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Journal Abstract Search

282 related items for PubMed ID: 24029077

  • 21. A novel nonsense mutation of ZEB2 gene in a Chinese patient with Mowat-Wilson syndrome.
    Hu Y, Peng Q, Ma K, Li S, Rao C, Zhong B, Lu X.
    J Clin Lab Anal; 2020 Sep; 34(9):e23413. PubMed ID: 32519765
    [Abstract] [Full Text] [Related]

  • 22. A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.
    El-Kasti MM, Wells T, Carter DA.
    Hum Mol Genet; 2012 Dec 15; 21(26):5429-42. PubMed ID: 23001561
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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 27; 149A(3):417-26. PubMed ID: 19215041
    [Abstract] [Full Text] [Related]

  • 26. Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.
    Cerruti Mainardi P, Pastore G, Zweier C, Rauch A.
    J Med Genet; 2004 Feb 27; 41(2):e16. PubMed ID: 14757866
    [No Abstract] [Full Text] [Related]

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  • 29. Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection.
    Abdalla EM, Zayed LH.
    J Child Neurol; 2014 Dec 27; 29(12):NP168-70. PubMed ID: 24282181
    [Abstract] [Full Text] [Related]

  • 30. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
    Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM.
    Eur J Med Genet; 2016 Feb 27; 59(2):70-4. PubMed ID: 26721324
    [Abstract] [Full Text] [Related]

  • 31. 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 27; 167(7):1587-92. PubMed ID: 25899569
    [Abstract] [Full Text] [Related]

  • 32. Mowat-Wilson syndrome: neurological and molecular study in seven patients.
    Paz JA, Kim CA, Goossens M, Giurgea I, Marques-Dias MJ.
    Arq Neuropsiquiatr; 2015 Jan 27; 73(1):12-7. PubMed ID: 25608121
    [Abstract] [Full Text] [Related]

  • 33. 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 27; 182(6):1336-1341. PubMed ID: 32196960
    [Abstract] [Full Text] [Related]

  • 34. [Clinical and genetic features of Mowat-Wilson syndrome: an analysis of 3 cases].
    Wang H, Yan YC, Li Q, Zhang Z, Xiao P, Yuan XY, Li L, Jiang Q.
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 May 27; 21(5):468-473. PubMed ID: 31104665
    [Abstract] [Full Text] [Related]

  • 35. Clinical utility gene card for: Mowat-Wilson syndrome.
    Zollino M, Garavelli L, Rauch A.
    Eur J Hum Genet; 2011 Aug 27; 19(8):. PubMed ID: 21343952
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  • 37. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
    Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR.
    Genet Med; 2017 Jun 27; 19(6):691-700. PubMed ID: 27831545
    [Abstract] [Full Text] [Related]

  • 38. Unilateral progressive anterior iris adhesions in Mowat-Wilson syndrome: a new ocular finding.
    Hernández-Marrero D, Junaidi RM, Lyons CJ.
    J AAPOS; 2024 Feb 27; 28(1):103807. PubMed ID: 38218547
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
    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.
    J Med Genet; 2004 May 18; 41(5):387-93. PubMed ID: 15121779
    [No Abstract] [Full Text] [Related]

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