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Items: 1 to 20 of 169

1.

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
2.

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
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.

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.

5.

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.

6.

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
7.

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
8.

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
9.

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
10.

RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia.

Lipka DB, Witte T, Toth R, Yang J, Wiesenfarth M, Nöllke P, Fischer A, Brocks D, Gu Z, Park J, Strahm B, Wlodarski M, Yoshimi A, Claus R, Lübbert M, Busch H, Boerries M, Hartmann M, Schönung M, Kilik U, Langstein J, Wierzbinska JA, Pabst C, Garg S, Catalá A, De Moerloose B, Dworzak M, Hasle H, Locatelli F, Masetti R, Schmugge M, Smith O, Stary J, Ussowicz M, van den Heuvel-Eibrink MM, Assenov Y, Schlesner M, Niemeyer C, Flotho C, Plass C.

Nat Commun. 2017 Dec 19;8(1):2126. doi: 10.1038/s41467-017-02177-w.

11.

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.

12.

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
13.

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

Mulero-Navarro S, Sevilla A, Roman AC, Lee DF, D'Souza SL, Pardo S, Riess I, Su J, Cohen N, Schaniel C, Rodriguez NA, Baccarini A, Brown BD, Cavé H, Caye A, Strullu M, Yalcin S, Park CY, Dhandapany PS, Yongchao G, Edelmann L, Bahieg S, Raynal P, Flex E, Tartaglia M, Moore KA, Lemischka IR, Gelb BD.

Cell Rep. 2015 Oct 20;13(3):504-515. doi: 10.1016/j.celrep.2015.09.019. Epub 2015 Oct 8.

14.

Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations.

Sugimoto Y, Muramatsu H, Makishima H, Prince C, Jankowska AM, Yoshida N, Xu Y, Nishio N, Hama A, Yagasaki H, Takahashi Y, Kato K, Manabe A, Kojima S, Maciejewski JP.

Br J Haematol. 2010 Jul;150(1):83-7. doi: 10.1111/j.1365-2141.2010.08196.x. Epub 2010 Apr 12.

PMID:
20408841
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.

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
17.

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
18.

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
19.

Leukaemogenic effects of Ptpn11 activating mutations in the stem cell microenvironment.

Dong L, Yu WM, Zheng H, Loh ML, Bunting ST, Pauly M, Huang G, Zhou M, Broxmeyer HE, Scadden DT, Qu CK.

Nature. 2016 Nov 10;539(7628):304-308. doi: 10.1038/nature20131. Epub 2016 Oct 26.

20.

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.

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