PMC Links for Books (Select 1495436) - PMC

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 37229546.

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 35006287.

RAPADILINO RECQL4 Mutant Protein Lacks Helicase and ATPase Activity

Deborah L. Croteau, Marie L. Rossi, Jennifer Ross, Lale Dawut, Christopher Dunn, Tomasz Kulikowicz, Vilhelm A. Bohr

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Biochim Biophys Acta. 2012 Nov; 1822(11): 1727–1734. Published online 2012 Jul 31. doi: 10.1016/j.bbadis.2012.07.014

PMCID:: PMC3500628

Article PDF–928K

Select item 32490708.

RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance

Avik K. Ghosh, Marie L. Rossi, Dharmendra Kumar Singh, Christopher Dunn, Mahesh Ramamoorthy, Deborah L. Croteau, Yie Liu, Vilhelm A. Bohr

J Biol Chem. 2012 Jan 2; 287(1): 196–209. Published online 2011 Oct 28. doi: 10.1074/jbc.M111.295063

PMCID:: PMC3249070

Article PDF–3.4M

Select item 29860539.

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

PMCID:: PMC2986053

Article PDF–142K

Select item 283249110.

Human RECQ1 and RECQ4 Helicases Play Distinct Roles in DNA Replication Initiation

Saravanabhavan Thangavel, Ramiro Mendoza-Maldonado, Erika Tissino, Julia M. Sidorova, Jinhu Yin, Weidong Wang, Raymond J. Monnat, Jr., Arturo Falaschi, Alessandro Vindigni

Mol Cell Biol. 2010 Mar; 30(6): 1382–1396. Published online 2010 Jan 11. doi: 10.1128/MCB.01290-09

PMCID:: PMC2832491

Article PDF–4.5M

Select item 268033211.

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Jinglan Liu, Zhe Zhang, Masashige Bando, Takehiko Itoh, Matthew A. Deardorff, Dinah Clark, Maninder Kaur, Stephany Tandy, Tatsuro Kondoh, Eric Rappaport, Nancy B. Spinner, Hugo Vega, Laird G. Jackson, Katsuhiko Shirahige, Ian D. Krantz

PLoS Biol. 2009 May; 7(5): e1000119. Published online 2009 May 26. doi: 10.1371/journal.pbio.1000119

PMCID:: PMC2680332

Article PDF–1.2M

Select item 265758012.

Dual DNA unwinding activities of the Rothmund–Thomson syndrome protein, RECQ4

Xiaohua Xu, Yilun Liu

EMBO J. 2009 Mar 4; 28(5): 568–577. Published online 2009 Jan 29. doi: 10.1038/emboj.2009.13

PMCID:: PMC2657580

Article PDF–745K

Select item 256463413.

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

L Van Maldergem, H A Siitonen, N Jalkh, E Chouery, M De Roy, V Delague, M Muenke, E W Jabs, J Cai, L L Wang, S E Plon, C Fourneau, M Kestilä, Y Gillerot, A Mégarbané, A Verloes

J Med Genet. 2006 Feb; 43(2): 148–152. Published online 2005 Jun 17. doi: 10.1136/jmg.2005.031781

PMCID:: PMC2564634

Article PDF–806K

Select item 178534214.

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Eva Klopocki, Harald Schulze, Gabriele Strauß, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luitgard M. Neumann, Rolf Habenicht, Rainer König, Eva Seemanova, André Megarbane, Hans-Hilger Ropers, Reinhard Ullmann, Denise Horn, Stefan Mundlos

Am J Hum Genet. 2007 Feb; 80(2): 232–240. Published online 2006 Dec 21. doi: 10.1086/510919

PMCID:: PMC1785342

Article PDF–1.2M

Select item 122619015.

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

Roberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, John Harper, Atsushi Hatamochi, Saori Hatamochi-Hayashi, Dobrawa Napierala, Pia Hermanns, Sinead Collins, Benjamin B. Roa, Madhuri R. Hedge, Keiko Wakui, Diep Nguyen, David W. Stockton, Brendan Lee

Am J Hum Genet. 2005 Jul; 77(1): 161–168. Published online 2005 May 27. doi: 10.1086/431654