Page 58 - Clinical variability in Noonan syndrome with emphasison ear and eye
P. 58

                CHAPTER 3
References
1. Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatrics 1963;63:468-70.
2. Allanson JE. Noonan syndrome. J Med Genet 1987;24:9-13.
3. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis 2007;2:4.
4. Nora JJ, Nora AH, Sinha AK, et al. The Ullrich-Noonan syndrome (Turner phenotype). Am J
Dis Child 1974;127:48-55.
5. Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985;21:493-506.
6. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein
tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29:465-8.
7. 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;70:1555-63.
8. Carta C, Pantaleoni F, Bocchinfuso G, et al. Germline missense mutations affecting KRAS
isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet
2006;79:129-35.
9. Tartaglia M, Pennacchio LA, Zhao C, et al. Gain-of-function SOS1 mutations cause a
distinctive form of Noonan syndrome. Nat Genet 2007;39:75-9.
10. Razzaque MA, Nishizawa T, Komoike Y, et al. Germline gain-of-function mutations in RAF1
cause Noonan syndrome. Nat Genet 2007;39:1013-7.
11. Niihori T, Aoki Y, Narumi Y, et al. Germline KRAS and BRAF mutations in cardio-facio-
cutaneous syndrome. Nat Genet 2006;38:294-6.
12. Cordeddu V, Di Schiavi E, Pennacchio LA, et al. Mutation of SHOC2 promotes aberrant
protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat
Genet 2009;41:1022-6.
13. Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes
Noonan syndrome. Nat Genet 2010;42:27-9.
14. Nava C, Hanna N, Michot C, et al. Cardio-facio-cutaneous and Noonan syndromes due to
mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and
overlap with Costello syndrome. J Med Genet 2007;44:763-71.
15. Cordeddu V, Yin JC, Gunnarsson C, et al. Activating mutations affecting the Dbl homology
domain of SOS2 cause Noonan syndrome. Hum Mutat 2015;36:1080-7.
16. Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome,
a RAS/MAPK pathway syndrome. Am J Hum Genet 2013;93:173-80.
17. Noonan JA. Noonan syndrome. An update and review for the primary pediatrician. Clin
Pediatr 1994;33:548-55.
18. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye (Lond)
1992;6:328-34.
19. Marin LR, da Silva FT, de Sá LC, et al. Ocular manifestations of Noonan syndrome. Ophthalmic
Genet 2012;33:1-5.
20. 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;53:187-91.
21. Farkas LG, Anthropometry of the head and face. 2nd ed. New York: Raven Press; 1994.
22. Small RG, Sabates NR, Burrows D. The measurement and definition of ptosis. Ophthal Plast
Reconstr Surg 1989;5:171-5.
23. Stengel-Rutkowski S, Schimanek P, Wernheimer A. Anthropometric definitions of
dysmorphic facial signs. Hum Genet 1984;67:272-95.
24. Croonen EA, Nillesen W, Schrander C, et al. Noonan syndrome: comparing mutation-
positive with mutation-negative Dutch patients. Mol Syndromol 2013;4:227-34.
25. Reynolds DJ, Rubin SE, Fox J, Kodsi SR. Ocular manifestations of Noonan syndrome in the
pediatric patient. J AAPOS 2004;8:282-3.
26. Alfieri P, Cesarini L, Zampino G, et al. Visual function in Noonan and LEOPARD syndrome.
Neuropediatrics 2008;39:335-40.
56














































   56   57   58   59   60