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International Journal of Cancer|June 22, 2007
Lymphocyte radiosensitivity in BRCA1 and BRCA2 mutation carriers and implications for breast cancer susceptibilityJulian Barwell, Laurent Pangon, Anne Georgiou, et al.
Blood|March 15, 2003
Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemiaM William Lensch, Marc Tischkowitz, Tracy A Christianson, et al.
The Journal of Clinical Endocrinology and Metabolism|September 7, 2006
Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutationsPatrick J Pollard, Mona El-Bahrawy, Richard Poulsom, et al.
Blood|November 4, 2004
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from SpainElsa Callén, José A Casado, Marc D Tischkowitz, et al.
Histopathology|February 7, 2017
A distinctive, low-grade oncocytic fumarate hydratase-deficient renal cell carcinoma, morphologically reminiscent of succinate dehydrogenase-deficient renal cell carcinomaSteven C Smith, Deepika Sirohi, Chisato Ohe, et al.
The Journal of Clinical Endocrinology and Metabolism|May 14, 2013
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paragangliomaEleanor Rattenberry, Lindsey Vialard, Anna Yeung, et al.
Familial Cancer|August 13, 2013
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndromeMarry H Nieuwenhuis, C Marleen Kets, Maureen Murphy-Ryan, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2014
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)Angela Rogers, M Andrew Nesbit, Fadil M Hannan, et al.
Familial Cancer|July 10, 2012
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndromeMichael P Farrell, David J Hughes, Ian R Berry, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|August 19, 2015
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 StudyMohammad Movahedi, D Timothy Bishop, Finlay Macrae, et al.
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