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Items: 1 to 20 of 208

1.

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
2.

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.

3.

Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

Pauli S, Steinemann D, Dittmann K, Wienands J, Shoukier M, Möschner M, Burfeind P, Manukjan G, Göhring G, Escherich G.

Am J Med Genet A. 2012 Mar;158A(3):652-8. doi: 10.1002/ajmg.a.34439. Epub 2012 Feb 7.

PMID:
22315187
4.

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
5.

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-Oct;53(5):322-4. doi: 10.1016/j.ejmg.2010.07.011. Epub 2010 Jul 29.

PMID:
20673819
7.

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 May-Jun;53(3):117-21. doi: 10.1016/j.ejmg.2010.03.001. Epub 2010 Mar 17.

PMID:
20302979
8.

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y.

J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30.

PMID:
20882035
9.

Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia.

Doisaki S, Muramatsu H, Shimada A, Takahashi Y, Mori-Ezaki M, Sato M, Kawaguchi H, Kinoshita A, Sotomatsu M, Hayashi Y, Furukawa-Hibi Y, Yamada K, Hoshino H, Kiyoi H, Yoshida N, Sakaguchi H, Narita A, Wang X, Ismael O, Xu Y, Nishio N, Tanaka M, Hama A, Koike K, Kojima S.

Blood. 2012 Aug 16;120(7):1485-8. doi: 10.1182/blood-2012-02-406090. Epub 2012 Jul 2.

10.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N.

Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773.

PMID:
20461756
11.

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
12.

[RAS/MAPK signal transduction pathway and its role in the pathogenesis of Noonan syndrome].

Gos M, Leszkiewicz M, Abramowicz A.

Postepy Biochem. 2012;58(3):255-64. Review. Polish.

PMID:
23373411
13.

Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.

De Filippi P, Zecca M, Lisini D, Rosti V, Cagioni C, Carlo-Stella C, Radi O, Veggiotti P, Mastronuzzi A, Acquaviva A, D'Ambrosio A, Locatelli F, Danesino C.

Br J Haematol. 2009 Dec;147(5):706-9. doi: 10.1111/j.1365-2141.2009.07894.x. Epub 2009 Sep 22.

PMID:
19775298
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.

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

Longoni M, Moncini S, Cisternino M, Morella IM, Ferraiuolo S, Russo S, Mannarino S, Brazzelli V, Coi P, Zippel R, Venturin M, Riva P.

Am J Med Genet A. 2010 Sep;152A(9):2176-84. doi: 10.1002/ajmg.a.33564.

PMID:
20683980
16.

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.

Yagasaki H, Nakane T, Hasebe Y, Watanabe A, Kise H, Toda T, Koizumi K, Hoshiai M, Sugita K.

Am J Med Genet A. 2015 Dec;167A(12):3144-7. doi: 10.1002/ajmg.a.37295. Epub 2015 Aug 19.

PMID:
26286251
17.

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
18.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A.

Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13.

19.

Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.

Hyakuna N, Muramatsu H, Higa T, Chinen Y, Wang X, Kojima S.

Pediatr Blood Cancer. 2015 Mar;62(3):542-4. doi: 10.1002/pbc.25271. Epub 2014 Oct 4.

PMID:
25283271
20.

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome.

Mason-Suares H, Toledo D, Gekas J, Lafferty KA, Meeks N, Pacheco MC, Sharpe D, Mullen TE, Lebo MS.

Eur J Hum Genet. 2017 Apr;25(4):509-511. doi: 10.1038/ejhg.2016.202. Epub 2017 Jan 18.

PMID:
28098151

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