274 related articles for article (PubMed ID: 16688751)
1. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
Heinritz W; Zweier C; Froster UG; Strenge S; Kujat A; Syrbe S; Rauch A; Schuster V
Am J Med Genet A; 2006 Jun; 140(11):1223-7. PubMed ID: 16688751
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Polymicrogyria in a 10-month-old boy with Mowat-Wilson syndrome.
Murray SB; Spangler BB; Helm BM; Vergano SS
Am J Med Genet A; 2015 Oct; 167A(10):2402-5. PubMed ID: 26012591
[TBL] [Abstract][Full Text] [Related]
4. The behavioral phenotype of Mowat-Wilson syndrome.
Evans E; Einfeld S; Mowat D; Taffe J; Tonge B; Wilson M
Am J Med Genet A; 2012 Feb; 158A(2):358-66. PubMed ID: 22246645
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.
Garavelli L; Donadio A; Zanacca C; Banchini G; Della Giustina E; Bertani G; Albertini G; Del Rossi C; Zweier C; Rauch A; Zollino M; Neri G
Am J Med Genet A; 2003 Feb; 116A(4):385-8. PubMed ID: 12522797
[No Abstract] [Full Text] [Related]
7. Mowat-Wilson syndrome.
Garavelli L; Mainardi PC
Orphanet J Rare Dis; 2007 Oct; 2():42. PubMed ID: 17958891
[TBL] [Abstract][Full Text] [Related]
8. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
Bourchany A; Giurgea I; Thevenon J; Goldenberg A; Morin G; Bremond-Gignac D; Paillot C; Lafontaine PO; Thouvenin D; Massy J; Duncombe A; Thauvin-Robinet C; Masurel-Paulet A; Chehadeh SE; Huet F; Bron A; Creuzot-Garcher C; Lyonnet S; Faivre L
Am J Med Genet A; 2015 Jul; 167(7):1587-92. PubMed ID: 25899569
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M; Mowat D; Dastot-Le Moal F; Cacheux V; Kääriäinen H; Cass D; Donnai D; Clayton-Smith J; Townshend S; Curry C; Gattas M; Braddock S; Kerr B; Aftimos S; Zehnwirth H; Barrey C; Goossens M
Am J Med Genet A; 2003 Jun; 119A(3):257-65. PubMed ID: 12784289
[TBL] [Abstract][Full Text] [Related]
13. Mowat--Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816).
Sasso A; Paucić-Kirincić E; Kamber-Makek S; Sindicić N; Brajnović-Zaputović S; Brajenović-Milić B
Childs Nerv Syst; 2008 May; 24(5):615-8. PubMed ID: 18259761
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.
Zweier C; Temple IK; Beemer F; Zackai E; Lerman-Sagie T; Weschke B; Anderson CE; Rauch A
J Med Genet; 2003 Aug; 40(8):601-5. PubMed ID: 12920073
[No Abstract] [Full Text] [Related]
18. "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]
19. Clinical features and management issues in Mowat-Wilson syndrome.
Adam MP; Schelley S; Gallagher R; Brady AN; Barr K; Blumberg B; Shieh JT; Graham J; Slavotinek A; Martin M; Keppler-Noreuil K; Storm AL; Hudgins L
Am J Med Genet A; 2006 Dec; 140(24):2730-41. PubMed ID: 17103451
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]