HuGE Literature Finder
Records 1-13
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Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.
JAMA network open 2020 Jan 3 (1): e1920415. Yehia Lamis, Seyfi Marilyn, Niestroj Lisa-Marie, Padmanabhan Roshan, Ni Ying, Frazier Thomas W, Lal Dennis, Eng Char |
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Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
American journal of medical genetics. Part A 2019 May . Golas Monika M, Auber Bernd, Ripperger Tim, Pabst Brigitte, Schmidt Gunnar, Morlot Michel, Diebold Uta, Steinemann Doris, Schlegelberger Brigitte, Morlot Susan |
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Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
The Journal of allergy and clinical immunology 2016 Jun . Chen Hannah H, Händel Norman, Ngeow Joanne, Muller James, Hühn Michael, Yang Huei-Ting, Heindl Mario, Berbers Roos-Marijn, Hegazy Ahmed N, Kionke Janina, Yehia Lamis, Sack Ulrich, Bläser Frank, Rensing-Ehl Anne, Reifenberger Julia, Keith Julia, Travis Simon, Merkenschlager Andreas, Kiess Wieland, Wittekind Christian, Walker Lisa, Ehl Stephan, Aretz Stefan, Dustin Michael L, Eng Charis, Powrie Fiona, Uhlig Holm |
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Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome.
Methods in molecular biology (Clifton, N.J.) 2016 1388 63-73. Ngeow Joanne, Eng Char |
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Breast cancer risk and clinical implications for germline PTEN mutation carriers.
Breast cancer research and treatment 2015 Dec . Ngeow Joanne, Sesock Kaitlin, Eng Char |
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Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
Familial cancer 2014 Mar 13 (1): 57-63. Nieuwenhuis Marry H, Kets C Marleen, Murphy-Ryan Maureen, Yntema Helger G, Evans D Gareth, Colas Chrystelle, Møller Pal, Hes Frederik J, Hodgson Shirley V, Olderode-Berends Maran J W, Aretz Stefan, Heinimann Karl, Gómez García Encarna B, Douglas Fiona, Spigelman Allan, Timshel Susanne, Lindor Noralane M, Vasen Hans F |
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Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
BMC cancer 2014 14 661. Forte Giovanna, Grossi Valentina, Celestini Valentina, Lucisano Giuseppe, Scardapane Marco, Varvara Dora, Patruno Margherita, Bagnulo Rosanna, Loconte Daria, Giunti Laura, Petracca Antonio, Giglio Sabrina, Genuardi Maurizio, Pellegrini Fabio, Resta Nicoletta, Simone Cristia |
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PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?
The oncologist 2013 18 (10): 1083-90. Mester Jessica L, Moore Rebekah A, Eng Char |
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Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes.
American journal of human genetics 2012 Dec . Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C |
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Lifetime cancer risks in individuals with germline PTEN mutations.
Clinical cancer research : an official journal of the American Association for Cancer Research 2012 Jan 18 (2): 400-7. Tan Min-Han, Mester Jessica L, Ngeow Joanne, Rybicki Lisa A, Orloff Mohammed S, Eng Char |
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Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
Clinical genetics 2009 Feb 75 (2): 195-8. Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino |
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Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
Journal of medical genetics 2005 Apr 42 (4): 318-21. Butler M G, Dasouki M J, Zhou X-P, Talebizadeh Z, Brown M, Takahashi T N, Miles J H, Wang C H, Stratton R, Pilarski R, Eng |
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A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.
The Journal of molecular diagnostics : JMD 2002 May 4 (2): 114-7. Zhou Xiao-Ping, Hampel Heather, Roggenbuck Jennifer, Saba Nabil, Prior Thomas W, Eng Char |
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- Page last updated:Mar 05, 2021
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