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Items: 1 to 20 of 148

1.

K-RasV14I recapitulates Noonan syndrome in mice.

Hernández-Porras I, Fabbiano S, Schuhmacher AJ, Aicher A, Cañamero M, Cámara JA, Cussó L, Desco M, Heeschen C, Mulero F, Bustelo XR, Guerra C, Barbacid M.

Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16395-400. doi: 10.1073/pnas.1418126111. Epub 2014 Oct 30.

2.

K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.

Hernández-Porras I, Schuhmacher AJ, Garcia-Medina R, Jiménez B, Cañamero M, de Martino A, Guerra C.

J Pathol. 2016 Jun;239(2):206-17. doi: 10.1002/path.4719. Epub 2016 Apr 26.

PMID:
27174785
3.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.

J Med Genet. 2007 Dec;44(12):763-71. Epub 2007 Aug 17.

4.

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.

Pediatr Int. 2010 Aug;52(4):557-62. doi: 10.1111/j.1442-200X.2009.03020.x.

PMID:
20030748
5.

Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

Chen PC, Wakimoto H, Conner D, Araki T, Yuan T, Roberts A, Seidman C, Bronson R, Neel B, Seidman JG, Kucherlapati R.

J Clin Invest. 2010 Dec;120(12):4353-65. doi: 10.1172/JCI43910.

6.

A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.

Nemcikova M, Vejvalkova S, Fencl F, Sukova M, Krepelova A.

Eur J Pediatr. 2016 Apr;175(4):587-92. doi: 10.1007/s00431-015-2658-6. Epub 2015 Oct 31. Review.

PMID:
26518681
7.

Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

Araki T, Mohi MG, Ismat FA, Bronson RT, Williams IR, Kutok JL, Yang W, Pao LI, Gilliland DG, Epstein JA, Neel BG.

Nat Med. 2004 Aug;10(8):849-57. Epub 2004 Jul 25.

PMID:
15273746
8.

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

Timeus F, Crescenzio N, Baldassarre G, Doria A, Vallero S, Foglia L, Pagliano S, Rossi C, Silengo MC, Ramenghi U, Fagioli F, Cordero di Montezemolo L, Ferrero GB.

Oncol Rep. 2013 Aug;30(2):553-9. doi: 10.3892/or.2013.2535. Epub 2013 Jun 11.

9.

[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].

Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B.

Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4. Spanish.

PMID:
25194980
10.

The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).

Hernández-Porras I, Jiménez-Catalán B, Schuhmacher AJ, Guerra C.

Rare Dis. 2015 May 22;3(1):e1045169. doi: 10.1080/21675511.2015.1045169. eCollection 2015.

11.

Myeloproliferative disorder in Noonan syndrome.

Bastida P, García-Miñaúr S, Ezquieta B, Dapena JL, Sanchez de Toledo J.

J Pediatr Hematol Oncol. 2011 Jan;33(1):e43-5. doi: 10.1097/MPH.0b013e3181e7571e.

PMID:
20829714
12.

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML.

Blood. 2005 Sep 15;106(6):2183-5. Epub 2005 May 31.

13.

Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

Tidyman WE, Rauen KA.

Expert Rev Mol Med. 2008 Dec 9;10:e37. doi: 10.1017/S1462399408000902. Review.

PMID:
19063751
14.

MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.

Wu X, Simpson J, Hong JH, Kim KH, Thavarajah NK, Backx PH, Neel BG, Araki T.

J Clin Invest. 2011 Mar;121(3):1009-25. doi: 10.1172/JCI44929. Epub 2011 Feb 21.

15.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M.

Hum Mutat. 2009 Apr;30(4):695-702. doi: 10.1002/humu.20955.

16.

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

Ekvall S, Wilbe M, Dahlgren J, Legius E, van Haeringen A, Westphal O, Annerén G, Bondeson ML.

BMC Med Genet. 2015 Oct 14;16:95. doi: 10.1186/s12881-015-0239-1. Review.

17.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.

Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.

PMID:
26714497
18.

A MEK inhibitor abrogates myeloproliferative disease in Kras mutant mice.

Lyubynska N, Gorman MF, Lauchle JO, Hong WX, Akutagawa JK, Shannon K, Braun BS.

Sci Transl Med. 2011 Mar 30;3(76):76ra27. doi: 10.1126/scitranslmed.3001069.

19.

Juvenile myelomonocytic leukaemia and Noonan syndrome.

Strullu M, Caye A, Lachenaud J, Cassinat B, Gazal S, Fenneteau O, Pouvreau N, Pereira S, Baumann C, Contet A, Sirvent N, Méchinaud F, Guellec I, Adjaoud D, Paillard C, Alberti C, Zenker M, Chomienne C, Bertrand Y, Baruchel A, Verloes A, Cavé H.

J Med Genet. 2014 Oct;51(10):689-97. doi: 10.1136/jmedgenet-2014-102611. Epub 2014 Aug 5.

PMID:
25097206
20.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia.

Kraoua L, Journel H, Bonnet P, Amiel J, Pouvreau N, Baumann C, Verloes A, Cavé H.

Am J Med Genet A. 2012 Oct;158A(10):2407-11. doi: 10.1002/ajmg.a.35513. Epub 2012 Aug 7.

PMID:
22887781

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