Plon SE - Search Results

1

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.

Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL. Jin W, et al. Among authors: plon se. Hum Genet. 2008 Jul;123(6):643-53. doi: 10.1007/s00439-008-0518-4. Epub 2008 May 27. Hum Genet. 2008. PMID: 18504617 Free PMC article.

2

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

Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. Wang LL, et al. Among authors: plon se. Am J Med Genet. 2001 Jul 22;102(1):11-7. doi: 10.1002/1096-8628(20010722)102:1<11::aid-ajmg1413>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11471165

3

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome.

Wang LL, Worley K, Gannavarapu A, Chintagumpala MM, Levy ML, Plon SE. Wang LL, et al. Among authors: plon se. Am J Hum Genet. 2002 Jul;71(1):165-7. doi: 10.1086/341234. Epub 2002 May 9. Am J Hum Genet. 2002. PMID: 12016592 Free PMC article.

4

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.

Wang LL, Gannavarapu A, Clericuzio CL, Erickson RP, Irvine AD, Plon SE. Wang LL, et al. Among authors: plon se. Am J Med Genet A. 2003 Apr 30;118A(3):299-301. doi: 10.1002/ajmg.a.10057. Am J Med Genet A. 2003. PMID: 12673665 No abstract available.

5

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. Wang LL, et al. Among authors: plon se. J Natl Cancer Inst. 2003 May 7;95(9):669-74. doi: 10.1093/jnci/95.9.669. J Natl Cancer Inst. 2003. PMID: 12734318

6

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. Van Maldergem L, et al. Among authors: plon se. J Med Genet. 2006 Feb;43(2):148-52. doi: 10.1136/jmg.2005.031781. Epub 2005 Jun 17. J Med Genet. 2006. PMID: 15964893 Free PMC article.

7

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. Siitonen HA, et al. Among authors: plon se. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.

8

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL. Clericuzio C, et al. Among authors: plon se. Am J Med Genet A. 2011 Feb;155A(2):337-42. doi: 10.1002/ajmg.a.33807. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271650 Free PMC article.

9

Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Erez A, et al. Among authors: plon se. Am J Hum Genet. 2011 Apr 8;88(4):402-21. doi: 10.1016/j.ajhg.2011.03.005. Am J Hum Genet. 2011. PMID: 21473982 Free PMC article. Review.

10

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA. Walsh MF, et al. Among authors: plon se. Clin Cancer Res. 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. Clin Cancer Res. 2017. PMID: 28572264 Free PMC article. Review.

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