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Items: 1 to 20 of 725

1.
Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome
Lisa L. Wang, Kim Worley, Anu Gannavarapu, Murali M. Chintagumpala, Moise L. Levy, Sharon E. Plon
Am J Hum Genet. 2002 Jul; 71(1): 165–167. Published online 2002 May 9. doi: 10.1086/341234
PMCID:
PMC384974
AbstractArticlePDF–96K
2.
Rare Presentation of a Rare Disease: Signet-Ring Cell Gastric Adenocarcinoma in Rothmund-Thomson Syndrome
Zeeshan Ali, Pritika S Manaktala, Saro Sarkisian, Muhammad Rizvi
Cureus. 2020 Dec; 12(12): e11865. Published online 2020 Dec 3. doi: 10.7759/cureus.11865
PMCID:
PMC7781574
AbstractArticlePDF–989K
3.
Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma
Miriam Gutiérrez-Jimeno, Elena Panizo-Morgado, Ibon Tamayo, Mikel San Julián, Ana Catalán-Lambán, Marta M. Alonso, Ana Patiño-García
NPJ Genom Med. 2020; 5: 51. Published online 2020 Dec 4. doi: 10.1038/s41525-020-00160-x
PMCID:
PMC7718910
AbstractArticlePDF–1016K
4.
Analysis of genomic instability using multiple assays in a patient with Rothmund–Thomson syndrome
SG Grant, SL Wenger, JJ Latimer, D Thull, LW Burke
Clin Genet. Author manuscript; available in PMC 2016 Jan 14.
Published in final edited form as: Clin Genet. 2000 Sep; 58(3): 209–215. doi: 10.1034/j.1399-0004.2000.580308.x
PMCID:
PMC4712958
AbstractArticlePDF–475K
5.
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.
B Kerr, G S Ashcroft, D Scott, M A Horan, M W Ferguson, D Donnai
J Med Genet. 1996 Nov; 33(11): 928–934. doi: 10.1136/jmg.33.11.928
PMCID:
PMC1050787
SummaryPage BrowsePDF–2.4M
6.
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.
K H Orstavik, N McFadden, J Hagelsteen, E Ormerod, C B van der Hagen
J Med Genet. 1994 Jul; 31(7): 570–572. doi: 10.1136/jmg.31.7.570
PMCID:
PMC1049982
SummaryPage BrowsePDF–711K
7.
Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
K L Ying, J Oizumi, C J Curry
J Med Genet. 1990 Apr; 27(4): 258–260. doi: 10.1136/jmg.27.4.258
PMCID:
PMC1017030
SummaryPage BrowsePDF–447K
8.
Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
Aude‐Annick Suter, Peter Itin, Karl Heinimann, Munaza Ahmed, Tazeen Ashraf, Helen Fryssira, Usha Kini, Pablo Lapunzina, Peter Miny, Mette Sommerlund, Mohnish Suri, Signe Vaeth, Pradeep Vasudevan, Sabina Gallati
Mol Genet Genomic Med. 2016 May; 4(3): 359–366. Published online 2016 Feb 24. doi: 10.1002/mgg3.209
PMCID:
PMC4867568
AbstractArticlePDF–777K
9.
Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome
Katharina Morant Holanda De Oliveira, Raquel Assed Bezerra Silva, Fabricio Kitazono Carvalho, Lea Assed Bezerra Silva, Paulo Nelson-Filho, Alexandra Mussolino Queiroz
Contemp Clin Dent. 2016 Apr-Jun; 7(2): 240–242. doi: 10.4103/0976-237X.183052
PMCID:
PMC4906872
AbstractArticlePDF–1.0M
10.
Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations
B. Zirn, U. Bernbeck, K. Alt, F. Oeffner, A. Gerhardinger, C. Has
Skin Health Dis. 2021 Mar; 1(1): e12. Published online 2021 Feb 12. doi: 10.1002/ski2.12
PMCID:
PMC9060067
AbstractArticlePDF–360K
11.
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents
Weidong Jin, Hao Liu, Yiqun Zhang, Subhendu K. Otta, Sharon E. Plon, Lisa L. Wang
Hum Genet. Author manuscript; available in PMC 2009 Jul 1.
Published in final edited form as: Hum Genet. 2008 Jul; 123(6): 643–653. Published online 2008 May 27. doi: 10.1007/s00439-008-0518-4
PMCID:
PMC2585174
AbstractArticlePDF–440K
12.
Drosophila Homologue of the Rothmund-Thomson Syndrome Gene: Essential Function in DNA Replication During Development
Jianhong Wu, Christopher Capp, Liping Feng, Tao-shih Hsieh
Dev Biol. Author manuscript; available in PMC 2009 Nov 1.
Published in final edited form as: Dev Biol. 2008 Nov 1; 323(1): 130–142. Published online 2008 Aug 15. doi: 10.1016/j.ydbio.2008.08.006
PMCID:
PMC2600506
AbstractArticlePDF–3.4M
13.
Dual DNA unwinding activities of the Rothmund–Thomson syndrome protein, RECQ4
Xiaohua Xu, Yilun Liu
EMBO J. 2009 Mar 4; 28(5): 568–577. Published online 2009 Jan 29. doi: 10.1038/emboj.2009.13
PMCID:
PMC2657580
AbstractArticlePDF–745K
14.
A Chinese patient with Rothmund–Thomson syndrome
Juan Zeng, Jiayi Li, Yuwei Liu, Rui Liang, Lin Wang, Qing Zhou, Jinghua Sun, Zhongzhen Liu, Wen‐Jing Wang, Sujun Zhu
Mol Genet Genomic Med. 2024 Jan; 12(1): e2347. Published online 2023 Dec 22. doi: 10.1002/mgg3.2347
PMCID:
PMC10767680
AbstractArticlePDF–2.0M
15.
RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance
Avik K. Ghosh, Marie L. Rossi, Dharmendra Kumar Singh, Christopher Dunn, Mahesh Ramamoorthy, Deborah L. Croteau, Yie Liu, Vilhelm A. Bohr
J Biol Chem. 2012 Jan 2; 287(1): 196–209. Published online 2011 Oct 28. doi: 10.1074/jbc.M111.295063
PMCID:
PMC3249070
AbstractArticlePDF–3.4M
16.
Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome
M. C. van Rij, M. L. Grijsen, N. M. Appelman-Dijkstra, K. B. M. Hansson, C. A. L. Ruivenkamp, K. Mulder, R. van Doorn, A. P. Oranje, S. G. Kant
Eur J Pediatr. 2017; 176(2): 279–283. Published online 2016 Dec 30. doi: 10.1007/s00431-016-2834-3
PMCID:
PMC5243887
AbstractArticlePDF–727K
17.
Rothmund-Thomson syndrome, a disorder far from solved
Davi Jardim Martins, Ricardo Di Lazzaro Filho, Debora Romeo Bertola, Nícolas Carlos Hoch
Front Aging. 2023; 4: 1296409. Published online 2023 Nov 10. doi: 10.3389/fragi.2023.1296409
PMCID:
PMC10676203
AbstractArticlePDF–1.1M
18.
Ophthalmic manifestations in Rothmund–Thomson syndrome: Case report and review of literature
J T Chinmayee, G R Meghana, R K Prathiba, T K Ramesh
Indian J Ophthalmol. 2017 Oct; 65(10): 1025–1027. doi: 10.4103/ijo.IJO_89_17
PMCID:
PMC5678305
AbstractArticlePDF–1.3M
19.
Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation
Anas Salih, Susumu Inoue, Nkechi Onwuzurike
BMJ Case Rep. 2018; 2018: bcr2017222384. Published online 2018 Jan 23. doi: 10.1136/bcr-2017-222384
PMCID:
PMC5786930
AbstractArticlePDF–724K
20.
Rothmund-Thomson syndrome
Lidia Larizza, Gaia Roversi, Ludovica Volpi
Orphanet J Rare Dis. 2010; 5: 2. Published online 2010 Jan 29. doi: 10.1186/1750-1172-5-2
PMCID:
PMC2826297
AbstractArticlePDF–755K

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