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Page 1
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
Lower lip pits and anorectal anomalies in Kabuki syndrome.
Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML. Kokitsu-Nakata NM, et al. Am J Med Genet. 1999 Sep 17;86(3):282-4. doi: 10.1002/(sici)1096-8628(19990917)86:3<282::aid-ajmg17>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10482881
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
Kokitsu-Nakata NM, Petrin AL, Heard JP, Vendramini-Pittoli S, Henkle LE, dos Santos DV, Murray JC, Richieri-Costa A. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2012 Aug;158A(8):2003-8. doi: 10.1002/ajmg.a.35454. Epub 2012 Jun 27. Am J Med Genet A. 2012. PMID: 22740433 Free PMC article.
Auriculo-condylar syndrome: additional patients.
Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Kokitsu-Nakata NM. Guion-Almeida ML, et al. Am J Med Genet. 2002 Oct 1;112(2):209-14. doi: 10.1002/ajmg.10631. Am J Med Genet. 2002. PMID: 12244558
Aural atresia and microtia in Kabuki syndrome.
Kokitsu-Nakata NM, Guion-Almeida ML. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2003 May 1;118A(4):391-3. doi: 10.1002/ajmg.a.10189. Am J Med Genet A. 2003. PMID: 12687675 No abstract available.
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Richieri-Costa A, et al. Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28. Am J Med Genet A. 2019. PMID: 31353810
Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients.
Guion-Almeida ML, Rodini ES, Kokitsu-Nakata NM, Bologna-Amantini D. Guion-Almeida ML, et al. Am J Med Genet. 1998 Mar 5;76(2):133-6. doi: 10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co;2-u. Am J Med Genet. 1998. PMID: 9511975
Smith-Fineman-Myers syndrome in apparently monozygotic twins.
Guion-Almeida ML, Tabith A Jr, Kokitsu-Nakata NM, Zechi RM. Guion-Almeida ML, et al. Am J Med Genet. 1998 Sep 23;79(3):205-8. doi: 10.1002/(sici)1096-8628(19980923)79:3<205::aid-ajmg11>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9788563 Review.
Auriculo-condylar syndrome. Confronting a diagnostic challenge.
Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, Romanelli Tavares VL, Passos-Bueno MR, Guion-Almeida ML. Kokitsu-Nakata NM, et al. Am J Med Genet A. 2012 Jan;158A(1):59-65. doi: 10.1002/ajmg.a.34337. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105959
42 results