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Results: 1 to 20 of 168

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
22753870
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.

Park HD, Lee SH, Sung KW, Koo HH, Jung NG, Cho B, Kim HK, Park IA, Lee KO, Ki CS, Kim SH, Yoo KH, Kim HJ.

Ann Hematol. 2012 Apr;91(4):511-7. doi: 10.1007/s00277-011-1326-9. Epub 2011 Sep 8.

PMID:
21901340
[PubMed - indexed for MEDLINE]
11.

[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
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
17704260
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

Ko JM, Kim JM, Kim GH, Yoo HW.

J Hum Genet. 2008;53(11-12):999-1006. doi: 10.1007/s10038-008-0343-6. Epub 2008 Nov 20.

PMID:
19020799
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM, Ekvall S, Berglund E, Björkqvist M, Braathen G, Duchen K, Enell H, Holmberg E, Holmlund U, Olsson-Engman M, Annerén G, Bondeson ML.

J Med Genet. 2008 Aug;45(8):500-6. doi: 10.1136/jmg.2008.057653. Epub 2008 May 2.

PMID:
18456719
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Denayer E, Devriendt K, de Ravel T, Van Buggenhout G, Smeets E, Francois I, Sznajer Y, Craen M, Leventopoulos G, Mutesa L, Vandecasseye W, Massa G, Kayserili H, Sciot R, Fryns JP, Legius E.

Genes Chromosomes Cancer. 2010 Mar;49(3):242-52. doi: 10.1002/gcc.20735.

PMID:
19953625
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
15928039
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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