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Items: 1 to 20 of 112

1.

The mutation spectrum in RECQL4 diseases.

Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M.

Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20.

2.

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.

Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26.

PMID:
24635570
3.

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 7;95(9):669-74.

PMID:
12734318
4.

Rothmund-Thomson syndrome.

Larizza L, Roversi G, Volpi L.

Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Review.

5.

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.

Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA.

Biochim Biophys Acta. 2012 Nov;1822(11):1727-34. doi: 10.1016/j.bbadis.2012.07.014. Epub 2012 Jul 31.

6.

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
7.

A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

Debeljak M, Zver A, Jazbec J.

Am J Med Genet A. 2009 Feb 15;149A(4):755-9. doi: 10.1002/ajmg.a.32736.

PMID:
19291770
8.

The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress.

Dietschy T, Shevelev I, Stagljar I.

Cell Mol Life Sci. 2007 Apr;64(7-8):796-802. Review.

PMID:
17364146
9.

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

Sznajer Y, Siitonen HA, Roversi G, Dangoisse C, Scaillon M, Ziereisen F, Tenoutasse S, Kestilä M, Larizza L.

Eur J Pediatr. 2008 Feb;167(2):175-81. Epub 2007 Mar 20.

PMID:
17372760
10.

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A.

J Med Genet. 2006 Feb;43(2):148-52. Epub 2005 Jun 17.

11.

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
12.

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 1;12(21):2837-44. Epub 2003 Sep 2.

PMID:
12952869
13.

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F.

Am J Med Genet A. 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. Review.

PMID:
20503338
14.

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
15.

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Larizza L, Magnani I, Roversi G.

Cancer Lett. 2006 Jan 28;232(1):107-20. Epub 2005 Nov 3. Review.

PMID:
16271439
16.

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 15;654:110-115. doi: 10.1016/j.gene.2018.02.047. Epub 2018 Feb 17.

PMID:
29462647
17.

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Lu L, Jin W, Wang LL.

Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7. Review.

PMID:
27287744
18.

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

Kellermayer R, Siitonen HA, Hadzsiev K, Kestilä M, Kosztolányi G.

Arch Dermatol. 2005 May;141(5):617-20.

PMID:
15897384
19.

Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder.

Fradin M, Merklen-Djafri C, Perrigouard C, Aral B, Muller J, Stoetzel C, Frouin E, Flori E, Doray B, Dollfus H, Lipsker D.

Dermatology. 2013;226(4):353-7. doi: 10.1159/000351311. Epub 2013 Jul 26.

PMID:
23899764
20.

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.

AJR Am J Roentgenol. 2008 Aug;191(2):W62-6. doi: 10.2214/AJR.07.3619.

PMID:
18647888

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