Bertola D - Search Results

1

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC. Paolacci S, et al. Among authors: bertola d. Am J Med Genet A. 2017 Jul;173(7):1763-1772. doi: 10.1002/ajmg.a.38246. Epub 2017 Apr 26. Am J Med Genet A. 2017. PMID: 28447407

2

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. Tartaglia M, et al. Among authors: bertola dr. Am J Hum Genet. 2002 Jun;70(6):1555-63. doi: 10.1086/340847. Epub 2002 May 1. Am J Hum Genet. 2002. PMID: 11992261 Free PMC article.

3

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

4

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

5

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM. Bonaldi A, et al. Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910219

6

New insights in mucopolysaccharidosis type VI: neurological perspective.

Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Bertola DR, Kim CA. Borlot F, et al. Brain Dev. 2014 Aug;36(7):585-92. doi: 10.1016/j.braindev.2013.07.016. Epub 2013 Aug 21. Brain Dev. 2014. PMID: 23972383

7

Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.

Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Gomy I, Bertola DR, Kim CA. Borlot F, et al. Am J Med Genet A. 2014 May;164A(5):1162-9. doi: 10.1002/ajmg.a.36424. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478273

8

Further evidence of the importance of RIT1 in Noonan syndrome.

Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Bertola DR, et al. Am J Med Genet A. 2014 Nov;164A(11):2952-7. doi: 10.1002/ajmg.a.36722. Epub 2014 Aug 13. Am J Med Genet A. 2014. PMID: 25124994

9

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Carvalho E, et al. Among authors: bertola d. Am J Med Genet A. 2015 May;167A(5):1039-46. doi: 10.1002/ajmg.a.36789. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663181

10

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793

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