287 related articles for article (PubMed ID: 17203459)
1. 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]
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. 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]
4. 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]
5. "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]
6. 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]
7. 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]
8. Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome.
Bassez G; Camand OJ; Cacheux V; Kobetz A; Dastot-Le Moal F; Marchant D; Catala M; Abitbol M; Goossens M
Neurobiol Dis; 2004 Mar; 15(2):240-50. PubMed ID: 15006694
[TBL] [Abstract][Full Text] [Related]
9. Mowat-Wilson syndrome.
Garavelli L; Mainardi PC
Orphanet J Rare Dis; 2007 Oct; 2():42. PubMed ID: 17958891
[TBL] [Abstract][Full Text] [Related]
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; 22(13):2652-61. PubMed ID: 23466526
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mowat-Wilson syndrome affecting 3 siblings.
Ohtsuka M; Oguni H; Ito Y; Nakayama T; Matsuo M; Osawa M; Saito K; Yamada Y; Wakamatsu N
J Child Neurol; 2008 Mar; 23(3):274-8. PubMed ID: 18230842
[TBL] [Abstract][Full Text] [Related]
13. Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.
Van de Putte T; Francis A; Nelles L; van Grunsven LA; Huylebroeck D
Hum Mol Genet; 2007 Jun; 16(12):1423-36. PubMed ID: 17478475
[TBL] [Abstract][Full Text] [Related]
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; 52(3):339-44. PubMed ID: 21336163
[TBL] [Abstract][Full Text] [Related]
15. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.
Crétolle C; Pelet A; Sanlaville D; Zérah M; Amiel J; Jaubert F; Révillon Y; Baala L; Munnich A; Nihoul-Fékété C; Lyonnet S
Hum Mutat; 2008 Jul; 29(7):903-10. PubMed ID: 18449898
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
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. Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome.
Ishihara N; Shimada A; Kato J; Niimi N; Tanaka S; Miura K; Suzuki T; Wakamatsu N; Nagaya M
J Pediatr Surg; 2005 Sep; 40(9):1411-9. PubMed ID: 16150342
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
