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Items: 1 to 20 of 136

1.

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Salih A, Inoue S, Onwuzurike N.

BMJ Case Rep. 2018 Jan 23;2018. pii: bcr-2017-222384. doi: 10.1136/bcr-2017-222384.

PMID:
29367366
2.

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 28;413:1-10. doi: 10.1016/j.canlet.2017.10.021. Epub 2017 Nov 7. Review.

PMID:
29080750
3.

Tumor Syndromes That Include Bone Tumors: An Update.

Gnoli M, Ponti F, Sangiorgi L.

Surg Pathol Clin. 2017 Sep;10(3):749-764. doi: 10.1016/j.path.2017.04.009. Review.

PMID:
28797512
4.

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.

van Rij MC, Grijsen ML, Appelman-Dijkstra NM, Hansson KB, Ruivenkamp CA, Mulder K, van Doorn R, Oranje AP, Kant SG.

Eur J Pediatr. 2017 Feb;176(2):279-283. doi: 10.1007/s00431-016-2834-3. Epub 2016 Dec 30.

5.

Neurodegeneration in accelerated aging.

Scheibye-Knudsen M.

Dan Med J. 2016 Nov;63(11). pii: B5308. Review.

PMID:
27808039
6.

Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition.

Giordano CN, Yew YW, Spivak G, Lim HW.

J Am Acad Dermatol. 2016 Nov;75(5):855-870. doi: 10.1016/j.jaad.2016.03.045. Review.

PMID:
27745641
7.

Mitochondrial functions of RECQL4 are required for the prevention of aerobic glycolysis-dependent cell invasion.

Kumari J, Hussain M, De S, Chandra S, Modi P, Tikoo S, Singh A, Sagar C, Sepuri NB, Sengupta S.

J Cell Sci. 2016 Apr 1;129(7):1312-8. doi: 10.1242/jcs.181297. Epub 2016 Feb 18.

8.

Ocular manifestations of genetic skin disorders.

Jen M, Nallasamy S.

Clin Dermatol. 2016 Mar-Apr;34(2):242-75. doi: 10.1016/j.clindermatol.2015.11.008. Epub 2015 Dec 2. Review.

PMID:
26903188
9.

Osteosarcoma in patients with Rothmund-Thomson syndrome.

Zils K, Klingebiel T, Behnisch W, Mueller HL, Schlegel PG, Fruehwald M, Suttorp M, Simon T, Werner M, Bielack S.

Pediatr Hematol Oncol. 2015 Feb;32(1):32-40. doi: 10.3109/08880018.2014.987939. Epub 2014 Dec 31.

PMID:
25551679
10.

[Rare hereditary tumours].

Nagy P, Lahm E, Pápai Z.

Magy Onkol. 2014 Jun;58(2):94-7. Epub 2013 Nov 10. Hungarian.

11.

RECQ DNA helicases and osteosarcoma.

Lu L, Jin W, Liu H, Wang LL.

Adv Exp Med Biol. 2014;804:129-45. doi: 10.1007/978-3-319-04843-7_7. Review.

PMID:
24924172
12.

RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome.

Gupta S, De S, Srivastava V, Hussain M, Kumari J, Muniyappa K, Sengupta S.

Carcinogenesis. 2014 Jan;35(1):34-45. doi: 10.1093/carcin/bgt315. Epub 2013 Sep 25.

PMID:
24067899
13.

[Osteosarcoma in the patella in a patient with Rothmund-Thomson syndrome].

Smidt K, Nissen N, Sommerlund M, Jørgensen PH.

Ugeskr Laeger. 2013 Aug 12;175(33):1877-8. Danish.

PMID:
23937878
14.

Poikiloderma, hyperpigmentation, alopecia, hypohidrosis, malformed bones, lymphedema of the legs and decreased cortisol level: a new entity?

Zhao Y, Zang D, Xu H, Shan SJ, Zhou C, Zhang J.

J Dermatol. 2013 Apr;40(4):307-8. doi: 10.1111/1346-8138.12090. Epub 2013 Jan 21. No abstract available.

PMID:
23330946
15.

DNA helicases associated with genetic instability, cancer, and aging.

Suhasini AN, Brosh RM Jr.

Adv Exp Med Biol. 2013;767:123-44. doi: 10.1007/978-1-4614-5037-5_6.

16.

Osteosarcoma following growth hormone therapy in recurrent acute lymphoblastic leukemia and Rapadilino syndrome.

Sandoval C, Dunbar J, Ozkaynak M, Jayabose S.

Pediatr Hematol Oncol. 2012 Apr;29(3):270-1. doi: 10.3109/08880018.2012.668748. No abstract available.

PMID:
22475304
17.

Genetic skin diseases predisposing to basal cell carcinoma.

Castori M, Morrone A, Kanitakis J, Grammatico P.

Eur J Dermatol. 2012 May-Jun;22(3):299-309. doi: 10.1684/ejd.2011.1633. Review.

PMID:
22391625
18.

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. doi: 10.1111/j.1600-0609.2011.01609.x.

PMID:
21418107
19.

[Hereditary bone tumors].

Jundt G, Baumhoer D.

Pathologe. 2010 Oct;31(6):471-6. doi: 10.1007/s00292-010-1364-4. German.

PMID:
20960198
20.

Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

Monnat RJ Jr.

Semin Cancer Biol. 2010 Oct;20(5):329-39. doi: 10.1016/j.semcancer.2010.10.002. Epub 2010 Oct 8. Review.

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