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301 related items for PubMed ID: 20029239

  • 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. PubMed ID: 20029239
    [Abstract] [Full Text] [Related]

  • 2. Noonan syndrome, the Ras-MAPK signalling pathway and short stature.
    Binder G.
    Horm Res; 2009 Apr; 71 Suppl 2():64-70. PubMed ID: 19407499
    [Abstract] [Full Text] [Related]

  • 3. Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.
    Padidela R, Camacho-Hübner C, Attie KM, Savage MO.
    Horm Res; 2008 Apr; 70(3):129-36. PubMed ID: 18663312
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 19550387
    [Abstract] [Full Text] [Related]

  • 5. GH therapy in Noonan syndrome: Review of final height data.
    Dahlgren J.
    Horm Res; 2009 Dec; 72 Suppl 2():46-8. PubMed ID: 20029237
    [Abstract] [Full Text] [Related]

  • 6. 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. PubMed ID: 15956085
    [Abstract] [Full Text] [Related]

  • 7. 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. PubMed ID: 18331608
    [Abstract] [Full Text] [Related]

  • 8. Noonan syndrome: growth to growth hormone - the experience of observational studies.
    Ranke MB.
    Horm Res; 2009 Dec; 72 Suppl 2():36-40. PubMed ID: 20029235
    [Abstract] [Full Text] [Related]

  • 9. 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. PubMed ID: 15604238
    [Abstract] [Full Text] [Related]

  • 10. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
    Lee ST, Ki CS, Lee HJ.
    Clin Genet; 2007 Aug 15; 72(2):150-5. PubMed ID: 17661820
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 39(1):70-4. PubMed ID: 17143285
    [Abstract] [Full Text] [Related]

  • 12. 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 Jan 15; 51(6):566-72. PubMed ID: 18678287
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 90(9):5377-81. PubMed ID: 15985475
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 159(3):203-8. PubMed ID: 18562489
    [Abstract] [Full Text] [Related]

  • 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 Sep 15; 77(6):388-93. PubMed ID: 22777296
    [Abstract] [Full Text] [Related]

  • 16. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.
    Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Moghaddam M, Westermark B, Annerén G, Bondeson ML.
    Eur J Med Genet; 2010 Sep 15; 53(3):117-21. PubMed ID: 20302979
    [Abstract] [Full Text] [Related]

  • 17. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.
    Fabretto A, Kutsche K, Harmsen MB, Demarini S, Gasparini P, Fertz MC, Zenker M.
    Eur J Med Genet; 2010 Sep 15; 53(5):322-4. PubMed ID: 20673819
    [Abstract] [Full Text] [Related]

  • 18. SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
    Swanson KD, Winter JM, Reis M, Bentires-Alj M, Greulich H, Grewal R, Hruban RH, Yeo CJ, Yassin Y, Iartchouk O, Montgomery K, Whitman SP, Caligiuri MA, Loh ML, Gilliland DG, Look AT, Kucherlapati R, Kern SE, Meyerson M, Neel BG.
    Genes Chromosomes Cancer; 2008 Mar 15; 47(3):253-9. PubMed ID: 18064648
    [Abstract] [Full Text] [Related]

  • 19. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
    Ogata T, Yoshida R.
    Pediatr Endocrinol Rev; 2005 Jun 15; 2(4):669-74. PubMed ID: 16208280
    [Abstract] [Full Text] [Related]

  • 20. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
    Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y.
    Hum Mutat; 2010 Mar 15; 31(3):284-94. PubMed ID: 20052757
    [Abstract] [Full Text] [Related]

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