Publications

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Filters: Author is P. Burégio-Frota  [Clear All Filters]
2010
P. Burégio-Frota, Valença, L., Leal, G. F., Duarte, A. R., Bispo-Brito, A. V. S., Soares-Ventura, E. M., Marques-Salles, T. J., Nogueira, M. T. M. C., Muniz, M. T. C., Silva, M. L. M., Hunstig, F., Liehr, T., and Santos, N., Identification of a de novo inv dup(X)(pter→ q22) by multicolor banding in a girl with Turner syndrome, vol. 9. pp. 780-784, 2010.
Armstrong L, McGowan-Jordan J, Brierley K and Allanson JE (2003). De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am. J. Med. Genet. A 116A: 71-76.http://dx.doi.org/10.1002/ajmg.a.10727PMid:12476455 Bondy CA (2005). New issues in the diagnosis and management of Turner syndrome. Rev. Endocr. Metab. Disord. 6: 269-280.http://dx.doi.org/10.1007/s11154-005-6185-zPMid:16311945 Cheng SF, Rauen KA, Pinkel D, Albertson DG, et al. (2005). Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am. J. Med. Genet. A 135: 308-313.http://dx.doi.org/10.1002/ajmg.a.30613PMid:15887264 Gorlin RJ, Cohen MM Jr and Hennekam RCM (2001). Syndromes of the Head and Neck. 4th edn. Oxford University Press, New York.PMCid:1226118 Hanson L, Bryman I, Barrenas ML, Janson PO, et al. (2001). Genetic analysis of mosaicism in 53 women with Turner syndrome. Hereditas 134: 153-159.http://dx.doi.org/10.1111/j.1601-5223.2001.00153.xPMid:11732852 Hu J, Sathanoori M, Kochmar SJ and Surti U (2006). Application of multicolor banding for identification of complex chromosome 18 rearrangements. J. Mol. Diagn. 8: 521-525.http://dx.doi.org/10.2353/jmoldx.2006.060001PMid:16931594 PMCid:1867622 Kotzot D, Martinez MJ, Bagci G, Basaran S, et al. (2000). Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37: 281-286.http://dx.doi.org/10.1136/jmg.37.4.281PMid:10745046 PMCid:1734569 Liehr T, Heller A, Starke H, Rubtsov N, et al. (2002). Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int. J. Mol. Med. 9: 335-339.PMid:11891523 Petkovic I, Barisic I and Bago R (2003). Cytogenetic evaluation, fluorescence in situ hybridization, and molecular study of psu idic(X)(pter→q22.3::q22.3→pter) chromosome aberration in a girl with moderate growth retardation. Croat. Med. J. 44: 494-499.PMid:12950157 Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, et al. (2005). Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am. J. Med. Genet. A 138: 11-17.http://dx.doi.org/10.1002/ajmg.a.30910PMid:16097007 Taylor KM, Francke U, Brown MG, George DL, et al. (1977). Inverted tandem ("mirror") duplications in human chromosomes: -nv dup 8p, 4q, 22q. Am. J. Med. Genet. 1: 3-19.http://dx.doi.org/10.1002/ajmg.1320010103PMid:610424 Van Dyke DL, Miller MJ and Weiss L (1983). The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm. Am. J. Med. Genet. 15: 441-450.http://dx.doi.org/10.1002/ajmg.1320150309PMid:6881211 Weise A, Mrasek K, Fickelscher I, Claussen U, et al. (2008). Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J. Histochem. Cytochem. 56: 487-493.http://dx.doi.org/10.1369/jhc.2008.950550PMid:18256020 PMCid:2324187