Browsing by Author Bertola, D. R.

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
1-May-2000AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasiasBertola, D. R.; Kim, C. A.; Sugayama, SMM; Albano, LMJ; Utagawa, C. Y.; Gonzalez, C. H.; Universidade Federal de São Paulo (UNIFESP)
22-Jan-2001Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?Bertola, D. R.; Kim, C. A.; Pereira, A. C.; Mota, GFA; Krieger, J. E.; Vieira, I. C.; Valente, M.; Loreto, M. R.; Magalhaes, R. P.; Gonzalez, C. H.; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP)
1-Feb-2000Further delineation of Char syndromeBertola, D. R.; Kim, CAE; Sugayama, SMM; Utagawa, C. Y.; Albano, LMJ; Gonzalez, C. H.; Universidade Federal de São Paulo (UNIFESP)
1-Jul-2008High 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 hybridisationJehee, F. S.; Krepischi-Santos, A. C. V.; Rocha, K. M.; Cavalcanti, D. P.; Kim, C. A.; Bertola, D. R.; Alonso, L. G. [UNIFESP]; D'Angelo, C. S.; Mazzeu, J. F.; Froyen, G.; Lugtenberg, D.; Vianna-Morgante, A. M.; Rosenberg, C.; Passos-Bueno, M. R.; Universidade de São Paulo (USP); Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP); Katholieke Univ Leuven; VIB; Radboud Univ Nijmegen
1-Jun-2012Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?Bertola, D. R.; Pereira, A. C.; Brasil, A. S.; Suzuki, L.; Leite, C.; Falzoni, R.; Tannuri, U.; Poplawski, A. B.; Janowski, K. M.; Kim, C. A.; Messiaen, L. M.; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP); Univ Alabama Birmingham
2018Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrumBertola, D. R.; Hsia, G.; Alvizi, L.; Gardham, A.; Wakeling, E. L.; Yamamoto, G. L.; Honjo, R. S.; Oliveira, L. A. N.; Di Francesco, R. C.; Perez, B. A. [UNIFESP]; Kim, C. A.; Passos-Bueno, M. R.
1-Jan-2006Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterationsKrepischi-Santos, A. C. V.; Vianna-Morgante, A. M.; Jehee, F. S.; Passos-Bueno, M. R.; Knijnenburg, J.; Szuhai, K.; Sloos, W.; Mazzeu, J. F.; Kok, F.; Cheroki, C.; Otto, P. A.; Mingroni-Netto, R. C.; Varela, M.; Koiffmann, C.; Kim, C. A.; Bertola, D. R.; Pearson, P. L.; Rosenberg, C.; Universidade de São Paulo (USP); Leiden Univ; Universidade Federal de São Paulo (UNIFESP); Robinow Syndrome Fdn