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114 results

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Page 1
Waardenburg syndrome: clinical differentiation between types I and II.
Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Pardono E, et al. Among authors: otto pa. Am J Med Genet A. 2003 Mar 15;117A(3):223-35. doi: 10.1002/ajmg.a.10193. Am J Med Genet A. 2003. PMID: 12599185
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome.
Mazzeu JF, Krepischi-Santos AC, Rosenberg C, Szuhai K, Knijnenburg J, Weiss JM, Kerkis I, Mustacchi Z, Colin G, Mombach R, Pavanello Rde C, Otto PA, Vianna-Morgante AM. Mazzeu JF, et al. Among authors: otto pa. Am J Med Genet A. 2007 Aug 1;143A(15):1790-5. doi: 10.1002/ajmg.a.31661. Am J Med Genet A. 2007. PMID: 17603805 No abstract available.
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Lima AR, et al. Among authors: otto pa. Hum Mutat. 2022 Jul;43(7):900-918. doi: 10.1002/humu.24375. Epub 2022 May 10. Hum Mutat. 2022. PMID: 35344616 Free PMC article.
Notes on the population genetics of fragile X syndrome.
Vianna-Morgante AM, Otto PA. Vianna-Morgante AM, et al. Among authors: otto pa. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):339-44. doi: 10.1002/ajmg.1320430152. Am J Med Genet. 1992. PMID: 1605208
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.
Santos SC, Pardono E, Ferreira da Costa MI, de Melo AN, Graciani Z, de Albuquerque e Souza AC, Lezirovitz K, Thiele-Aguiar RS, Mingroni-Netto RC, Opitz JM, Kok F, Otto PA. Santos SC, et al. Among authors: otto pa. Am J Med Genet A. 2008 Dec 15;146A(24):3126-31. doi: 10.1002/ajmg.a.32580. Am J Med Genet A. 2008. PMID: 19012338
FRAXF in a patient with chromosome 8 duplication.
Vianna-Morgante AM, Mingroni-Netto RC, Barbosa AC, Otto PA, Rosenberg C. Vianna-Morgante AM, et al. Among authors: otto pa. J Med Genet. 1996 Jul;33(7):611-4. doi: 10.1136/jmg.33.7.611. J Med Genet. 1996. PMID: 8818952 Free PMC article.
Encomium: Oswaldo Frota-Pessoa.
Vianna-Morgante AM, Azevêdo ES, Otto PA, Opitz JM. Vianna-Morgante AM, et al. Among authors: otto pa. Am J Med Genet. 1996 Jun 28;63(4):581-4. doi: 10.1002/(SICI)1096-8628(19960628)63:4<581::AID-AJMG12>3.0.CO;2-E. Am J Med Genet. 1996. PMID: 8826438 No abstract available.
114 results