142 related articles for article (PubMed ID: 30007837)
1. 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]
2. 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]
3. Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.
Bhoyrul B; Lindsay H; Robinson R; Stahlschmidt J; Palmer T; Edward S; Clark SM
J Eur Acad Dermatol Venereol; 2018 Jun; 32(6):e221-e223. PubMed ID: 29224249
[No Abstract] [Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis.
Smeets MF; DeLuca E; Wall M; Quach JM; Chalk AM; Deans AJ; Heierhorst J; Purton LE; Izon DJ; Walkley CR
J Clin Invest; 2014 Aug; 124(8):3551-65. PubMed ID: 24960165
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.
Lu H; Fang EF; Sykora P; Kulikowicz T; Zhang Y; Becker KG; Croteau DL; Bohr VA
Cell Death Dis; 2014 May; 5(5):e1226. PubMed ID: 24832598
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Mo D; Zhao Y; Balajee AS
Cancer Lett; 2018 Jan; 413():1-10. PubMed ID: 29080750
[TBL] [Abstract][Full Text] [Related]
13. Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.
Wang LL; Gannavarapu A; Clericuzio CL; Erickson RP; Irvine AD; Plon SE
Am J Med Genet A; 2003 Apr; 118A(3):299-301. PubMed ID: 12673665
[No Abstract] [Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Clinical utility gene card for: Rothmund-Thomson syndrome.
Larizza L; Roversi G; Verloes A
Eur J Hum Genet; 2013 Jul; 21(7):. PubMed ID: 23188052
[No Abstract] [Full Text] [Related]
18. 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]
19. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.
Mehollin-Ray AR; Kozinetz CA; Schlesinger AE; Guillerman RP; Wang LL
AJR Am J Roentgenol; 2008 Aug; 191(2):W62-6. PubMed ID: 18647888
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]