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Items: 1 to 20 of 216

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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
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
10.

Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7.

O'Halloran K, Ritchey AK, Djokic M, Friehling E.

Pediatr Blood Cancer. 2017 Jul;64(7). doi: 10.1002/pbc.26408. Epub 2017 Jan 13.

PMID:
28084675
11.

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.

12.

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y.

J Hum Genet. 2005;50(4):192-202. Epub 2005 Apr 15.

PMID:
15834506
13.

Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients.

Lavin VA, Hamid R, Patterson J, Alford C, Ho R, Yang E.

Pediatr Blood Cancer. 2008 Aug;51(2):298-302. doi: 10.1002/pbc.21591.

PMID:
18454468
14.

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, Gelb BD.

Nat Genet. 2003 Jun;34(2):148-50.

PMID:
12717436
15.

Malignant diseases in Noonan syndrome and related disorders.

Hasle H.

Horm Res. 2009 Dec;72 Suppl 2:8-14. doi: 10.1159/000243773. Epub 2009 Dec 22. Review.

PMID:
20029231
16.

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.

17.

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.

18.

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
19.

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
20.

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

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