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Page 1
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Wade EM, et al. Among authors: kim ca. Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12. Am J Med Genet A. 2017. PMID: 28498505
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: kim ca. 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. Among authors: kim ca. 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. Among authors: kim ca. 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
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Robertson SP, et al. Among authors: kim ca. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612583
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: kim ca. 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
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Krakow D, et al. Among authors: kim ca. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29. Nat Genet. 2004. PMID: 14991055
359 results