Advanced search
Publication Cover
Ophthalmic Genetics Volume 33, 2012 - Issue 1
Submit an article Journal homepage
381
Views
13
CrossRef citations to date
0
Altmetric
Research Reports

Ocular manifestations of Noonan syndrome

Lenina da Rocha Pitta MarinFaculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilCorrespondence[email protected]
,
Felipe Theodoro Bezerra Gaspar Carvalho da SilvaDepartment of Ophthalmology, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
,
Luís Carlos Ferreira de SáUnidade de Genética do Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
,
Amanda Salem BrasilUnidade de Genética do Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
,
Alexandre PereiraInCor, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
,
Isabel Mosca FurquimUnidade de Genética do Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
,
Chong Ae KimUnidade de Genética do Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
&
Débora Romeo BertolaUnidade de Genética do Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
 show all
Pages 1-5 | Received 18 Jan 2011, Accepted 30 May 2011, Published online: 04 Aug 2011

REFERENCES

  • Nora JJ, Nora AH, Sinha AK, Spangler RD, Lubs HÁ,. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child, 1974;127:48–55.
  • Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010;126(4):746–759.
  • Allanson JE. Noonan syndrome. J Med Genet 1987;24:9–13.
  • Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465–468.
  • Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutation cause Noonan syndrome. Nat Genet 2006;38:331–336.
  • Bertola DR, Pereira AC, Albano LMJ, Oliveira PSL, Kim CA, Krieger JE. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 2006;10:186–191.
  • Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368–374.
  • Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye 1992;6:328–334.
  • Alfieri P, Cesarini L, Zampino G, et al. Visual function in Noonan and LEOPARD syndrome. Neuropediatrics 2008;39:335–340.
  • van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994;53(2):187–191.
  • Feingold M, Bossert WH. Normal values for selected physical parameters, an aid to syndrome delineation. Birth Defects 1974;10(13):1–16.
  • Ram SP, Krishna TN. Cardiopathy and ocular abnormalities in Noonan syndrome. Singapore Med J 1994 Aug;35(4):397–399.
  • Schwartz DE. Noonan’s syndrome associated with ocular abnormalities. Am J Ophthalmol 1972 Jun;73(6):955–960.
  • Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation and phenotypic heterogeneity. Am J Hum Genet 2002 Jun;70(6):1555–1563.
  • Gelb BD, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet 2006 Oct 15;15(Spec No. 2):R220–226.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.