BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

384 related articles for article (PubMed ID: 20113479)

  • 1. Rothmund-Thomson syndrome.
    Larizza L; Roversi G; Volpi L
    Orphanet J Rare Dis; 2010 Jan; 5():2. PubMed ID: 20113479
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
    Lorenzo C; Travessa AM; Ferreira AC; Modamio-Høybjør S; Heath KE; Pereira C
    Am J Med Genet A; 2023 Jan; 191(1):280-283. PubMed ID: 36164748
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rothmund-Thomson syndrome (RTS) with osteosarcoma due to
    Salih A; Inoue S; Onwuzurike N
    BMJ Case Rep; 2018 Jan; 2018():. PubMed ID: 29367366
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel pathogenic variants in the RECQL4 gene causing Rothmund-Thomson syndrome in three Chinese patients.
    Zhang Y; Qin W; Wang H; Lin Z; Tang Z; Xu Z
    J Dermatol; 2021 Oct; 48(10):1511-1517. PubMed ID: 34155702
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
    Wang LL; Gannavarapu A; Kozinetz CA; Levy ML; Lewis RA; Chintagumpala MM; Ruiz-Maldanado R; Contreras-Ruiz J; Cunniff C; Erickson RP; Lev D; Rogers M; Zackai EH; Plon SE
    J Natl Cancer Inst; 2003 May; 95(9):669-74. PubMed ID: 12734318
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome.
    Gui B; Song Y; Hu X; Li H; Qin Z; Su J; Li C; Fan X; Li M; Luo J; Feng Y; Song L; Chen S; Gong C; Shen Y
    Gene; 2018 May; 654():110-115. PubMed ID: 29462647
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The mutation spectrum in RECQL4 diseases.
    Siitonen HA; Sotkasiira J; Biervliet M; Benmansour A; Capri Y; Cormier-Daire V; Crandall B; Hannula-Jouppi K; Hennekam R; Herzog D; Keymolen K; Lipsanen-Nyman M; Miny P; Plon SE; Riedl S; Sarkar A; Vargas FR; Verloes A; Wang LL; Kääriäinen H; Kestilä M
    Eur J Hum Genet; 2009 Feb; 17(2):151-8. PubMed ID: 18716613
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
    Kaneko H; Takemoto M; Murakami H; Ihara K; Kosaki R; Motegi SI; Taniguchi A; Matsuo M; Yamazaki N; Nishigori C; Takita J; Koshizaka M; Maezawa Y; Yokote K
    Pediatr Int; 2022 Jan; 64(1):e15120. PubMed ID: 35616152
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cancer risk among RECQL4 heterozygotes.
    Martin-Giacalone BA; Rideau TT; Scheurer ME; Lupo PJ; Wang LL
    Cancer Genet; 2022 Apr; 262-263():107-110. PubMed ID: 35219053
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
    Jin W; Liu H; Zhang Y; Otta SK; Plon SE; Wang LL
    Hum Genet; 2008 Jul; 123(6):643-53. PubMed ID: 18504617
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rothmund-thomson syndrome: a 13-year follow-up.
    Guerrero-González GA; Martínez-Cabriales SA; Hernández-Juárez AA; de Jesús Lugo-Trampe J; Espinoza-González NA; Gómez-Flores M; Ocampo-Candiani J
    Case Rep Dermatol; 2014 May; 6(2):176-9. PubMed ID: 25120469
    [TBL] [Abstract][Full Text] [Related]  

  • 12. RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.
    Beghini A; Castorina P; Roversi G; Modiano P; Larizza L
    Am J Med Genet A; 2003 Jul; 120A(3):395-9. PubMed ID: 12838562
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.
    Lu L; Jin W; Wang LL
    Ageing Res Rev; 2017 Jan; 33():30-35. PubMed ID: 27287744
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
    Ajeawung NF; Nguyen TTM; Lu L; Kucharski TJ; Rousseau J; Molidperee S; Atienza J; Gamache I; Jin W; Plon SE; Lee BH; Teodoro JG; Wang LL; Campeau PM
    Am J Hum Genet; 2019 Sep; 105(3):625-630. PubMed ID: 31303264
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents.
    Cabral RE; Queille S; Bodemer C; de Prost Y; Neto JB; Sarasin A; Daya-Grosjean L
    Mutat Res; 2008 Aug; 643(1-2):41-7. PubMed ID: 18616953
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.
    Marmolejo Castañeda DH; Cruellas Lapeña M; Carrasco López E; Aparicio Español G; Valverde Morales C; López-Fernández A; Pérez Ballesteros E; Torres-Esquius S; Pardo Muñoz M; Balmaña Gelpi J
    Fam Cancer; 2023 Jan; 22(1):99-102. PubMed ID: 35781852
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
    Colombo EA; Fontana L; Roversi G; Negri G; Castiglia D; Paradisi M; Zambruno G; Larizza L
    Eur J Hum Genet; 2014 Nov; 22(11):1298-304. PubMed ID: 24518840
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
    Balajee AS
    Cytogenet Genome Res; 2021; 161(6-7):305-327. PubMed ID: 34474412
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 20.