170 related articles for article (PubMed ID: 20503338)
1. Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.
Simon T; Kohlhase J; Wilhelm C; Kochanek M; De Carolis B; Berthold F
Am J Med Genet A; 2010 Jun; 152A(6):1575-9. PubMed ID: 20503338
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.
Sznajer Y; Siitonen HA; Roversi G; Dangoisse C; Scaillon M; Ziereisen F; Tenoutasse S; Kestilä M; Larizza L
Eur J Pediatr; 2008 Feb; 167(2):175-81. PubMed ID: 17372760
[TBL] [Abstract][Full Text] [Related]
6. RECQ DNA helicases and osteosarcoma.
Lu L; Jin W; Liu H; Wang LL
Adv Exp Med Biol; 2014; 804():129-45. PubMed ID: 24924172
[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. RECQ DNA Helicases and Osteosarcoma.
Lu L; Jin W; Wang LL
Adv Exp Med Biol; 2020; 1258():37-54. PubMed ID: 32767233
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.
Carlson AM; Lindor NM; Litzow MR
Eur J Haematol; 2011 Jun; 86(6):536-40. PubMed ID: 21418107
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.
Wang T; Chen L; She Q; Dong Y; Deng Y
J Dermatol Sci; 2018 Sep; 91(3):335-337. PubMed ID: 30007837
[No Abstract] [Full Text] [Related]
15. A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.
Zhang J; Yan M; Cheng R; Ni C; Liang J; Li M; Yao Z
J Eur Acad Dermatol Venereol; 2016 Nov; 30(11):e159-e161. PubMed ID: 26515231
[No Abstract] [Full Text] [Related]
16. The DNA helicase recql4 is required for normal osteoblast expansion and osteosarcoma formation.
Ng AJ; Walia MK; Smeets MF; Mutsaers AJ; Sims NA; Purton LE; Walsh NC; Martin TJ; Walkley CR
PLoS Genet; 2015 Apr; 11(4):e1005160. PubMed ID: 25859855
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.
Dietschy T; Shevelev I; Stagljar I
Cell Mol Life Sci; 2007 Apr; 64(7-8):796-802. PubMed ID: 17364146
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
