These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 24635570)

  • 1. 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. PubMed ID: 24635570
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 15964893
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 18716613
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A patient with Baller-Gerold syndrome and midline NK/T lymphoma.
    Debeljak M; Zver A; Jazbec J
    Am J Med Genet A; 2009 Feb; 149A(4):755-9. PubMed ID: 19291770
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 413():1-10. PubMed ID: 29080750
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 17364146
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
    Piard J; Holder-Espinasse M; Aral B; Gigot N; Rio M; Tardieu M; Puzenat E; Goldenberg A; Toutain A; Franques J; MacDermot K; Bessis D; Boute O; Callier P; Gueneau L; Huet F; Vabres P; Catteau B; Faivre L; Thauvin-Robinet C
    Eur J Med Genet; 2012 Jan; 55(1):8-11. PubMed ID: 21872685
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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. PubMed ID: 22885111
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.
    Larizza L; Magnani I; Roversi G
    Cancer Lett; 2006 Jan; 232(1):107-20. PubMed ID: 16271439
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 17372760
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report.
    Cao DH; Mu K; Liu DN; Sun JL; Bai XZ; Zhang N; Qiu GB; Ma XW
    Genet Mol Res; 2015 May; 14(2):4757-66. PubMed ID: 25966250
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Human RecQL4 as a Novel Molecular Target for Cancer Therapy.
    Balajee AS
    Cytogenet Genome Res; 2021; 161(6-7):305-327. PubMed ID: 34474412
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. RECQL4 Regulates p53 Function In Vivo During Skeletogenesis.
    Lu L; Harutyunyan K; Jin W; Wu J; Yang T; Chen Y; Joeng KS; Bae Y; Tao J; Dawson BC; Jiang MM; Lee B; Wang LL
    J Bone Miner Res; 2015 Jun; 30(6):1077-89. PubMed ID: 25556649
    [TBL] [Abstract][Full Text] [Related]  

  • 16. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
    Gripp KW; Stolle CA; Celle L; McDonald-McGinn DM; Whitaker LA; Zackai EH
    Am J Med Genet; 1999 Jan; 82(2):170-6. PubMed ID: 9934984
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 23899764
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. The versatile RECQL4.
    Kellermayer R
    Genet Med; 2006 Apr; 8(4):213-6. PubMed ID: 16617241
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nationwide survey of Baller‑Gerold syndrome in Japanese population.
    Kaneko H; Izumi R; Oda H; Ohara O; Sameshima K; Ohnishi H; Fukao T; Funato M
    Mol Med Rep; 2017 May; 15(5):3222-3224. PubMed ID: 28358413
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.