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Items: 1 to 20 of 187

1.

Response to growth hormone in short children with Noonan syndrome: correlation to genotype.

Binder G.

Horm Res. 2009 Dec;72 Suppl 2:52-6. doi: 10.1159/000243781. Epub 2009 Dec 22.

PMID:
20029239
2.

Noonan syndrome, the Ras-MAPK signalling pathway and short stature.

Binder G.

Horm Res. 2009 Apr;71 Suppl 2:64-70. doi: 10.1159/000192439. Epub 2009 Apr 29. Review.

PMID:
19407499
3.

[Noonan syndrome: from phenotype to growth hormone therapy].

Malaquias AC, Ferreira LV, Souza SC, Arnhold IJ, Mendonça BB, Jorge AA.

Arq Bras Endocrinol Metabol. 2008 Jul;52(5):800-8. Review. Portuguese.

4.

Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.

Padidela R, Camacho-Hübner C, Attie KM, Savage MO.

Horm Res. 2008;70(3):129-36. doi: 10.1159/000145016. Epub 2008 Jul 29. Review.

5.

Abnormal growth in noonan syndrome: the challenge of optimal therapy.

Savage MO, Padidela R, Kirk JM, Malaquias AC, Jorge AA.

Pediatr Endocrinol Rev. 2009 Jun;6 Suppl 4:523-8. Review.

PMID:
19550387
6.

GH therapy in Noonan syndrome: Review of final height data.

Dahlgren J.

Horm Res. 2009 Dec;72 Suppl 2:46-8. doi: 10.1159/000243779. Epub 2009 Dec 22. Review.

PMID:
20029237
7.

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

Ferreira LV, Souza SA, Montenegro LR, Arnhold IJ, Pasqualini T, Heinrich JJ, Keselman AC, Mendonça BB, Jorge AA.

Arq Bras Endocrinol Metabol. 2007 Apr;51(3):450-6. Portuguese.

8.

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

Ferreira LV, Souza SA, Arnhold IJ, Mendonca BB, Jorge AA.

J Clin Endocrinol Metab. 2005 Sep;90(9):5156-60. Epub 2005 Jun 14.

PMID:
15956085
9.

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Brasil AS, Malaquias AC, Wanderley LT, Kim CA, Krieger JE, Jorge AA, Pereira AC, Bertola DR.

Arq Bras Endocrinol Metabol. 2010 Nov;54(8):717-22.

10.

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

Ferreira LV, Souza SC, Montenegro LR, Malaquias AC, Arnhold IJ, Mendonca BB, Jorge AA.

Clin Endocrinol (Oxf). 2008 Sep;69(3):426-31. doi: 10.1111/j.1365-2265.2008.03234.x. Epub 2008 Mar 10.

PMID:
18331608
11.

Noonan syndrome: growth to growth hormone - the experience of observational studies.

Ranke MB.

Horm Res. 2009 Dec;72 Suppl 2:36-40. doi: 10.1159/000243777. Epub 2009 Dec 22.

PMID:
20029235
12.

Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Bentires-Alj M, Paez JG, David FS, Keilhack H, Halmos B, Naoki K, Maris JM, Richardson A, Bardelli A, Sugarbaker DJ, Richards WG, Du J, Girard L, Minna JD, Loh ML, Fisher DE, Velculescu VE, Vogelstein B, Meyerson M, Sellers WR, Neel BG.

Cancer Res. 2004 Dec 15;64(24):8816-20.

14.

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS.

Nat Genet. 2007 Jan;39(1):70-4. Epub 2006 Dec 3.

PMID:
17143285
15.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC.

Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17.

PMID:
18678287
16.

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.

Binder G, Neuer K, Ranke MB, Wittekindt NE.

J Clin Endocrinol Metab. 2005 Sep;90(9):5377-81. Epub 2005 Jun 28.

PMID:
15985475
17.

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR.

Am J Med Genet A. 2008 Apr 15;146A(8):1042-8. doi: 10.1002/ajmg.a.32215.

PMID:
18348260
18.

Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.

Noordam C, Peer PG, Francois I, De Schepper J, van den Burgt I, Otten BJ.

Eur J Endocrinol. 2008 Sep;159(3):203-8. doi: 10.1530/EJE-08-0413. Epub 2008 Jun 18.

19.

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.

20.

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

Ekvall S, Hagenäs L, Allanson J, Annerén G, Bondeson ML.

Am J Med Genet A. 2011 Jun;155A(6):1217-24. doi: 10.1002/ajmg.a.33987. Epub 2011 May 5.

PMID:
21548061

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