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Items: 11

Select item 67313521.

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

Norbert F. Ajeawung, Thi Tuyet Mai Nguyen, Linchao Lu, Thomas J. Kucharski, Justine Rousseau, Sirinart Molidperee, Joshua Atienza, Isabel Gamache, Weidong Jin, Sharon E. Plon, Brendan H. Lee, Jose G. Teodoro, Lisa L. Wang, Philippe M. Campeau

Am J Hum Genet. 2019 Sep 5; 105(3): 625–630. Published online 2019 Jul 11. doi: 10.1016/j.ajhg.2019.06.011

PMCID:: PMC6731352

Abstract Article PDF–1.0M

Select item 58860792.

Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome

Felicia Cao, Linchao Lu, Steven A. Abrams, Keli M. Hawthorne, Allison Tam, Weidong Jin, Brian Dawson, Roman Shypailo, Hao Liu, Brendan Lee, Sandesh C.S. Nagamani, Lisa L. Wang

Hum Mol Genet. 2017 Aug 15; 26(16): 3046–3055. Published online 2017 May 9. doi: 10.1093/hmg/ddx178

PMCID:: PMC5886079

Abstract Article PDF–296K

Select item 56977843.

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders

Michael F. Walsh, Vivian Y. Chang, Wendy K. Kohlmann, Hamish S. Scott, Christopher Cunniff, Franck Bourdeaut, Jan J. Molenaar, Christopher C. Porter, John T. Sandlund, Sharon E. Plon, Lisa L. Wang, Sharon A. Savage

Clin Cancer Res. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Clin Cancer Res. 2017 Jun 1; 23(11): e23–e31. doi: 10.1158/1078-0432.CCR-17-0465

PMCID:: PMC5697784

Abstract Article PDF–101K

Select item 54293604.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

Select item 49050245.

Roles of DNA helicases in the maintenance of genome integrity

Matthew L Bochman

Mol Cell Oncol. 2014 Jul-Sep; 1(3): e963429. Published online 2014 Oct 29. doi: 10.4161/23723548.2014.963429

PMCID:: PMC4905024

Abstract Article PDF–365K

Select item 45862496.

Human RecQ Helicases in DNA Repair, Recombination, and Replication

Deborah L. Croteau, Venkateswarlu Popuri, Patricia L. Opresko, Vilhelm A. Bohr

Annu Rev Biochem. Author manuscript; available in PMC 2015 Sep 29.

Published in final edited form as: Annu Rev Biochem. 2014; 83: 519–552. Published online 2014 Mar 3. doi: 10.1146/annurev-biochem-060713-035428

PMCID:: PMC4586249

Abstract Article PDF–1.5M

Select item 40478747.

Senescence induced by RECQL4 dysfunction contributes to Rothmund–Thomson syndrome features in mice

H Lu, E F Fang, P Sykora, T Kulikowicz, Y Zhang, K G Becker, D L Croteau, V A Bohr

Cell Death Dis. 2014 May; 5(5): e1226. Published online 2014 May 15. doi: 10.1038/cddis.2014.168

PMCID:: PMC4047874

Abstract Article PDF–4.0M

Select item 37229548.

Clinical utility gene card for: Rothmund–Thomson syndrome

Lidia Larizza, Gaia Roversi, Alain Verloes

Eur J Hum Genet. 2013 Jul; 21(7) Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.260

PMCID:: PMC3722954

Article PDF–197K

Select item 30099529.

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt, Isabelle Meyts

Orphanet J Rare Dis. 2010; 5: 37. Published online 2010 Dec 8. doi: 10.1186/1750-1172-5-37

PMCID:: PMC3009952

Abstract Article PDF–479K

Select item 298605310.

The mutation spectrum in RECQL4 diseases

H Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, Abdelmadjid Benmansour, Yline Capri, Valerie Cormier-Daire, Barbara Crandall, Katariina Hannula-Jouppi, Raoul Hennekam, Denise Herzog, Kathelijn Keymolen, Marita Lipsanen-Nyman, Peter Miny, Sharon E Plon, Stefan Riedl, Ajoy Sarkar, Fernando R Vargas, Alain Verloes, Lisa L Wang, Helena Kääriäinen, Marjo Kestilä

Eur J Hum Genet. 2009 Feb; 17(2): 151–158. Published online 2008 Aug 20. doi: 10.1038/ejhg.2008.154