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245 related items for PubMed ID: 14681759

  • 1. Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).
    Sztriha L, Espinosa-Parrilla Y, Gururaj A, Amiel J, Lyonnet S, Gerami S, Johansen JG.
    Neuropediatrics; 2003 Dec; 34(6):322-5. PubMed ID: 14681759
    [Abstract] [Full Text] [Related]

  • 2. ZFHX1B mutations in patients with Mowat-Wilson syndrome.
    Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M.
    Hum Mutat; 2007 Apr; 28(4):313-21. PubMed ID: 17203459
    [Abstract] [Full Text] [Related]

  • 3. A case of Mowat-Wilson syndrome caused by a truncating mutation within exon 8 of the ZEB2 gene.
    Meral C, Malbora B, Celikel F, Aydemir G, Süleymanoğlu S, Zollino M, Derbent M.
    Turk J Pediatr; 2012 Apr; 54(5):523-7. PubMed ID: 23427518
    [Abstract] [Full Text] [Related]

  • 4. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
    Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A.
    Am J Med Genet; 2002 Mar 15; 108(3):177-81. PubMed ID: 11891681
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  • 5. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
    Ariss M, Natan K, Friedman N, Traboulsi EI.
    Ophthalmic Genet; 2012 Sep 15; 33(3):159-60. PubMed ID: 22486326
    [Abstract] [Full Text] [Related]

  • 6. Mowat-Wilson syndrome: the first two Malaysian cases.
    Balasubramaniam S, Keng WT, Ngu LH, Michel LG, Irina G.
    Singapore Med J; 2010 Mar 15; 51(3):e54-7. PubMed ID: 20428734
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  • 7. Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.
    Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL.
    Eur J Med Genet; 2013 Jun 15; 56(6):297-300. PubMed ID: 23523603
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  • 8. Nonsense mutations of the ZFHX1B gene in two Japanese girls with Mowat-Wilson syndrome.
    Sasongko TH, Sadewa AH, Gunadi, Lee MJ, Koterazawa K, Nishio H.
    Kobe J Med Sci; 2007 Jun 15; 53(4):157-62. PubMed ID: 17932455
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  • 10. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
    Ghoumid J, Drevillon L, Alavi-Naini SM, Bondurand N, Rio M, Briand-Suleau A, Nasser M, Goodwin L, Raymond P, Yanicostas C, Goossens M, Lyonnet S, Mowat D, Amiel J, Soussi-Yanicostas N, Giurgea I.
    Hum Mol Genet; 2013 Jul 01; 22(13):2652-61. PubMed ID: 23466526
    [Abstract] [Full Text] [Related]

  • 11. The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
    Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.
    Am J Med Genet A; 2014 Aug 01; 164A(8):1899-908. PubMed ID: 24715670
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  • 12. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
    Moore SW, Fieggen K, Honey E, Zaahl M.
    J Pediatr Surg; 2016 Feb 01; 51(2):268-71. PubMed ID: 26852091
    [Abstract] [Full Text] [Related]

  • 13. Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.
    McGaughran J, Sinnott S, Dastot-Le Moal F, Wilson M, Mowat D, Sutton B, Goossens M.
    Am J Med Genet A; 2005 Sep 01; 137A(3):302-4. PubMed ID: 16088920
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  • 14. Intrahepatic biliary anomalies in a patient with Mowat-Wilson syndrome uncover a role for the zinc finger homeobox gene zfhx1b in vertebrate biliary development.
    Cui S, Erlichman J, Russo P, Haber BA, Matthews RP.
    J Pediatr Gastroenterol Nutr; 2011 Mar 01; 52(3):339-44. PubMed ID: 21336163
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  • 16. Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.
    Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S.
    Horm Res; 2005 Mar 01; 63(4):187-92. PubMed ID: 15908750
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  • 17. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
    Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S.
    Am J Hum Genet; 2001 Dec 01; 69(6):1370-7. PubMed ID: 11595972
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  • 18. ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
    Buraniqi E, Moodley M.
    J Child Neurol; 2015 Jan 01; 30(1):32-6. PubMed ID: 25028418
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  • 19. Mowat-Wilson syndrome.
    Mowat DR, Wilson MJ, Goossens M.
    J Med Genet; 2003 May 01; 40(5):305-10. PubMed ID: 12746390
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  • 20. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
    Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M.
    Nat Genet; 2001 Apr 01; 27(4):369-70. PubMed ID: 11279515
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