Jehee FS - 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

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

3

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. Among authors: jehee fs. 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

4

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

5

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Richieri-Costa A, et al. Among authors: jehee fs. Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28. Am J Med Genet A. 2019. PMID: 31353810

6

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.

Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA. Cheroki C, et al. Among authors: jehee fs. Am J Med Genet A. 2006 Jun 15;140(12):1339-42. doi: 10.1002/ajmg.a.31254. Am J Med Genet A. 2006. PMID: 16691591 No abstract available.

7

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. Among authors: jehee fs. 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

8

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. Among authors: jehee fs. 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

9

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.

Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. Jehee FS, et al. J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456720

10

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR. Jehee FS, et al. Eur J Med Genet. 2011 Jul-Aug;54(4):e425-32. doi: 10.1016/j.ejmg.2011.03.007. Epub 2011 Mar 30. Eur J Med Genet. 2011. PMID: 21457803 Free article.

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