157 related articles for article (PubMed ID: 35781852)
1. 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]
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. 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. 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]
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. 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]
8. 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]
9. 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]
10. [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]
11. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.
Lindor NM; Furuichi Y; Kitao S; Shimamoto A; Arndt C; Jalal S
Am J Med Genet; 2000 Jan; 90(3):223-8. PubMed ID: 10678659
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
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. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Siitonen HA; Kopra O; Kääriäinen H; Haravuori H; Winter RM; Säämänen AM; Peltonen L; Kestilä M
Hum Mol Genet; 2003 Nov; 12(21):2837-44. PubMed ID: 12952869
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. [Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome].
Wu Q; Weng W; Yuan J; Xu X; Huang K; Dong G; Fu J; Wu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):31-34. PubMed ID: 34964962
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]