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Page 1
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J. Kim CA, et al. Among authors: bertola dr. J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328. Epub 2008 Jan 22. J Clin Endocrinol Metab. 2008. PMID: 18211975 Free article.
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.
Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases.
Albano LM, Zatz M, Kim CA, Bertola D, Sugayama SM, Marques-Dias MJ, Kok F, Ferraretto I, Rosemberg S, Cocozza S, Monticelli A. Albano LM, et al. Rev Hosp Clin Fac Med Sao Paulo. 2001 Sep-Oct;56(5):143-8. doi: 10.1590/s0041-87812001000500003. Rev Hosp Clin Fac Med Sao Paulo. 2001. PMID: 11781594
194 results