Search Results - "Marfan, Helen"

Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes by Al-Shinnag, Mohammad, Marfan, Helen, Susman, Rachel, Wakeling, Jan, Gustafson, Sonja, Wood, Simon, Mallett, Andrew John

“…We aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD)…”
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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers by Joo, Jihoon E, Mahmood, Khalid, Walker, Romy, Georgeson, Peter, Candiloro, Ida, Clendenning, Mark, Como, Julia, Joseland, Sharelle, Preston, Susan, Graversen, Lise, Wilding, Mathilda, Field, Michael, Lemon, Michelle, Wakeling, Janette, Marfan, Helen, Susman, Rachel, Isbister, Joanne, Edwards, Emma, Bowman, Michelle, Kirk, Judy, Ip, Emilia, McKay, Lynne, Antill, Yoland, Hopper, John L, Boussioutas, Alex, Macrae, Finlay A, Dobrovic, Alexander, Jenkins, Mark A, Rosty, Christophe, Winship, Ingrid M, Buchanan, Daniel D

“…MLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC). Tumour molecular…”
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Bayesian approach to determining penetrance of pathogenic SDH variants by Benn, Diana E, Zhu, Ying, Andrews, Katrina A, Wilding, Mathilda, Duncan, Emma L, Dwight, Trisha, Tothill, Richard W, Burgess, John, Crook, Ashley, Gill, Anthony J, Hicks, Rodney J, Kim, Edward, Luxford, Catherine, Marfan, Helen, Richardson, Anne Louise, Robinson, Bruce, Schlosberg, Arran, Susman, Rachel, Tacon, Lyndal, Trainer, Alison, Tucker, Katherine, Maher, Eamonn R, Field, Michael, Clifton-Bligh, Roderick J

“…Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach…”
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