LISA WANG to Rothmund-Thomson Syndrome
This is a "connection" page, showing publications LISA WANG has written about Rothmund-Thomson Syndrome.
Connection Strength
5.456
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Cancer risk among RECQL4 heterozygotes. Cancer Genet. 2022 04; 262-263:107-110.
Score: 0.718
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Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Hum Mol Genet. 2017 08 15; 26(16):3046-3055.
Score: 0.526
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Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. Ageing Res Rev. 2017 Jan; 33:30-35.
Score: 0.484
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RECQ DNA helicases and osteosarcoma. Adv Exp Med Biol. 2014; 804:129-45.
Score: 0.409
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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: 0.332
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Metatarsal osteosarcoma in Rothmund-Thomson syndrome: a case report. J Bone Joint Surg Am. 2010 Mar; 92(3):726-30.
Score: 0.314
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Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol. 2008 Aug; 191(2):W62-6.
Score: 0.281
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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: 0.278
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Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. J Clin Oncol. 2007 Feb 01; 25(4):370-5.
Score: 0.253
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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: 0.196
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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: 0.195
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. J Med Genet. 2023 Nov; 60(11):1127-1132.
Score: 0.195
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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet Med. 2023 07; 25(7):100836.
Score: 0.194
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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: 0.183
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Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome. PLoS Genet. 2021 12; 17(12):e1009971.
Score: 0.178
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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: 0.173
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RECQ DNA Helicases and Osteosarcoma. Adv Exp Med Biol. 2020; 1258:37-54.
Score: 0.155
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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: 0.150
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RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. J Bone Miner Res. 2015 Jun; 30(6):1077-89.
Score: 0.113
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The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009 Feb; 17(2):151-8.
Score: 0.071
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Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. Clin Genet. 2006 Apr; 69(4):337-43.
Score: 0.060