(6):618-22.PMID: 19953565 [PubMed - in process]Related articles

    12.

    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]Related articlesFree article

    13.

    Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.

    Cho EH, Park BY, Cho JH, Kang YS.

    Korean J Lab Med. 2009 Feb;29(1):71-6.PMID: 19262082 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.

    Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, David V.

    Hum Mutat. 2007 Dec;28(12):1189-97.PMID: 17683084 [PubMed - indexed for MEDLINE]Related articles

    15.

    Alport syndrome. Molecular genetic aspects.

    Hertz JM.

    Dan Med Bull. 2009 Aug;56(3):105-52.PMID: 19728970 [PubMed - indexed for MEDLINE]Related articles

    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]Related articles

    17.

    Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y.

    Gerdes T, Kirchhoff M, Lind AM, Vestergaard Larsen G, Kjaergaard S.

    Prenat Diagn. 2008 Dec;28(12):1119-25.PMID: 19003800 [PubMed - indexed for MEDLINE]Related articles

    18.

    [Karyotype analysis of chorionic villi from pregnant women with missed abortion using multiplex ligation-dependent probe amplification]

    Gu Y, Xie JS, Luo FW, Geng Q, Zhang HK, Shen HN, Zhao K, Liu QZ.

    Zhonghua Fu Chan Ke Za Zhi. 2009 Jul;44(7):509-13. Chinese. PMID: 19957550 [PubMed - in process]Related articles

    19.

    Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

    Van Opstal D, Boter M, de Jong D, van den Berg C, Brüggenwirth HT, Wildschut HI, de Klein A, Galjaard RJ.

    Eur J Hum Genet. 2009 Jan;17(1):112-21. Epub 2008 Sep 10.PMID: 18781187 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    MLPA subtelomere analysis in Tunisian mentally retarded patients.

    Hila L, Tébourbi H, Abaied L, Rejeb I, Ben Jemaa L, Chaabouni H.

    Biochem Genet. 2009 Oct;47(9-10):727-33. Epub 2009 Jul 10.PMID: 19590834 [PubMed - indexed for MEDLINE]Related articles

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