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Journal Abstract Search

398 related items for PubMed ID: 23322667

  • 21. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
    Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.
    Genet Med; 2018 Sep; 20(9):965-975. PubMed ID: 29300384
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  • 23. ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome.
    Buraniqi E, Moodley M.
    J Child Neurol; 2015 Jan; 30(1):32-6. PubMed ID: 25028418
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  • 27. Mowat-Wilson syndrome in a Chinese population: A case series.
    Ho S, Luk HM, Chung BH, Fung JL, Mak HH, Lo IFM.
    Am J Med Genet A; 2020 Jun; 182(6):1336-1341. PubMed ID: 32196960
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  • 30. 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 01; 140(11):1223-7. PubMed ID: 16688751
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  • 31. 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 15; 140(24):2730-41. PubMed ID: 17103451
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  • 33. Neurological Phenotype of Mowat-Wilson Syndrome.
    Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E.
    Genes (Basel); 2021 Jun 27; 12(7):. PubMed ID: 34199024
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  • 34. Mowat-Wilson syndrome.
    Mowat DR, Wilson MJ, Goossens M.
    J Med Genet; 2003 May 27; 40(5):305-10. PubMed ID: 12746390
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  • 35. The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome.
    Frith K, Munier CML, Hastings L, Mowat D, Wilson M, Seddiki N, Macintosh R, Kelleher AD, Gray P, Zaunders JJ.
    Int J Mol Sci; 2021 May 18; 22(10):. PubMed ID: 34070208
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  • 37. 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 15; 119A(3):257-65. PubMed ID: 12784289
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  • 39. 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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