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Page 1
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Vendramini-Pittoli S, Kokitsu-Nakata NM, Zechi-Ceide RM, Sobacchi C. Palagano E, et al. Among authors: kokitsu nakata nm. Bone. 2021 Dec;153:116152. doi: 10.1016/j.bone.2021.116152. Epub 2021 Aug 14. Bone. 2021. PMID: 34400385
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: further evidence for a new disorder.
Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S. Guion-Almeida ML, et al. Am J Med Genet. 1999 Sep 10;86(2):130-3. doi: 10.1002/(sici)1096-8628(19990910)86:2<130::aid-ajmg8>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10449647
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
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.
42 results