| 1 | MOWS, ZEB2
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| ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises.
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| Birkhoff JC, Huylebroeck D, Conidi A.
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| Genes (Basel). Jul 3;12(7):1037. doi: 10.3390/genes12071037. 2021
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| 2 | MOWS, ZEB2
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| Role of Zeb2/Sip1 in neuronal development.
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| Epifanova E, Babaev A, Newman AG, Tarabykin V.
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| Brain Res. Feb 15;1705:24-31. doi: 10.1016/j.brainres.2018.09.034. Epub 2018 Sep 25. 2019
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| 3 | MOWS, ZEB2
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| ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
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| 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.
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| Hum Mol Genet 22(13):2652-61. doi: 10.1093/hmg/ddt114. Epub 2013 Mar 5.
2013
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| 4 | MOWS, ZEB2
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| A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.
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| El-Kasti MM, Wells T, Carter DA.
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| Hum Mol Genet 21(26):5429-42. doi: 10.1093/hmg/dds389. Epub 2012 Sep 21.
2012
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| 5 | MOWS, ZEB2
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| Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.
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| 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.
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| Am J Med Genet A 149A(3):417-26. Review.
2009
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| 6 | CCHS1, CCHS3, CHH, GOSHS, HSCR1, HSCR2, HSCR3, HSCR4, HSCR5, MOWS, PCWH, WS4B, WS4A
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| Hirschsprung disease, associated syndromes and genetics: a review.
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| Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.
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| J Med Genet 45(1):1-14. Epub 2007 Oct 26. Review. 2008
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| 7 | MOWS, ZEB2
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| Mowat-Wilson syndrome with craniosynostosis: a case report.
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| Adam MP, Justice AN, Bean LJ, Fernhoff PM.
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| Am J Med Genet A 146A(2):245-6. No abstract available.
2008
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| 8 | ACLS1, ACS1, AIC, ATRX, CFNS, COMA, CSS, DCX, FCMD, FCMD, FGS1, FRNS, GCPS, LJFS2, MASA, MDS, MEB, MKS1, MLS, MOWS, NBCCS2, OFD1, OGS1, OGS2, RSTS2, SOPT, WARBM1, WLKWS1, WLKWS2, XLAG
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| Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
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| Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.
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| Am J Med Genet A 146A(19):2501-11. 2008
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| 9 | MOWS, ZEB2
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| Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.
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| Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F.
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| Am J Med Genet A 146A(23):3095-9. No abstract available.
2008
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| 10 | ZEB2, MOWS
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| ZFHX1B mutations in patients with Mowat-Wilson syndrome.
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| Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M.
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| Hum Mutat 28(4):313-321 [Epub ahead of print] 2007
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| 11 | MOWS, ZEB2
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| A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
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| Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C.
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| Eur J Med Genet 50(2):149-54. Epub 2006 Dec 8. 2007
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| 12 | ZEB2, MOWS
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| Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.
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| Zweier C, Horn D, Kraus C, Rauch A.
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| Am J Med Genet A 140(8):869-72. 2006
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| 13 | ZEB2, MOWS
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| A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
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| Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.
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| Am J Med Genet A 140(11):1223-7. 2006
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| 14 | ZEB2, MOWS
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| 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.
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| 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.
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| Horm Res 63(4):187-92. Epub 2005 May 20. 2005
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| 15 | ZEB2, MOWS
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| Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
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| Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N.
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| J Med Genet 41(5):387-93. No abstract available. 2004
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| 16 | ZEB2, MOWS
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| Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.
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| Cerruti Mainardi P, Pastore G, Zweier C, Rauch A.
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| J Med Genet 41(2):e16. No abstract available. 2004
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| 17 | ZEB2, MOWS
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| Mowat-Wilson syndrome.
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| Mowat DR, Wilson MJ, Goossens M.
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| J Med Genet 40(5):305-10. Review. 2003
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| 18 | ZEB2, MOWS
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| Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
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| Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kaariainen 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.
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| Am J Med Genet 119A(3):257-65. 2003
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| 19 | ZEB2, MOWS
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| 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.
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| Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A.
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| Am J Med Genet 108(3):177-81. 2002
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| 20 | KYNU, ZEB2, MOWS
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| Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
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| 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.
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| Nat Genet 27(4):369-70. 2001
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| 21 | HNMT, ZEB2, MOWS
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| Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
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| Cacheux V, Dastot-Le Moal F, Kaariainen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M.
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| Hum Mol Genet 10(14):1503-10. 2001
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| 22 | ZEB2, MOWS
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| Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
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| 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.
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| Am J Hum Genet 69(6):1370-7. 2001
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| 23 | ZEB2, MOWS
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| Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
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| Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya M, Wakamatsu N.
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| Am J Hum Genet 69(6):1178-85. 2001
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| 24 | ZEB2, MOWS
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| Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features : delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
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| Mowat DR, et al.
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| J Med Genet 35 : 617-623. 1998
|