Concepedia

The mutation spectrum in RECQL4 diseases

H. Annika Siitonen, Jenni Sotkasiira, Martine Biervliet, Abdelmadjid Benmansour, Yline Capri, Valérie Cormier‐Daire, Barbara F. Crandall, Katariina Hannula‐Jouppi, Raoul C. M. Hennekam, Denise Herzog,

European Journal of Human Genetics · 2008 · 233 citations · 34 references

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References

34

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

Saori Kitao, Akira Shimamoto, Makoto Goto et al. · Nature Genetics · 1999 · 673 citations

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Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

Liangliang Wang, Anu Gannavarapu, Claudia A. Kozinetz et al. · JNCI Journal of the National Cancer Institute · 2003 · 341 citations · Full text

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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Lisa L. Wang, Moise L. Levy, Richard A. Lewis et al. · American Journal of Medical Genetics · 2001 · 321 citations

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Initiation of DNA Replication Requires the RECQL4 Protein Mutated in Rothmund-Thomson Syndrome

Mahesh Sangrithi, Juan A. Bernal, Mark A. Madine et al. · Cell · 2005 · 289 citations · Full text

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Cloning of Two New Human Helicase Genes of the RecQ Family: Biological Significance of Multiple Species in Higher Eukaryotes

Saori Kitao, Itaru Ohsugi, K. Ichikawa et al. · Genomics · 1998 · 249 citations

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