Bertola DR - Search Results

1

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

Imagawa E, Seyama R, Aoi H, Uchiyama Y, Marcarini BG, Furquim I, Honjo RS, Bertola DR, Kim CA, Matsumoto N. Imagawa E, et al. Among authors: bertola dr. Clin Genet. 2023 Apr;103(4):383-391. doi: 10.1111/cge.14296. Epub 2023 Jan 25. Clin Genet. 2023. PMID: 36645289 Review.

2

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.

3

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

4

AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.

Bertola DR, Kim CA, Sugayama SM, Albano LM, Utagawa CY, Gonzalez CH. Bertola DR, et al. Pediatr Dermatol. 2000 May-Jun;17(3):218-21. doi: 10.1046/j.1525-1470.2000.01756.x. Pediatr Dermatol. 2000. PMID: 10886756

5

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

6

Hematological findings in Noonan syndrome.

Bertola DR, Carneiro JD, D'Amico EA, Kim CA, Albano LM, Sugayama SM, Gonzalez CH. Bertola DR, et al. 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

7

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. Among authors: bertola dr. 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

8

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, van Bokhoven H. Bertola DR, et al. Clin Genet. 2004 Jul;66(1):79-80. doi: 10.1111/j.0009-9163.2004.00278.x. Clin Genet. 2004. PMID: 15200513 No abstract available.

9

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

10

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

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