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Items: 1 to 20 of 162

1.

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
2.

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML.

Nat Genet. 2010 Sep;42(9):794-800. doi: 10.1038/ng.641. Epub 2010 Aug 8.

3.

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
4.

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S, Mullighan CG, Chen L, Bergstraesser E, Bueso-Ramos CE, Emanuel PD, Hasle H, Issa JP, van den Heuvel-Eibrink MM, Locatelli F, Stary J, Trebo M, Wlodarski M, Zecca M, Shannon KM, Niemeyer CM.

Blood. 2009 Aug 27;114(9):1859-63. doi: 10.1182/blood-2009-01-198416. Epub 2009 Jul 1.

5.

Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.

Muraoka M, Okuma C, Kanamitsu K, Ishida H, Kanazawa Y, Washio K, Seki M, Kato M, Takita J, Sato Y, Ogawa S, Tsukahara H, Oda M, Shimada A.

J Hum Genet. 2016 Jun;61(6):523-6. doi: 10.1038/jhg.2016.8. Epub 2016 Feb 25.

PMID:
26911351
6.

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.

7.

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.

Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M.

J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25.

PMID:
28343148
8.

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.

9.

Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.

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

Blood. 2010 Mar 11;115(10):1969-75. doi: 10.1182/blood-2009-06-226340. Epub 2009 Dec 11.

10.

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
11.

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
12.

Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.

Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S.

Am J Med Genet A. 2014 Apr;164A(4):1003-9. doi: 10.1002/ajmg.a.36375. Epub 2014 Jan 23.

PMID:
24458550
13.

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

Pérez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, Derain-Court J, Cassinat B, Lachenaud J, Kaltenbach S, Salmon A, Désirée C, Pereira S, Menot ML, Royer N, Fenneteau O, Baruchel A, Chomienne C, Verloes A, Cavé H.

J Med Genet. 2010 Oct;47(10):686-91. doi: 10.1136/jmg.2010.076836. Epub 2010 Jun 12.

14.

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
15.

A case of splenomegaly in CBL syndrome.

Coe RR, McKinnon ML, Tarailo-Graovac M, Ross CJ, Wasserman WW, Friedman JM, Rogers PC, van Karnebeek CDM.

Eur J Med Genet. 2017 Jul;60(7):374-379. doi: 10.1016/j.ejmg.2017.04.009. Epub 2017 Apr 13.

PMID:
28414188
16.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M.

Hum Mutat. 2015 Aug;36(8):787-96. doi: 10.1002/humu.22809. Epub 2015 Jun 1.

17.

[Juvenile myelomonocytic leukemias].

Lachenaud J, Strullu M, Baruchel A, Cavé H.

Bull Cancer. 2014 Mar;101(3):302-13. doi: 10.1684/bdc.2014.1908. Review. French.

PMID:
24691193
18.

Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Caporaso N, Greene MH, Goldin LR, Stewart DR.

Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5.

PMID:
25939664
19.

RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.

Brand K, Kentsch H, Glashoff C, Rosenberger G.

Hum Mutat. 2014 Nov;35(11):1372-81. doi: 10.1002/humu.22682.

PMID:
25178484
20.

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

Bülow L, Lissewski C, Bressel R, Rauch A, Stark Z, Zenker M, Bartsch O.

Am J Med Genet A. 2015 Feb;167A(2):394-9. doi: 10.1002/ajmg.a.36838. Epub 2014 Oct 30.

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