BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 33294214)

  • 1. Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.
    Gutiérrez-Jimeno M; Panizo-Morgado E; Tamayo I; San Julián M; Catalán-Lambán A; Alonso MM; Patiño-García A
    NPJ Genom Med; 2020; 5():51. PubMed ID: 33294214
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic
    Jiang C; Zhang H; Zhao C; Wang L; Hu X; Pan Z
    Blood Sci; 2023 Apr; 5(2):125-130. PubMed ID: 37228773
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Rothmund-Thomson syndrome, a disorder far from solved.
    Martins DJ; Di Lazzaro Filho R; Bertola DR; Hoch NC
    Front Aging; 2023; 4():1296409. PubMed ID: 38021400
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The etiology of osteosarcoma.
    Ottaviani G; Jaffe N
    Cancer Treat Res; 2009; 152():15-32. PubMed ID: 20213384
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome.
    Jewell BE; Xu A; Zhu D; Huang MF; Lu L; Liu M; Underwood EL; Park JH; Fan H; Gingold JA; Zhou R; Tu J; Huo Z; Liu Y; Jin W; Chen YH; Xu Y; Chen SH; Rainusso N; Berg NK; Bazer DA; Vellano C; Jones P; Eltzschig HK; Zhao Z; Kaipparettu BA; Zhao R; Wang LL; Lee DF
    PLoS Genet; 2021 Dec; 17(12):e1009971. PubMed ID: 34965247
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
    Averdunk L; Huetzen MA; Moreno-Andrés D; Kalb R; McKee S; Hsieh TC; Seibt A; Schouwink M; Lalani S; Faqeih EA; Brunet T; Boor P; Neveling K; Hoischen A; Hildebrandt B; Graf E; Lu L; Jin W; Schaper J; Omer JA; Demaret T; Fleischer N; Schindler D; Krawitz P; Mayatepek E; Wieczorek D; Wang LL; Antonin W; Jachimowicz RD; von Felbert V; Distelmaier F
    Genet Med; 2023 Jul; 25(7):100836. PubMed ID: 37013901
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
    van Rij MC; Grijsen ML; Appelman-Dijkstra NM; Hansson KB; Ruivenkamp CA; Mulder K; van Doorn R; Oranje AP; Kant SG
    Eur J Pediatr; 2017 Feb; 176(2):279-283. PubMed ID: 28039508
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
    Suter AA; Itin P; Heinimann K; Ahmed M; Ashraf T; Fryssira H; Kini U; Lapunzina P; Miny P; Sommerlund M; Suri M; Vaeth S; Vasudevan P; Gallati S
    Mol Genet Genomic Med; 2016 May; 4(3):359-66. PubMed ID: 27247962
    [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 8.