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Page 1
Primary patellar tumors.
Ferguson PC, Griffin AM, Bell RS. Ferguson PC, et al. Clin Orthop Relat Res. 1997 Mar;(336):199-204. doi: 10.1097/00003086-199703000-00028. Clin Orthop Relat Res. 1997. PMID: 9060506
Six cases were benign (5 giant cell tumors and 1 chondroblastoma), and there were 2 malignant tumors (osteosarcoma and malignant fibrous histiocytoma). Both patients with malignant lesions had Rothmund-Thomson syndrome. Benign pulmonary metastases developed i …
Six cases were benign (5 giant cell tumors and 1 chondroblastoma), and there were 2 malignant tumors (osteosarcoma and malignant fibrous his …
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. Mehollin-Ray AR, et al. AJR Am J Roentgenol. 2008 Aug;191(2):W62-6. doi: 10.2214/AJR.07.3619. AJR Am J Roentgenol. 2008. PMID: 18647888
OBJECTIVE: The purpose of this study was to summarize the radiographic skeletal findings in patients with Rothmund-Thomson syndrome (RTS) and to determine whether there is an association between the presence of skeletal abnormalities and the mutational status …
OBJECTIVE: The purpose of this study was to summarize the radiographic skeletal findings in patients with Rothmund-Thomson …
Clinical utility gene card for: Rothmund-Thomson syndrome.
Larizza L, Roversi G, Verloes A. Larizza L, et al. Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188052 Free PMC article. No abstract available.
Human RECQL4 represses the RAD52-mediated single-strand annealing pathway after ionizing radiation or cisplatin treatment.
Kohzaki M, Ootsuyama A, Sun L, Moritake T, Okazaki R. Kohzaki M, et al. Int J Cancer. 2020 Jun 1;146(11):3098-3113. doi: 10.1002/ijc.32670. Epub 2019 Oct 6. Int J Cancer. 2020. PMID: 31495919 Free article.
RECQL4 mutations mainly in the C-terminal region of the RECQL4 gene lead to the cancer-predisposing Rothmund-Thomson syndrome, but the function of RECQL4deltaC (C-terminus deleted) in error-prone DNA repair remains unclear. ...
RECQL4 mutations mainly in the C-terminal region of the RECQL4 gene lead to the cancer-predisposing Rothmund-Thomson syndro …
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. ...
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attribute …