Noonan syndrome

P. Uhlen, P. M. Burch, C. 1. Zito, M. Estrada, B. E. Ehrlich, and A. M. Bennett, Gain-of-function/Noonan syndrome SHP-2/Ptpnll mutants enhance calcium oscillations and impair NEAT signahng. Proc. Natl. Acad. Sci. USA 103, 2160-2165 (2006). 

Gelb BD, TartagUa M. Noonan syndrome and related disorders 24. 

Mutations in PTPNll, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29 465-468... 

Marino B, Digilio MC, Toscano A et al (1999) Congenital heart diseases in children with Noonan syndrome an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135 703-706... 

TartagUa M, Gelb BD (2005) Noonan syndrome and related disorders genetics and pathogenesis. Annu Rev Genomics Hmn Genet 6 45-68... 

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human soUd tumors and adult acute myelogenous leukemia. Cancer Res 64 8816-8820... 

Araki T, Mohi MG, Ismat FA et al (2004) Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects ofPtpnll mutation. Nat Med 10 849-857... 

Krenz M, GuUck J, Osinska HE et al (2008) Role of ERKl /2 signaling in congenital valve malformations in Noonan syndrome. Proc Natl Acad Sci U S A 105 18930-18935... 

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet 79 129-135... 

Schubbert S, Zenker M, Rowe SL et al (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38 331—336... 

Germline gain-of-fimction mutations in SOSl cause Noonan syndrome. Nat Genet 39 70-74... 

Tartaglia M, Pennacchio LA, Zhao C et al (2007) Gain-of-fimction SOSl mutations cause a distinctive form of Noonan syndrome. Nat Genet 39 75-79... 

Calvert GD (1973) Trimethylaminuria and inherited Noonan s syndrome. Lancet 1 320-321... 

Established indications for somatropin (growth hormone) include growth hormone deficiency in children, Turner s syndrome, Noonan s syndrome, and renal insufficiency in children. Other well-studied indications include idiopathic short stature, adult growth hormone deficiency, osteoporosis, and catabolic states associated with acute and chronic illness and injury. Body composition, respiratory muscle function, physical strength, and height improved in a 12-month trial of somatropin in 54 children with Prader-Willi syndrome (1). 

Noonan s syndrome (short stature, pulmonary valve stenosis, hypertelorism, and ptosis)... 

Noonan JA (1968) Hypertelorism with turner phenotype, a new syndrome with associated congenital heart disease. Am J Dis Child 116 373-380... 

Short rib polydactyly syndromes type I (Saldino Noonan) and type II (Majewski) Short ribs and limbs, genital and visceral anomalies, biliary dysgenesis, pancreatic dysplasia Renal dysplasia, cystic kidneys AR (263530)... 

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