BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 20428734)

  • 1. Mowat-Wilson syndrome: the first two Malaysian cases.
    Balasubramaniam S; Keng WT; Ngu LH; Michel LG; Irina G
    Singapore Med J; 2010 Mar; 51(3):e54-7. PubMed ID: 20428734
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and mutational spectrum of Mowat-Wilson syndrome.
    Zweier C; Thiel CT; Dufke A; Crow YJ; Meinecke P; Suri M; Ala-Mello S; Beemer F; Bernasconi S; Bianchi P; Bier A; Devriendt K; Dimitrov B; Firth H; Gallagher RC; Garavelli L; Gillessen-Kaesbach G; Hudgins L; Kääriäinen H; Karstens S; Krantz I; Mannhardt A; Medne L; Mücke J; Kibaek M; Krogh LN; Peippo M; Rittinger O; Schulz S; Schelley SL; Temple IK; Dennis NR; Van der Knaap MS; Wheeler P; Yerushalmi B; Zenker M; Seidel H; Lachmeijer A; Prescott T; Kraus C; Lowry RB; Rauch A
    Eur J Med Genet; 2005; 48(2):97-111. PubMed ID: 16053902
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mowat-Wilson syndrome.
    Garavelli L; Mainardi PC
    Orphanet J Rare Dis; 2007 Oct; 2():42. PubMed ID: 17958891
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 53(4):157-62. PubMed ID: 17932455
    [TBL] [Abstract][Full Text] [Related]  

  • 6. "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; 108(3):177-81. PubMed ID: 11891681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 22(13):2652-61. PubMed ID: 23466526
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mowat-Wilson syndrome.
    Mowat DR; Wilson MJ; Goossens M
    J Med Genet; 2003 May; 40(5):305-10. PubMed ID: 12746390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.
    Ariss M; Natan K; Friedman N; Traboulsi EI
    Ophthalmic Genet; 2012 Sep; 33(3):159-60. PubMed ID: 22486326
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 137A(3):302-4. PubMed ID: 16088920
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 54(5):523-7. PubMed ID: 23427518
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
    Garavelli L; Zollino M; Mainardi PC; Gurrieri F; Rivieri F; Soli F; Verri R; Albertini E; Favaron E; Zignani M; Orteschi D; Bianchi P; Faravelli F; Forzano F; Seri M; Wischmeijer A; Turchetti D; Pompilii E; Gnoli M; Cocchi G; Mazzanti L; Bergamaschi R; De Brasi D; Sperandeo MP; Mari F; Uliana V; Mostardini R; Cecconi M; Grasso M; Sassi S; Sebastio G; Renieri A; Silengo M; Bernasconi S; Wakamatsu N; Neri G
    Am J Med Genet A; 2009 Mar; 149A(3):417-26. PubMed ID: 19215041
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 56(6):297-300. PubMed ID: 23523603
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mowat-Wilson syndrome: an underdiagnosed syndrome?
    Engenheiro E; Møller RS; Pinto M; Soares G; Nikanorova M; Carreira IM; Ullmann R; Tommerup N; Tümer Z
    Clin Genet; 2008 Jun; 73(6):579-84. PubMed ID: 18445050
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 63(4):187-92. PubMed ID: 15908750
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
    Moore SW; Fieggen K; Honey E; Zaahl M
    J Pediatr Surg; 2016 Feb; 51(2):268-71. PubMed ID: 26852091
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
    Wenger TL; Harr M; Ricciardi S; Bhoj E; Santani A; Adam MP; Barnett SS; Ganetzky R; McDonald-McGinn DM; Battaglia D; Bigoni S; Selicorni A; Sorge G; Monica MD; Mari F; Andreucci E; Romano S; Cocchi G; Savasta S; Malbora B; Marangi G; Garavelli L; Zollino M; Zackai EH
    Am J Med Genet A; 2014 Oct; 164A(10):2557-66. PubMed ID: 25123255
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 164A(8):1899-908. PubMed ID: 24715670
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mowat-Wilson syndrome: a report of three Danish cases].
    Nissen KB; Søndergaard C; Thelle T; Møller RS
    Ugeskr Laeger; 2011 Sep; 173(36):2199-200. PubMed ID: 21893004
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.