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Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Sobreira N, et al. Among authors: bertola d. Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7. Eur J Hum Genet. 2017. PMID: 29255178 Free PMC article.
Clinical and radiological aspects in Melnick-Needles syndrome.
Albano LM, Kim CA, Lee VK, Sugayama SM, Barba MF, Utagawa CY, Bertola D, Gonzalez CH. Albano LM, et al. Among authors: bertola d. Rev Hosp Clin Fac Med Sao Paulo. 1999 Mar-Apr;54(2):69-72. doi: 10.1590/s0041-87811999000200007. Rev Hosp Clin Fac Med Sao Paulo. 1999. PMID: 10513069
Further delineation of Char syndrome.
Bertola DR, Kim CA, Sugayama SM, Utagawa CY, Albano LM, Gonzalez CH. Bertola DR, et al. Pediatr Int. 2000 Feb;42(1):85-8. doi: 10.1046/j.1442-200x.2000.01158.x. Pediatr Int. 2000. PMID: 10703243 No abstract available.
Noonan syndrome: a clinical and genetic study of 31 patients.
Bertola DR, Sugayama SM, Albano LM, Kim CA, Gonzalez CH. Bertola DR, et al. Rev Hosp Clin Fac Med Sao Paulo. 1999 Sep-Oct;54(5):147-50. doi: 10.1590/s0041-87811999000500003. Rev Hosp Clin Fac Med Sao Paulo. 1999. PMID: 10788835
Cardiac findings in 31 patients with Noonan's syndrome.
Bertola DR, Kim CA, Sugayama SM, Albano LM, Wagenführ J, Moysés RL, Gonzalez CH. Bertola DR, et al. Arq Bras Cardiol. 2000 Nov;75(5):409-12. doi: 10.1590/s0066-782x2000001100005. Arq Bras Cardiol. 2000. PMID: 11080752 Free article.
Hematological findings in Noonan syndrome.
Bertola DR, Carneiro JD, D'Amico EA, Kim CA, Albano LM, Sugayama SM, Gonzalez CH. Bertola DR, et al. Among authors: d amico ea. Rev Hosp Clin Fac Med Sao Paulo. 2003 Jan-Feb;58(1):5-8. doi: 10.1590/s0041-87812003000100002. Epub 2003 Apr 30. Rev Hosp Clin Fac Med Sao Paulo. 2003. PMID: 12754583
197 results