SHARON PLON to Rothmund-Thomson Syndrome
This is a "connection" page, showing publications SHARON PLON has written about Rothmund-Thomson Syndrome.
Connection Strength
1.198
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Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 07; 95(9):669-74.
Score: 0.206
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Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A. 2003 Apr 30; 118A(3):299-301.
Score: 0.205
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Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. Am J Hum Genet. 2002 Jul; 71(1):165-7.
Score: 0.192
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Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001 Jul 22; 102(1):11-7.
Score: 0.182
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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Am J Hum Genet. 2019 09 05; 105(3):625-630.
Score: 0.158
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Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A. 2011 Feb; 155A(2):337-42.
Score: 0.087
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The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb; 17(2):151-8.
Score: 0.074
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Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. Hum Genet. 2008 Jul; 123(6):643-53.
Score: 0.073
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The involvement of human RECQL4 in DNA double-strand break repair. Aging Cell. 2010 Jun; 9(3):358-71.
Score: 0.021