Passos-Bueno MR - Search Results

1

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.

Zechi-Ceide RM, Rodrigues MG, Jehee FS, Kokitsu-Nakata NM, Passos-Bueno MR, Guion-Almeida ML. Zechi-Ceide RM, et al. Am J Med Genet A. 2012 Jul;158A(7):1680-5. doi: 10.1002/ajmg.a.35367. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628249

2

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Clin Genet. 2005 Jun;67(6):503-10. doi: 10.1111/j.1399-0004.2005.00438.x. Clin Genet. 2005. PMID: 15857417

3

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2005 Dec 15;139(3):221-6. doi: 10.1002/ajmg.a.30991. Am J Med Genet A. 2005. PMID: 16283679

4

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Jehee FS, et al. Cleft Palate Craniofac J. 2006 Mar;43(2):148-51. doi: 10.1597/04-206.1. Cleft Palate Craniofac J. 2006. PMID: 16526918

5

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Krepischi-Santos AC, et al. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408

6

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO. Jenkins D, et al. Am J Hum Genet. 2007 Jun;80(6):1162-70. doi: 10.1086/518047. Epub 2007 Apr 18. Am J Hum Genet. 2007. PMID: 17503333 Free PMC article.

7

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

8

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Jehee FS, Bertola DR, Yelavarthi KK, Krepischi-Santos AC, Kim C, Vianna-Morgante AM, Vermeesch JR, Passos-Bueno MR. Jehee FS, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1912-8. doi: 10.1002/ajmg.a.31863. Am J Med Genet A. 2007. PMID: 17632770

9

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

10

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR, Sertié AL, Jehee FS, Fanganiello R, Yeh E. Passos-Bueno MR, et al. Front Oral Biol. 2008;12:107-143. doi: 10.1159/000115035. Front Oral Biol. 2008. PMID: 18391498 Review.

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