Zechi-Ceide R - Search Results

1

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Vegas N, Demir Z, Gordon CT, Breton S, Romanelli Tavares VL, Moisset H, Zechi-Ceide R, Kokitsu-Nakata NM, Kido Y, Marlin S, Gherbi Halem S, Meerschaut I, Callewaert B, Chung B, Revencu N, Lehalle D, Petit F, Propst EJ, Papsin BC, Phillips JH, Jakobsen L, Le Tanno P, Thévenon J, McGaughran J, Gerkes EH, Leoni C, Kroisel P, Tan TY, Henderson A, Terhal P, Basel-Salmon L, Alkindy A, White SM, Passos-Bueno MR, Pingault V, De Pontual L, Amiel J. Vegas N, et al. Among authors: zechi ceide r. Hum Mutat. 2022 May;43(5):582-594. doi: 10.1002/humu.24349. Epub 2022 Mar 7. Hum Mutat. 2022. PMID: 35170830

2

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

3

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

4

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

Zechi-Ceide RM, Guion-Almeida ML, de Oliveira Rodini ES, Jesus Oliveira NA, Passos-Bueno MR. Zechi-Ceide RM, et al. Clin Dysmorphol. 2007 Jul;16(3):163-166. doi: 10.1097/MCD.0b013e3280739753. Clin Dysmorphol. 2007. PMID: 17551329

5

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.

Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR. Masotti C, et al. Eur J Hum Genet. 2008 Feb;16(2):145-52. doi: 10.1038/sj.ejhg.5201955. Epub 2007 Nov 14. Eur J Hum Genet. 2008. PMID: 18000524

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

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.

Zechi-Ceide RM, Jesus Oliveira NA, Guion-Almeida ML, Antunes LFBB, Richieri-Costa A, Passos-Bueno MRS. Zechi-Ceide RM, et al. Clin Dysmorphol. 2008 Jul;17(3):225-226. doi: 10.1097/MCD.0b013e3282fe1b8e. Clin Dysmorphol. 2008. PMID: 18541977 No abstract available.

8

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.

9

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. Guion-Almeida ML, et al. Am J Med Genet A. 2009 Dec;149A(12):2762-4. doi: 10.1002/ajmg.a.32816. Am J Med Genet A. 2009. PMID: 19921636

10

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, Rocha K, Passos-Bueno MR. Zechi-Ceide RM, et al. Am J Med Genet A. 2010 Jul;152A(7):1838-40. doi: 10.1002/ajmg.a.33477. Am J Med Genet A. 2010. PMID: 20583178

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