Richieri-Costa A - Search Results

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. 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

2

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Mazzeu JF, et al. Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592. Am J Med Genet A. 2007. PMID: 17256787

3

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Jehee FS, Burin BA, Rocha KM, Zechi-Ceide R, Bueno DF, Brito L, Souza J, Leal GF, Richieri-Costa A, Alonso N, Otto PA, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2009 Jun;149A(6):1319-22. doi: 10.1002/ajmg.a.32849. Am J Med Genet A. 2009. PMID: 19449419 No abstract available.

4

Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients.

van Bever Y, van den Ende JJ, Richieri-Costa A. van Bever Y, et al. Am J Med Genet. 1992 Nov 15;44(5):683-90. doi: 10.1002/ajmg.1320440530. Am J Med Genet. 1992. PMID: 1481833

5

Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.

van den Ende JJ, van Bever Y, Rodini ES, Richieri-Costa A. van den Ende JJ, et al. Am J Med Genet. 1992 Feb 15;42(4):467-9. doi: 10.1002/ajmg.1320420411. Am J Med Genet. 1992. PMID: 1609830

6

Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia.

Richieri-Costa A, Guion-Almeida ML, van den Ende J. Richieri-Costa A, et al. Am J Med Genet. 1991 Dec 1;41(3):330-2. doi: 10.1002/ajmg.1320410314. Am J Med Genet. 1991. PMID: 1789289

7

Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?

Richieri-Costa A, Colletto GM, Otto PA. Richieri-Costa A, et al. Am J Med Genet. 1985 Aug;21(4):637-42. doi: 10.1002/ajmg.1320210404. Am J Med Genet. 1985. PMID: 4025394

8

Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

Richieri-Costa A, Garcia da Silva SM, Frota-Pessoa O. Richieri-Costa A, et al. J Med Genet. 1984 Apr;21(2):103-7. doi: 10.1136/jmg.21.2.103. J Med Genet. 1984. PMID: 6716408 Free PMC article.

9

Autosomal dominant late adult spinal muscular atrophy, type Finkel.

Richieri-Costa A, Rogatko A, Levisky R, Finkel N, Frota-Pessoa O. Richieri-Costa A, et al. Am J Med Genet. 1981;9(2):119-28. doi: 10.1002/ajmg.1320090206. Am J Med Genet. 1981. PMID: 7258225

10

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.

Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LF, Richieri-Costa A, Passos-Bueno MR. Zechi-Ceide RM, et al. Eur J Med Genet. 2008 May-Jun;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9. Eur J Med Genet. 2008. PMID: 18276201

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