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Items: 1 to 20 of 158

1.

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

Sakamoto K, Imamura T, Asai D, Goto-Kawashima S, Yoshida H, Fujiki A, Furutani A, Ishida H, Aoki Y, Hosoi H.

J Pediatr Hematol Oncol. 2014 Mar;36(2):e136-9. doi: 10.1097/MPH.0000000000000002.

PMID:
24072241
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
3.

Germline PTPN11 missense mutation in a case of Noonan syndrome associated with mediastinal and retroperitoneal neuroblastic tumors.

Mutesa L, Pierquin G, Janin N, Segers K, Thomée C, Provenzi M, Bours V.

Cancer Genet Cytogenet. 2008 Apr 1;182(1):40-2. doi: 10.1016/j.cancergencyto.2007.12.005.

4.

Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

Karow A, Steinemann D, Göhring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP.

Leukemia. 2007 Jun;21(6):1303-5. Epub 2007 Mar 15. No abstract available.

PMID:
17361219
5.

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
6.

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.

7.

Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

Yoshida R, Ogata T, Masawa N, Nagai T.

Pediatr Blood Cancer. 2008 Jun;50(6):1274-6. doi: 10.1002/pbc.21509.

PMID:
18253957
8.

Acute lymphoblastic leukemia in the context of RASopathies.

Cavé H, Caye A, Strullu M, Aladjidi N, Vignal C, Ferster A, Méchinaud F, Domenech C, Pierri F, Contet A, Cacheux V, Irving J, Kratz C, Clavel J, Verloes A.

Eur J Med Genet. 2016 Mar;59(3):173-8. doi: 10.1016/j.ejmg.2016.01.003. Epub 2016 Feb 5.

PMID:
26855057
9.

PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

Yamamoto T, Isomura M, Xu Y, Liang J, Yagasaki H, Kamachi Y, Kudo K, Kiyoi H, Naoe T, Kojma S.

Leuk Res. 2006 Sep;30(9):1085-9. Epub 2006 Mar 14.

PMID:
16533526
10.

Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.

Laux D, Kratz C, Sauerbrey A.

J Pediatr Hematol Oncol. 2008 Aug;30(8):602-4. doi: 10.1097/MPH.0b013e31817588fb.

PMID:
18799937
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;39(1):70-4. Epub 2006 Dec 3.

PMID:
17143285
12.

A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.

Demir K, Yntema HG, Altincik A, Böber E.

Turk J Pediatr. 2010 May-Jun;52(3):321-4.

PMID:
20718194
13.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N.

Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16.

14.

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
15.

Acute lymphoblastic leukaemia in Noonan syndrome.

Roti G, La Starza R, Ballanti S, Crescenzi B, Romoli S, Foá R, Tartaglia M, Aversa F, Fabrizio Martelli M, Mecucci C.

Br J Haematol. 2006 May;133(4):448-50. No abstract available.

PMID:
16643459
16.

Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

Piard J, Verloes A, Cavé H, Peuchmaur M, Bennaceur S, Leheup B.

Am J Med Genet A. 2012 Jun;158A(6):1406-10. doi: 10.1002/ajmg.a.35329. Epub 2012 Apr 23.

PMID:
22528600
17.

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
18.

Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation.

Chantrain CF, Jijon P, De Raedt T, Vermylen C, Poirel HA, Legius E, Brichard B.

Pediatr Blood Cancer. 2007 Jan;48(1):101-4.

PMID:
16078230
20.

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A.

Rev Neurol. 2015 May 1;60(9):408-12. Review. Spanish.

PMID:
25912702

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