Page 110 - Clinical variability in Noonan syndrome with emphasison ear and eye

CHAPTER 7
References
1. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics. 2001;29:465-468.
2. Van der Burgt I. Noonan syndrome. Orphanet Journal of Rare Diseases. 2007;2:4.
3. Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, et al. Diagnosing of Noonan syndrome ad related disorders using target next generation sequencing. B M C
Med Genet. 2014;15:14.
4. Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, et al. Genotype-phenotype
correlations in Noonan syndrome. J Pediatr. 2004;144:368-374.
5. Jongmans M, Sistermans EA, Rikken A, Nillesen WM, Tamminga R, Patton M, et al. Genotypic
and phenotypic characterization of Noonan syndrome: new data and review of the literature.
Am J Med Genet A. 2005;134A:165-170.
6. Allanson JE, Bohring A, Dorr HG, Dufke A, Gillessen-Kaesbach G, Horn D, et al. The face of
Noonan syndrome: does phenotype predict genotype. Am J Med Genet A. 2010;152A:1960-
1966.
7. Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, et al. Germline missense
mutations affecting KRAS isoform B are associated with a severe Noonan syndrome
phenotype. American Journal of Human Genetics. 2006;79:129-135.
8. Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, et al. Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. J Hum
Genet. 2008;53:834-841.
9. Keenan SE, Shvartsman SY. Mechanisms and causality in molecular diseases. Hist Philos Life
Sci. 2017;39:35.
10. Rauen KA. The RASopathies. Annual Review of Genomics and Human Genetics. 2013;14:355-
369.
11. Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing
phenotype. American Journal of Medical Genetics. 1985;21(3):507-14.
12. Moncini S, Bonati MT, Morella I, Ferrari L, Brambilla R, Riva P. Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome
family. Eur J Hum Genet. 2015;23:1531-1537.
13. Serre D, Gurd S, Ge B, Sladek R, Sinnett D, Harmsen E, et al. Differential allelic expression
in the human genome: a robust approach to identify genetic and epigenetic cis-acting
mechanisms regulating gene expression. PLoS Genet. 2008;4:e100006.
14. Mendez HM, Opitz JM. Noonan syndrome: a review. American Journal of Medical Genetics.
1985;21:493-506.
15. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye. 1992;6:328-
334.
16. Group: TNSGD, Kerr B, Van der Burgt I, Biswas S, Clayton-Smith J, Dahlgren J, Gelb, B, et al.
Noonan Syndrome Clinical Management Guidelines. University of Manchester: Dyscerne;
2010.
17. Cremers C. Letter: Hearing loss in Noonan syndrome. Journal of Pediatrics. 1976;88:363.
18. Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome.
Archives of Disease in Childhood. 1992;67:178-183.
19. Qiu WW, Yin SS, Stucker FJ. Audiologic manifestations of Noonan syndrome. Otolaryngology
Head and Neck Surgery. 1998;118:319-323.
20. Scheiber C, Hirschfelder A, Grabel S, peters H, Olze H. Bilateral cochlear implantation in
children with Noonan syndrome. Int J Pediatr Otorhinolaryngol. 2009;73:889-894.
21. Chu HS, Chung HS, Ko MH, Kim HJ, Ki CS, Chung WH, et al. Syndromic hearing loss in association with PTPN11-related disorder: the experience of cochlear implantation in a
child with LEOPARD syndrome. Clin Exp Otorhinolaryngol. 2013;6:99-102.
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