BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 35616152)

  • 1. 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]  

  • 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. 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]  

  • 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. 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
    De Somer L; Wouters C; Morren MA; De Vos R; Van Den Oord J; Devriendt K; Meyts I
    Orphanet J Rare Dis; 2010 Dec; 5():37. PubMed ID: 21143835
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.
    Sánchez-Padilla AP; Valencia-Herrera AM; Toledo-Bahena ME; Mena-Cedillos CA; Toussaint-Caire S
    Bol Med Hosp Infant Mex; 2022; 79(1):56-61. PubMed ID: 35086131
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.
    Yadav S; Thakur S; Kohlhase J; Bhari N; Kabra M; Gupta N
    J Pediatr Genet; 2019 Sep; 8(3):163-167. PubMed ID: 31406625
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].
    Durand F; Castorina P; Morant C; Delobel B; Barouk E; Modiano P
    Ann Dermatol Venereol; 2002; 129(6-7):892-5. PubMed ID: 12218919
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Chinese patient with Rothmund-Thomson syndrome.
    Zeng J; Li J; Liu Y; Liang R; Wang L; Zhou Q; Sun J; Liu Z; Wang WJ; Zhu S
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2347. PubMed ID: 38131666
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.