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Items: 20

1.

Noonan syndrome and clinically related disorders.

Tartaglia M, Gelb BD, Zenker M.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Review.

2.

Noonan syndrome.

Roberts AE, Allanson JE, Tartaglia M, Gelb BD.

Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Review.

3.

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA.

Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Review.

PMID:
20876176
4.

Noonan syndrome.

van der Burgt I.

Orphanet J Rare Dis. 2007 Jan 14;2:4. Review.

5.

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.

De Rocca Serra-Nédélec A, Edouard T, Tréguer K, Tajan M, Araki T, Dance M, Mus M, Montagner A, Tauber M, Salles JP, Valet P, Neel BG, Raynal P, Yart A.

Proc Natl Acad Sci U S A. 2012 Mar 13;109(11):4257-62. doi: 10.1073/pnas.1119803109. Epub 2012 Feb 27.

6.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD.

Am J Hum Genet. 2002 Jun;70(6):1555-63. Epub 2002 May 1.

7.

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW.

J Pediatr. 2011 Dec;159(6):1029-35. doi: 10.1016/j.jpeds.2011.05.024. Epub 2011 Jul 23.

PMID:
21784453
8.

Noonan syndrome: clinical aspects and molecular pathogenesis.

Tartaglia M, Zampino G, Gelb BD.

Mol Syndromol. 2010 Feb;1(1):2-26. doi: 10.1159/000276766. Epub 2010 Jan 15.

9.

Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry.

Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE.

Am Heart J. 2012 Sep;164(3):442-8. doi: 10.1016/j.ahj.2012.04.018. Epub 2012 Aug 9.

PMID:
22980313
10.

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD.

Nat Genet. 2001 Dec;29(4):465-8. Erratum in: Nat Genet 2002 Jan;30(1):123. Nat Genet 2001 Dec;29(4):491.

PMID:
11704759
11.

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.

Kraft M, Cirstea IC, Voss AK, Thomas T, Goehring I, Sheikh BN, Gordon L, Scott H, Smyth GK, Ahmadian MR, Trautmann U, Zenker M, Tartaglia M, Ekici A, Reis A, Dörr HG, Rauch A, Thiel CT.

J Clin Invest. 2011 Sep;121(9):3479-91. doi: 10.1172/JCI43428. Epub 2011 Aug 1.

12.
13.

Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

Karbach J, Coerdt W, Wagner W, Bartsch O.

Am J Med Genet A. 2012 Sep;158A(9):2283-9. doi: 10.1002/ajmg.a.35493. Epub 2012 Jul 27. Review.

PMID:
22848035
14.

Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

Wu X, Yin J, Simpson J, Kim KH, Gu S, Hong JH, Bayliss P, Backx PH, Neel BG, Araki T.

Mol Cell Biol. 2012 Oct;32(19):3872-90. doi: 10.1128/MCB.00751-12. Epub 2012 Jul 23.

15.

Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation.

Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, Kim GH, Hwang JS, Yang SW, Lee J, Yoo HW.

Horm Res Paediatr. 2012;77(6):388-93.

PMID:
22777296
16.

Bleeding disorders in Noonan syndrome.

Briggs BJ, Dickerman JD.

Pediatr Blood Cancer. 2012 Feb;58(2):167-72. doi: 10.1002/pbc.23358. Epub 2011 Oct 19. Review.

PMID:
22012616
17.

NRAS Mutations in Noonan Syndrome.

Denayer E, Peeters H, Sevenants L, Derbent M, Fryns JP, Legius E.

Mol Syndromol. 2012 Jun;3(1):34-38. Epub 2012 May 3.

18.

The benefits of growth hormone therapy in patients with Turner syndrome, Noonan syndrome and children born small for gestational age.

Kappelgaard AM, Laursen T.

Growth Horm IGF Res. 2011 Dec;21(6):305-13. doi: 10.1016/j.ghir.2011.09.004. Epub 2011 Oct 20. Review.

PMID:
22019012
19.

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.

Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16.

20.

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M.

Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28.

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