Bertola D - Search Results

1

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system.

Denadai R, Raposo-Amaral CE, Bertola D, Kim C, Alonso N, Hart T, Han S, Stelini RF, Buzzo CL, Raposo-Amaral CA, Hart PS. Denadai R, et al. Among authors: bertola d. Am J Med Genet A. 2012 Apr;158A(4):732-42. doi: 10.1002/ajmg.a.35228. Epub 2012 Mar 1. Am J Med Genet A. 2012. PMID: 22383261 Free PMC article.

2

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

3

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.

4

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?

Bertola DR, Kim CA, Pereira AC, Mota GF, Krieger JE, Vieira IC, Valente M, Loreto MR, Magalhães RP, Gonzalez CH. Bertola DR, et al. Am J Med Genet. 2001 Jan 22;98(3):230-4. doi: 10.1002/1096-8628(20010122)98:3<230::aid-ajmg1080>3.0.co;2-k. Am J Med Genet. 2001. PMID: 11169560

5

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Albano LM, Sakae PP, Mataloun MM, Leone CR, Bertola DR, Kim CA. Albano LM, et al. Rev Hosp Clin Fac Med Sao Paulo. 2004 Apr;59(2):89-92. doi: 10.1590/s0041-87812004000200008. Epub 2004 Apr 26. Rev Hosp Clin Fac Med Sao Paulo. 2004. PMID: 15122424

6

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

Bertola DR, Pereira AC, de Oliveira PS, Kim CA, Krieger JE. Bertola DR, et al. Am J Med Genet A. 2004 Nov 1;130A(4):378-83. doi: 10.1002/ajmg.a.30270. Am J Med Genet A. 2004. PMID: 15384080

7

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, Krieger JE. Bertola DR, et al. Am J Med Genet A. 2005 Jul 30;136(3):242-5. doi: 10.1002/ajmg.a.30813. Am J Med Genet A. 2005. PMID: 15948193

8

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. D'Angelo CS, et al. Among authors: bertola dr. Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. doi: 10.1016/j.ejmg.2006.02.001. Epub 2006 Mar 10. Eur J Med Genet. 2006. PMID: 16564757

9

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP. Varela MC, et al. Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. doi: 10.1016/j.ejmg.2005.12.002. Epub 2006 Jan 4. Eur J Med Genet. 2006. PMID: 16829351

10

Cockayne syndrome type A: novel mutations in eight typical patients.

Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Bertola DR, et al. J Hum Genet. 2006;51(8):701-705. doi: 10.1007/s10038-006-0011-7. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865293

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