Zechi-Ceide R - Search Results

1

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.

2

Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.

Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Guion-Almeida ML, et al. Am J Med Genet. 1999 Nov 5;87(1):72-7. doi: 10.1002/(sici)1096-8628(19991105)87:1<72::aid-ajmg15>3.0.co;2-7. Am J Med Genet. 1999. PMID: 10528252

3

Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.

Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Guion-Almeida ML, et al. Clin Dysmorphol. 2000 Oct;9(4):269-72. doi: 10.1097/00019605-200009040-00007. Clin Dysmorphol. 2000. PMID: 11045583 Review.

4

Guadalajara camptodactyly syndrome type I: report on a new case.

Zechi-Ceide RM, Guion-Almeida ML, Richieri-Costa A. Zechi-Ceide RM, et al. Clin Dysmorphol. 2002 Apr;11(2):129-32. doi: 10.1097/00019605-200204000-00011. Clin Dysmorphol. 2002. PMID: 12002144

5

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

6

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.

Zechi-Ceide RM, Guion-Almeida ML, Zanchetta S, Richieri-Costa A. Zechi-Ceide RM, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3295-301. doi: 10.1002/ajmg.a.32019. Am J Med Genet A. 2007. PMID: 17907157

7

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.

Guion-Almeida ML, Zechi-Ceide RM, Richieri-Costa A. Guion-Almeida ML, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3252-66. doi: 10.1002/ajmg.a.32090. Am J Med Genet A. 2007. PMID: 17985375

8

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

9

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.

Guion-Almeida ML, Richieri-Costa A, Zechi-Ceide RM. Guion-Almeida ML, et al. Clin Dysmorphol. 2008 Jan;17(1):41-46. doi: 10.1097/MCD.0b013e328274244f. Clin Dysmorphol. 2008. PMID: 18049080

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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