Richieri-Costa A - Search Results

1

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

Passos-Bueno MR, Sertié AL, Richieri-Costa A, Alonso LG, Zatz M, Alonso N, Brunoni D, Ribeiro SF. Passos-Bueno MR, et al. Am J Med Genet. 1998 Jul 7;78(3):237-41. Am J Med Genet. 1998. PMID: 9677057

2

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Passos-Bueno MR, Richieri-Costa A, Sertié AL, Kneppers A. Passos-Bueno MR, et al. J Med Genet. 1998 Aug;35(8):677-9. doi: 10.1136/jmg.35.8.677. J Med Genet. 1998. PMID: 9719378 Free PMC article.

3

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. Splendore A, et al. Hum Mutat. 2000 Oct;16(4):315-22. doi: 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H. Hum Mutat. 2000. PMID: 11013442 Review.

4

Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?

Passos-Bueno MR, Sertié AL, Zatz M, Richieri-Costa A. Passos-Bueno MR, et al. Am J Med Genet. 1997 Aug 8;71(2):243-5. Am J Med Genet. 1997. PMID: 9217234 No abstract available.

5

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

6

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

7

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.

8

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.

Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Guion-Almeida ML, et al. Am J Med Genet A. 2012 Jul;158A(7):1676-9. doi: 10.1002/ajmg.a.35351. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628242

9

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.

Passos-Bueno MR, Gaspar DA, Kamiya T, Tescarollo G, Rabanéa D, Richieri-Costa A, Alonso N, Araújo B. Passos-Bueno MR, et al. Cleft Palate Craniofac J. 2004 Jul;41(4):387-91. doi: 10.1597/03-054.1. Cleft Palate Craniofac J. 2004. PMID: 15222785

10

Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.

Richieri-Costa A, Brunoni D, Laredo Filho J, Kasinski S. Richieri-Costa A, et al. Am J Med Genet. 1987 Dec;28(4):971-80. doi: 10.1002/ajmg.1320280424. Am J Med Genet. 1987. PMID: 3688036

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