PTPN11base
    Database for pathogenic variations in the SHP-2 SH2 domain
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PTPN11base mutation publications

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Search PubMed latest citations for PTPN11 mutations

    2009

  • Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
    Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A
    Am J Med Genet A 2009(6): 1263-7 [PubMed abstract].

  • A novel PTPN11 missense mutation in a patient with LEOPARD syndrome.
    Osawa R, Akiyama M, Yamanaka Y, Ujiie H, Nemoto-Hasebe I, Takeda A, Yanagi T, Shimizu H
    Br J Dermatol 2009(5): 1202-4 [PubMed abstract].

  • SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
    Beneteau C, Cavé H, Moncla A, Dorison N, Munnich A, Verloes A, Leheup B
    Eur J Hum Genet 2009(10): 1216-21 [PubMed abstract].

    2008

  • Genome wide analysis of pathogenic SH2 domain mutations.
    Lappalainen I, Thusberg J, Shen B, Vihinen M
    Proteins 2008(2): 779-92 [PubMed abstract].

  • Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD.
    Hou HA, Chou WC, Lin LI, Chen CY, Tang JL, Tseng MH, Huang CF, Chiou RJ, Lee FY, Liu MC, Tien HF
    Leukemia 2008(5): 1075-8 [PubMed abstract].

  • Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.
    Lo FS, Kuo TT, Wang CJ, Kuo MT, Kuo MC
    Int J Hematol 2008(3): 287-90 [PubMed abstract].

  • 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(1): 40-2 [PubMed abstract].

  • Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.
    Paulsson K, Horvat A, Strömbeck B, Nilsson F, Heldrup J, Behrendtz M, Forestier E, Andersson A, Fioretos T, Johansson B
    Genes Chromosomes Cancer 2008(1): 26-33 [PubMed abstract].

    2007

  • Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.
    Becker K, Hughes H, Howard K, Armstrong M, Roberts D, Lazda EJ, Short JP, Shaw A, Patton MA, Tartaglia M
    Am J Med Genet A 2007(11): 1249-52 [PubMed abstract].

  • 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(6): 1303-5 [PubMed abstract].

  • Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations.
    Christiansen DH, Desta F, Andersen MK, Pedersen-Bjergaard J
    Genes Chromosomes Cancer 2007(6): 517-21 [PubMed abstract].

  • Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.
    Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM
    Oncogene 2007(39): 5816-21 [PubMed abstract].

    2006

  • Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.
    Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, Hongo T, Taki T, Ogasawara M, Shimada A, Hayashi Y
    Genes Chromosomes Cancer 2006(6): 583-91 [PubMed abstract].

  • 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(4): 448-50 [PubMed abstract].

  • 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(9): 1085-9 [PubMed abstract].

  • Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome.
    Chen CY, Lin LI, Tang JL, Tsay W, Chang HH, Yeh YC, Huang CF, Chiou RJ, Yao M, Ko BS, Chen YC, Lin KH, Lin DT, Tien HF
    Leukemia 2006(6): 1155-8 [PubMed abstract].

    2005

  • 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(6): 2183-5 [PubMed abstract].

    2004

  • Genotype-phenotype correlations in Noonan syndrome.
    Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A
    J Pediatr 2004(3): 368-74 [PubMed abstract].

  • Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
    Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM
    Blood 2004(6): 2325-31 [PubMed abstract].

  • Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.
    Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, Biondi A
    Blood 2004(2): 307-13 [PubMed abstract].

    2003

  • PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
    Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E
    Eur J Hum Genet 2003(1): 85-8 [PubMed abstract].

  • Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
    Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM
    Eur J Hum Genet 2003(2): 201-6 [PubMed abstract].

  • Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.
    Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B
    J Med Genet 2003(9): 704-8 [PubMed abstract].

  • 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(2): 148-50 [PubMed abstract].

    2002

  • PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
    Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T
    J Clin Endocrinol Metab 2002(8): 3529-33 [PubMed abstract].

  • PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
    Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R
    Hum Mutat 2002(4): 298-304 [PubMed abstract].

  • PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
    Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
    Am J Hum Genet 2002(6): 1555-63 [PubMed abstract].

    2001

  • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
    Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD
    Nat Genet 2001(4): 465-8 [PubMed abstract].

    1991

  • Alcohol and cocaine use among first-year college students.
    Canterbury RJ, Gressard CF, Vieweg WV, Grossman SJ, Westerman PS, McKelway RB
    South Med J 1991(1): 13-7, 21 [PubMed abstract].

  • Clinical and molecular characterization of 40 patients with Noonan syndrome.
    Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC
    Eur J Med Genet (6): 566-72 [PubMed abstract].