Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

    Results: 1 to 20 of 52

    1.

    Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.

    Zhang H, Luo H, Chen H, Mei L, He C, Jiang L, Li JD, Feng Y.

    FEBS Lett. 2012 Nov 30;586(23):4126-31. doi: 10.1016/j.febslet.2012.10.006. Epub 2012 Oct 23.

    PMID:
    23098757
    [PubMed - indexed for MEDLINE]
    2.

    Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

    Kapoor S, Bindu PS, Taly AB, Sinha S, Gayathri N, Rani SV, Chandak GR, Kumar A.

    Mol Vis. 2012;18:2022-32. Epub 2012 Jul 20.

    PMID:
    22876130
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

    Baral V, Chaoui A, Watanabe Y, Goossens M, Attie-Bitach T, Marlin S, Pingault V, Bondurand N.

    PLoS One. 2012;7(7):e41927. doi: 10.1371/journal.pone.0041927. Epub 2012 Jul 27.

    PMID:
    22848661
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

    Siomou E, Manolakos E, Petersen M, Thomaidis L, Gyftodimou Y, Orru S, Papoulidis I.

    Eur J Med Genet. 2012 Nov;55(11):641-5. doi: 10.1016/j.ejmg.2012.07.002. Epub 2012 Jul 25.

    PMID:
    22842075
    [PubMed - indexed for MEDLINE]
    5.

    YY1 regulates melanocyte development and function by cooperating with MITF.

    Li J, Song JS, Bell RJ, Tran TN, Haq R, Liu H, Love KT, Langer R, Anderson DG, Larue L, Fisher DE.

    PLoS Genet. 2012;8(5):e1002688. doi: 10.1371/journal.pgen.1002688. Epub 2012 May 3.

    PMID:
    22570637
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

    Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V.

    Eur J Hum Genet. 2012 Sep;20(9):990-4. doi: 10.1038/ejhg.2012.29. Epub 2012 Feb 29.

    PMID:
    22378281
    [PubMed - indexed for MEDLINE]
    7.

    Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

    Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, Krause A, Chen H, Baumann C, Nunes L, Dollfus H, Goossens M, Pingault V.

    Eur J Hum Genet. 2012 May;20(5):584-7. doi: 10.1038/ejhg.2011.234. Epub 2012 Jan 18.

    PMID:
    22258527
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

    Yan X, Zhang T, Wang Z, Jiang Y, Chen Y, Wang H, Ma D, Wang L, Li H.

    J Genet Genomics. 2011 Dec 20;38(12):585-91. doi: 10.1016/j.jgg.2011.11.003. Epub 2011 Nov 22.

    PMID:
    22196401
    [PubMed - indexed for MEDLINE]
    9.

    Cochlear implantation outcomes in children with Waardenburg syndrome.

    Amirsalari S, Ajallouyean M, Saburi A, Haddadi Fard A, Abed M, Ghazavi Y.

    Eur Arch Otorhinolaryngol. 2012 Oct;269(10):2179-83. doi: 10.1007/s00405-011-1877-3. Epub 2011 Dec 11.

    PMID:
    22159916
    [PubMed - indexed for MEDLINE]
    10.

    Waardenburg Syndrome type 1: A case report.

    Demirci GT, Atıs G, Altunay IK.

    Dermatol Online J. 2011 Nov 15;17(11):3.

    PMID:
    22136859
    [PubMed - indexed for MEDLINE]
    Free Article
    11.

    Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

    Zhang H, Chen H, Luo H, An J, Sun L, Mei L, He C, Jiang L, Jiang W, Xia K, Li JD, Feng Y.

    Hum Genet. 2012 Mar;131(3):491-503. doi: 10.1007/s00439-011-1098-2. Epub 2011 Oct 1.

    PMID:
    21965087
    [PubMed - indexed for MEDLINE]
    12.

    Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

    Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, Bondurand N.

    Hum Mutat. 2011 Dec;32(12):1436-49. doi: 10.1002/humu.21583. Epub 2011 Sep 19.

    PMID:
    21898658
    [PubMed - indexed for MEDLINE]
    13.

    A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.

    Unzicker A, Pingault V, Meyer T, Rauthe S, Schütz A, Kunzmann S.

    Eur J Pediatr. 2011 Nov;170(11):1475-80. doi: 10.1007/s00431-011-1539-x. Epub 2011 Aug 6.

    PMID:
    21822601
    [PubMed - indexed for MEDLINE]
    14.

    Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

    Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Mégarbané A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR.

    PLoS Genet. 2011 Jul;7(7):e1002114. doi: 10.1371/journal.pgen.1002114. Epub 2011 Jul 7.

    PMID:
    21750680
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.

    Jabeen R, Babar ME, Ahmad J, Awan AR.

    Mol Biol Rep. 2012 Jan;39(1):785-8. doi: 10.1007/s11033-011-0799-x. Epub 2011 May 6.

    PMID:
    21547364
    [PubMed - indexed for MEDLINE]
    16.

    Outcomes and special considerations of cochlear implantation in waardenburg syndrome.

    Kontorinis G, Lenarz T, Giourgas A, Durisin M, Lesinski-Schiedat A.

    Otol Neurotol. 2011 Aug;32(6):951-5. doi: 10.1097/MAO.0b013e31821b3ae3.

    PMID:
    21512421
    [PubMed - indexed for MEDLINE]
    17.

    Novel human pathological mutations. Gene symbol: PAX3. Disease: Waardenburg syndrome.

    Kohli S, Saxena R, Verma IC.

    Hum Genet. 2010 Apr;127(4):485. No abstract available.

    PMID:
    21488309
    [PubMed - indexed for MEDLINE]
    18.

    Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome.

    Brenner L, Burke K, Leduc CA, Guha S, Guo J, Chung WK.

    Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):525-9. doi: 10.1089/gtmb.2010.0277. Epub 2011 Mar 27.

    PMID:
    21438779
    [PubMed - indexed for MEDLINE]
    19.

    Waardenburg syndrome.

    Bist J, Adhikari P, Sharma AK.

    Clin Exp Optom. 2011 Mar;94(2):240-2. doi: 10.1111/j.1444-0938.2010.00533.x. Epub 2010 Oct 29. No abstract available.

    PMID:
    21352370
    [PubMed - indexed for MEDLINE]
    20.

    Conversion disorder: a missed diagnosis leading to cochlear reimplantation.

    Carlson ML, Archibald DJ, Gifford RH, Driscoll CL.

    Otol Neurotol. 2011 Jan;32(1):36-8. doi: 10.1097/MAO.0b013e3181fc7888.

    PMID:
    20962703
    [PubMed - indexed for MEDLINE]

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk