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    Results: 10

    1.

    LRIG2 mutations cause urofacial syndrome.

    Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG.

    Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11.

    PMID:
    23313374
    [PubMed - indexed for MEDLINE]
    2.

    More than meets the smile: facial muscle expression in children with Ochoa syndrome.

    Ganesan I, Thomas T.

    Med J Malaysia. 2011 Dec;66(5):507-9.

    PMID:
    22390114
    [PubMed - indexed for MEDLINE]
    Free Article
    3.

    Urofacial syndrome.

    Akl KF, Al Momany HM.

    Saudi J Kidney Dis Transpl. 2012 Mar;23(2):346-8.

    PMID:
    22382233
    [PubMed - indexed for MEDLINE]
    Free Article
    4.

    Occurrence of Wilms tumor in a child with urofacial (OCHOA) syndrome.

    Emir S, Kan R, Demir HA, Cakar N, Güler M.

    Pediatr Hematol Oncol. 2011 Oct;28(7):616-8. doi: 10.3109/08880018.2011.600803. Epub 2011 Aug 29. No abstract available.

    PMID:
    21875320
    [PubMed - indexed for MEDLINE]
    5.

    Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes?

    Stamatiou K, Tyritzis S, Karakos C, Skolarikos A.

    Urology. 2011 Oct;78(4):911-3. doi: 10.1016/j.urology.2010.12.061. Epub 2011 Apr 13.

    PMID:
    21492912
    [PubMed - indexed for MEDLINE]
    6.

    Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.

    Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW.

    J Pediatr Urol. 2011 Oct;7(5):569-73. doi: 10.1016/j.jpurol.2011.02.034. Epub 2011 Mar 29.

    PMID:
    21450525
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.

    Gómez García I, Oyenarte I, Martínez-Cruz LA.

    Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Mar 1;67(Pt 3):349-53. doi: 10.1107/S1744309110053856. Epub 2011 Feb 23.

    PMID:
    21393841
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    8.

    First HPSE2 missense mutation in urofacial syndrome.

    Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA.

    Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10.

    PMID:
    21332471
    [PubMed - indexed for MEDLINE]
    9.

    Mutations in HPSE2 cause urofacial syndrome.

    Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG.

    Am J Hum Genet. 2010 Jun 11;86(6):963-9. Erratum in: Am J Hum Genet. 2010 Aug 13;87(2):309.

    PMID:
    20560210
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

    Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY.

    Am J Hum Genet. 2010 Jun 11;86(6):957-62. Erratum in: Am J Hum Genet. 2010 Jul 9;87(1):161. Fisher, Richard B [added].

    PMID:
    20560209
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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