Page 84 - Clinical variability in Noonan syndrome with emphasison ear and eye
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                CHAPTER 5
References
1. J. Noonan, D. Ehmke, Associated noncardiac malformations in children with congenital heart disease, J. Pediatr. 63 (1963) 468-470.
2. A.A. Romano, J.E. Allanson, J. Dahlgren, B.D. Gelb, B. Hall, M.E. Pierpont, et al., Noonan syndrome: clinical features, diagnosis, and management guidelines, Pediatrics 126 (2010) 746-759.
3. I. van der Burgt, E. Berends, E. Lommen, S. van Beersum, B. Hamel, E. Mariman, Clinical and molecular studies in a large Dutch family with Noonan syndrome, Am. J. Med. Genet. 53 (1994) 187-191.
4. C. Cremers, Letter: Hearing loss in Noonan syndrome, J. Pediatr. 88 (1976) 363.
5. C.W.R.J. Cremers, C.J.A.M. van der Burgt, Hearing loss in Noonan syndrome, Int. J. Pediatr.
Otorhinolaryngol. 23 (1992) 81-84.
6. M. Sharland, M. Burch, W.M. McKenna, M.A Paton, A clinical study of Noonan syndrome,
Arch. Dis. Child. 67 (1992) 178-183.
7. W.W. Qiu, S.S. Yin, F.J. Stucker, Audiologic manifestations of Noonan syndrome, Otolaryngol.
Head Neck Surg. 118 (1998) 319-323.
8. M. Tartaglia, E.L. Mehler, R. Goldberg, G. Zampino, H.G. Brunner, H. Kremer, et al., Mutations
in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome,
Nat. Genet. 29 (2001) 465-468.
9. C. Carta, F. Pantaleoni, G. Bocchinfuso, L. Stella, L. Vasta, A. Sarkozy, et al., Germline missense
mutations affecting KRAS isoform B are associated with a severe Noonan syndrome
phenotype, Am. J. Hum. Genet. 79 (2006) 129-135.
10. M. Tartaglia, L.A. Pennacchio, C Zhao, K.K. Yadav, V. Fodale, A. Sarkozy, et al., Gain-of-function
SOS1 mutations cause a distinctive form of Noonan syndrome, Nat. Genet. 39 (2007) 75-79.
11. T. Niihori, Y. Aoki, Y. Narumi, G. Neri, H. Cavé, A. Verloes, et al., Germline KRAS and BRAF
mutations in cardio-facio-cutaneous syndrome, Nat. Genet. 38 (2006) 294-296.
12. M.A. Razzaque, T. Nishizawa, Y. Komoike, H. Yagi, M. Furutani, R. Amo, et al., Germline gain- of-function mutations in RAF1 cause Noonan syndrome, Nat. Genet. 39 (2007) 1013-1017.
13. V. Cordeddu, E. Di Schiavi, L.A, Pennacchio, A. Ma’ayan, A. Sarkozy, V. Fodale, et al., Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair, Nat. Genet. 41 (2009) 1022-1026.
14. N.B. Lee, L. Kelly, M. Sharland, Ocular manifestations of Noonan syndrome, Eye, 6 (1992) 328-334.
15. C.A. Foster, P.J. Dyhrkopp, Noonan’s syndrome with sensorineural hearing loss and vestibular abnormalities, Otolaryngol. Head Neck Surg. 119 (1998) 508-511.
16. M. Miura, I. Sando, Y. Orita, B.E. Hirsch, Temporal bone histopathological study of Noonan syndrome, Int. J. Pediatr. Otorhinolaryngol. 60 (2001) 73-82.
17. B.H. Lee, J.M. Kim, H.Y. Jin, G. H. Kim, J.H. Choi, H.W. Yoo, Spectrum of mutations in Noonan Syndrome and their correlation with phenotypes, J. Pediatr. 159 (2011) 1029-1035.
18. C. Scheiber, A. Hirschfelder, S. Grabel, H. Peters, H. Olze, Bilateral cochlear implantation in children with Noonan syndrome, Int. J. Pediatr. Otorhinolaryngol. 73 (2009) 889-894.
19. I. vd Burgt, Noonan syndrome, Orphanet J. Rare Dis. 14 (2007) 2-4.
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