Genotype - Phenotype correlations in Noonan syndrome

Acta Endocrinologica

Volumn 10, Issue 3, 2014, Pages 463-476

  Rusu, Cristina ^a   Idriceanu, J ^a   Bodescu, I ^a   Anton, M ^a   Vulpoi, C ^a  

^a GRIGORE T POPA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

Author keywords

Genotype phenotype correlation; GH therapy; Noonan syndrome

Indexed keywords

EID: 84904555265     PISSN: 18410987     EISSN: None     Source Type: Journal    
DOI: 10.4183/aeb.2014.463     Document Type: Article

References (28)

1. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet 2013; 381(9863):333-342.
2. Allanson JE. Noonan Syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes, 3rd ed. Hoboken, New Jersey: John Wiley& Sons, Inc., 2010:569-586.
3. Allanson JE. The Clinical Phenotype of Noonan Syndrome. In: Zenker M, eds. Monographs in Human Genetics: Noonan syndrome and related disorders: A matter of deregulated RAS signaling. Vol 17. Basel: Karger Press, 2009:9-19.
4. Sarkozy A, Digilio MC, Marino B, Dallapiccola B. Genotype-Phenotype Correlations in Noonan Syndrome. In: Zenker M, eds. Monographs in Human Genetics: Noonan syndrome and related disorders: A matter of deregulated RAS signaling. Vol 17. Basel: Karger Press, 2009:40-54.
5. Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010; 1(1):2-26.
6. van der Burgt I. Noonan syndrome. Orphanet J Rare Dis 2007; 2:4.
7. Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 2009; 71(4):185-193.
8. Padidela R, Camacho-Hubner C, Attie KM, Savage MO. Abnormal growth in Noonan syndrome: genetic and endocrine features and optimal treatment. Horm Res 2008; 70(3):129-136.
9. Binder G. Endocrine Regulation of Growth and Short Stature in Noonan Syndrome. In: Zenker M, eds. Monographs in Human Genetics: Noonan syndrome and related disorders: A matter of deregulated RAS signaling. Vol 17. Basel: Karger Press, 2009:104-108.
10. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts A, Robinson W, Takemoto C, Noonan J. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126(4):746-759.
11. Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome. Am J Med Genet A 2003; 123A(1):68-71.
12. Binder G. Noonan syndrome, the Ras-MAPK signalling pathway and short stature. Horm Res 2009; 71 Suppl 2:64-70.
13. Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR. Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 1988; 148(3):220-227.
14. Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child 2007; 92(2):128-132.
15. Witt DR, Keena BA, Hall JG, Allanson JE. Growth curves for height in Noonan syndrome. Clin Genet 1986; 30(3):150-153.
16. Hall J, Allanson JE, Gripp K, Slavotinek A. Measurements for Specific Syndromes. In: Hall J, Allanson JE, Gripp K, Slavotinek A, eds. Handbook of physical measurements. New York: Oxford University Press, 2007:450-451.
17. Tartaglia M, Gelb BD. Molecular Genetics of Noonan Syndrome. In: Zenker M, eds. Monographs in Human Genetics: Noonan syndrome and related disorders: A matter of deregulated RAS signaling. Vol 17. Basel: Karger Press, 2009:20-39.
18. Smpokou P, Tworog-Dube E, Kucherlapati RS, Roberts AE. Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome. Am J Med Genet A 2012; 158A(12):3106-3111.
19. Noordam C, van der Burgt I, Sweep CG, Delemarre-van de Waal HA, Sengers RC, Otten BJ. Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. Clin Endocrinol (Oxf) 2001; 54(1):53-59.
20. Romano AA, Dana K, Bakker B, Davis DA, Hunold JJ, Jacobs J, Lippe B. Growth response, near-adult height, and patterns of growth and puberty in patients with Noonan syndrome treated with growth hormone. J Clin Endocrinol Metab 2009; 94(7):2338-2344.
21. Allanson JE, Roberts AE. Noonan Syndrome. GeneReviews® [Internet]. (Accessed December 12, 2013, at site < http://www.ncbi.nlm.nih.gov/ books/NBK1124/>).
22. Noordam C, Peer PG, Francois I, De Schepper J, van den Burgt I, Otten BJ. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. Eur J Endocrinol 2008; 159(3):203-208.
23. Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA. PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab 2005; 90(9):5156-5160.
24. Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr 2005; 94(9):1232-1237.
25. Zbranca E. Endocrinologie-Ghid de diagnostic si tratament in bolile endocrine. Iasi: Polirom, 2008:86.
26. Cooke DW, Divall SA, Radovick S. Normal and Aberrant Growth. In: Melmed S, Polonsky K, Larsen R, Kronenberg H, eds. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa: Saunders Elsevier, 2011:1009.
27. Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav 2009; 8(3):275-282.
28. Marcus KA, Sweep CG, van der Burgt I, Noordam C. Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab 2008; 21(11):1079-1084.