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133 related items for PubMed ID: 38650363

  • 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
    [Abstract] [Full Text] [Related]

  • 22. Recurrent structural malformations identified among Mowat-Wilson syndrome fetuses.
    Zhou Y, Huang J, Cheng YK, Leung TY, Pooh RK, Lo FM, Choy KW.
    Prenat Diagn; 2014 Mar; 34(3):296-8. PubMed ID: 24375696
    [No Abstract] [Full Text] [Related]

  • 23. Mowat-Wilson syndrome detected by using high resolution microarray.
    Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ.
    Gene; 2013 Dec 15; 532(2):307-9. PubMed ID: 24029077
    [Abstract] [Full Text] [Related]

  • 24. Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
    Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R.
    J Appl Genet; 2021 Sep 15; 62(3):477-485. PubMed ID: 33982229
    [Abstract] [Full Text] [Related]

  • 25. 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 15; 29(12):NP168-70. PubMed ID: 24282181
    [Abstract] [Full Text] [Related]

  • 26. Neuropathology of Mowat-Wilson Syndrome.
    Conces MR, Hughes A, Pierson CR.
    Pediatr Dev Pathol; 2020 Aug 15; 23(4):322-325. PubMed ID: 32252596
    [Abstract] [Full Text] [Related]

  • 27. 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 15; 164A(8):1899-908. PubMed ID: 24715670
    [Abstract] [Full Text] [Related]

  • 28. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS).
    Moore SW, Fieggen K, Honey E, Zaahl M.
    J Pediatr Surg; 2016 Feb 15; 51(2):268-71. PubMed ID: 26852091
    [Abstract] [Full Text] [Related]

  • 29. Difficult airway in Mowat-Wilson syndrome.
    Packiasabapathy S, Chandiran R, Batra RK, Agarwala S.
    J Clin Anesth; 2016 Nov 15; 34():151-3. PubMed ID: 27687363
    [Abstract] [Full Text] [Related]

  • 30. Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.
    Spaggiari E, Baumann C, Alison M, Oury JF, Belarbi N, Dupont C, Guimiot F, Delezoide AL.
    Eur J Med Genet; 2013 Jun 15; 56(6):297-300. PubMed ID: 23523603
    [Abstract] [Full Text] [Related]

  • 31. Congenital tracheal stenosis in Mowat-Wilson syndrome with nonsense mutation of ZEB2 gene.
    Lin LC, Wen WH, Chen PT.
    Pediatr Neonatol; 2024 Mar 15; 65(2):202-203. PubMed ID: 37980276
    [No Abstract] [Full Text] [Related]

  • 32. 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 15; 41(2):e16. PubMed ID: 14757866
    [No Abstract] [Full Text] [Related]

  • 33. Mowat-Wilson syndrome.
    Steiner CE.
    Arq Neuropsiquiatr; 2015 Jan 15; 73(1):1-2. PubMed ID: 25608118
    [No Abstract] [Full Text] [Related]

  • 34. 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 15; 41(5):387-93. PubMed ID: 15121779
    [No Abstract] [Full Text] [Related]

  • 35. 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 15; 158A(2):358-66. PubMed ID: 22246645
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  • 40. 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 15; 34(9):e23413. PubMed ID: 32519765
    [Abstract] [Full Text] [Related]

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