164 related articles for article (PubMed ID: 37228773)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
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. 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]
10. [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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
Jin W; Liu H; Zhang Y; Otta SK; Plon SE; Wang LL
Hum Genet; 2008 Jul; 123(6):643-53. PubMed ID: 18504617
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. ATP-dependent helicase activity is dispensable for the physiological functions of Recql4.
Castillo-Tandazo W; Smeets MF; Murphy V; Liu R; Hodson C; Heierhorst J; Deans AJ; Walkley CR
PLoS Genet; 2019 Jul; 15(7):e1008266. PubMed ID: 31276497
[TBL] [Abstract][Full Text] [Related]
19. Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W; Frazier AE; Sims NA; Smeets MF; Walkley CR
Mol Cell Biol; 2021 Feb; 41(3):e0059020. PubMed ID: 33361189
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
