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Page 1
Symptomatic Chiari I malformation in Kabuki syndrome.
Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE. Ciprero KL, et al. Among authors: donnai d. Am J Med Genet A. 2005 Jan 30;132A(3):273-5. doi: 10.1002/ajmg.a.30387. Am J Med Genet A. 2005. PMID: 15523623
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Hannibal MC, et al. Among authors: donnai d. Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671394 Free PMC article.
Fetal valproate syndrome.
Clayton-Smith J, Donnai D. Clayton-Smith J, et al. Among authors: donnai d. J Med Genet. 1995 Sep;32(9):724-7. doi: 10.1136/jmg.32.9.724. J Med Genet. 1995. PMID: 8544193 Free PMC article. No abstract available.
Biliary atresia in Kabuki syndrome.
McGaughran JM, Donnai D, Clayton-Smith J. McGaughran JM, et al. Among authors: donnai d. Am J Med Genet. 2000 Mar 13;91(2):157-8. Am J Med Genet. 2000. PMID: 10748418 No abstract available.
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Beleza-Meireles A, et al. Among authors: donnai d. Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20. Eur J Med Genet. 2015. PMID: 26206081
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. Wilson M, et al. Among authors: donnai d. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289
259 results