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    Results: 15

    1.

    Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

    Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A.

    Mol Genet Metab. 2012 Mar;105(3):438-42. doi: 10.1016/j.ymgme.2011.11.196. Epub 2011 Dec 2.

    PMID:
    22178352
    [PubMed - indexed for MEDLINE]
    2.

    Two adjacent mutations on chromosome 16 discovered in a patient presenting with generalized convulsions after influenza A virus infection.

    Iwasaki Y, Takahashi M, Nozu K, Matsumoto S, Koshiyama H.

    Intern Med. 2011;50(19):2179-83. Epub 2011 Oct 4.

    PMID:
    21970949
    [PubMed - indexed for MEDLINE]
    Free Article
    3.

    Dissecting the transcriptional regulatory properties of human chromosome 16 highly conserved non-coding regions.

    Royo JL, Hidalgo C, Roncero Y, Seda MA, Akalin A, Lenhard B, Casares F, Gómez-Skarmeta JL.

    PLoS One. 2011;6(9):e24824. doi: 10.1371/journal.pone.0024824. Epub 2011 Sep 13.

    PMID:
    21935474
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

    Ceballos-Picot I, Guest G, Moriniere V, Mockel L, Daudon M, Malan V, Antignac C, Heidet L.

    Clin Genet. 2011 Aug;80(2):199-201. doi: 10.1111/j.1399-0004.2011.01626.x. No abstract available.

    PMID:
    21749366
    [PubMed - indexed for MEDLINE]
    5.

    Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.

    Odak L, Barisić I, Morozin Pohovski L, Riegel M, Schinzel A.

    Croat Med J. 2011 Jun;52(3):415-22.

    PMID:
    21674840
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

    Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B.

    Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24.

    PMID:
    21349918
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Interstitial duplication in the proximal long arm of chromosome 16.

    Hansson K, Dauwerse H, Gijsbers A, van Diepen M, Ruivenkamp C, Kant S.

    Am J Med Genet A. 2010 Jul;152A(7):1858-61. doi: 10.1002/ajmg.a.33434. No abstract available.

    PMID:
    20583185
    [PubMed - indexed for MEDLINE]
    8.

    Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.

    Witte MH, Erickson RP, Khalil M, Dellinger M, Bernas M, Grogan T, Nitta H, Feng J, Duggan D, Witte CL.

    Lymphology. 2009 Dec;42(4):152-60.

    PMID:
    20218083
    [PubMed - indexed for MEDLINE]
    9.

    Prenatal diagnosis of a de novo supernumerary marker chromosome originating from chromosome 16.

    Yakut S, Cetin Z, Simşek M, Karaüzüm SB, Tükün A, Lüleci G.

    Genet Couns. 2009;20(4):327-32.

    PMID:
    20162867
    [PubMed - indexed for MEDLINE]
    10.

    Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families.

    Wang X, Sun W, Zhu X, Li L, Du T, Mao W, Wu X, Wei H, Zhu S, Sun Y, Liu Y, Niu N, Wang Y, Liu Y.

    Eur J Neurol. 2010 Jun 1;17(6):800-7. doi: 10.1111/j.1468-1331.2009.02929.x. Epub 2010 Feb 10.

    PMID:
    20158512
    [PubMed - indexed for MEDLINE]
    11.

    Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

    Dastani Z, Pajukanta P, Marcil M, Rudzicz N, Ruel I, Bailey SD, Lee JC, Lemire M, Faith J, Platko J, Rioux J, Hudson TJ, Gaudet D, Engert JC, Genest J.

    Eur J Hum Genet. 2010 Mar;18(3):342-7. doi: 10.1038/ejhg.2009.157. Epub 2009 Oct 21.

    PMID:
    19844255
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.

    Melo JB, Matoso E, Polityko A, Saraiva J, Backx L, Vermeesch JR, Kosyakova N, Ewers E, Liehr T, Carreira IM.

    Cytogenet Genome Res. 2009;125(2):109-14. doi: 10.1159/000227834. Epub 2009 Aug 31.

    PMID:
    19729913
    [PubMed - indexed for MEDLINE]
    13.

    Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

    Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.

    Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

    PMID:
    19251627
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Establishment and characterization of a new human acute myelocytic leukemia cell line SH-2 with a loss of Y chromosome, a derivative chromosome 16 resulting from an unbalanced translocation between chromosomes 16 and 17, monosomy 17, trisomy 19, and p53 alteration.

    Qiu H, Xue Y, Zhang J, Pan J, Dai H, Wu Y, Wang Y, Chen S, Wu D.

    Exp Hematol. 2008 Nov;36(11):1487-95. doi: 10.1016/j.exphem.2008.06.013. Epub 2008 Aug 19.

    PMID:
    18715689
    [PubMed - indexed for MEDLINE]
    15.

    Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis.

    Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, Leopairut J, Yanatatsaneejit P, Rattanatanyong P, Munkongdee T, Fucharoen S, Mutirangura A.

    Clin Genet. 2008 Sep;74(3):284-7. doi: 10.1111/j.1399-0004.2008.01046.x. Epub 2008 Jun 28. No abstract available.

    PMID:
    18564363
    [PubMed - indexed for MEDLINE]

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