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    Results: 9

    1.

    Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

    Gazzerro E, Baldassari S, Giacomini C, Musante V, Fruscione F, La Padula V, Biancheri R, Scarfì S, Prada V, Sotgia F, Duncan ID, Zara F, Werner HB, Lisanti MP, Nobbio L, Corradi A, Minetti C.

    PLoS One. 2012;7(3):e32180. doi: 10.1371/journal.pone.0032180. Epub 2012 Mar 26.

    PMID:
    22461884
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

    Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.

    Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Erratum in: Am J Hum Genet. 2012 Feb 10;90(2):378.

    PMID:
    22243965
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Hypomyelination and congenital cataract: broadening the clinical phenotype.

    Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI.

    Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Review.

    PMID:
    21911699
    [PubMed - indexed for MEDLINE]
    4.

    Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

    Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS.

    Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257.

    PMID:
    20881161
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder.

    Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P.

    AJNR Am J Neuroradiol. 2008 Feb;29(2):301-5. Epub 2007 Nov 1.

    PMID:
    17974614
    [PubMed - indexed for MEDLINE]
    Free Article
    6.

    A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.

    Ugur SA, Tolun A.

    Eur J Hum Genet. 2008 Feb;16(2):261-4. Epub 2007 Oct 10.

    PMID:
    17928815
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    Phenotypic characterization of hypomyelination and congenital cataract.

    Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C.

    Ann Neurol. 2007 Aug;62(2):121-7.

    PMID:
    17683097
    [PubMed - indexed for MEDLINE]
    8.

    Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

    Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C.

    Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3.

    PMID:
    16951682
    [PubMed - indexed for MEDLINE]
    9.

    Congenital cataracts-facial dysmorphism-neuropathy.

    Kalaydjieva L.

    Orphanet J Rare Dis. 2006 Aug 29;1:32. Review.

    PMID:
    16939648
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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