Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Counseling and FH[original query] |
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Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia. Applied biochemistry and biotechnology 2015 May 176 (1): 101-9. Fan Liang-liang, Lin Min-jie, Chen Ya-qin, Huang Hao, Peng Dao-quan, Xia Kun, Zhao Shui-ping, Xiang Ro |
Mutation detection in Chinese patients with familial hypercholesterolemia. SpringerPlus 2016 12 5 (1): 2095. Du Ran, Fan Liang-Liang, Lin Min-Jie, He Zhi-Jian, Huang Hao, Chen Ya-Qin, Li Jing-Jing, Xia Kun, Zhao Shui-Ping, Xiang Ro |
Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test. Cancer 2017 Nov 123 (22): 4363-4371. Nguyen Kevin A, Syed Jamil S, Espenschied Carin R, LaDuca Holly, Bhagat Ansh M, Suarez-Sarmiento Alfredo, O'Rourke Timothy K, Brierley Karina L, Hofstatter Erin W, Shuch Bri |
A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia. Advanced biomedical research 2018 3 7 37. Tajamolian Masoud, Kolahdouz Parisa, Nikpour Parvaneh, Forouzannia Seyed Khalil, Sheikhha Mohammad Hasan, Yazd Ehsan Farasha |
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position? European journal of human genetics : EJHG 2018 2 26 (6): 848-857. Teixeira Natalia, van der Hout Annemieke, Oosterwijk Jan C, Vos Janet R, , Devilee Peter, van Engelen Klaartje, Meijers-Heijboer Hanne, van der Luijt Rob B, Kriege Mieke, Mensenkamp Arjen R, Rookus Matti A, van Roozendaal Kees E, Mourits Marian J E, de Bock Geertruida |
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct . Alver Maris, Palover Marili, Saar Aet, Läll Kristi, Zekavat Seyedeh Maryam, Tõnisson Neeme, Leitsalu Liis, Reigo Anu, Nikopensius Tiit, Ainla Tiia, Kals Mart, Mägi Reedik, Gabriel Stacey B, Eha Jaan, Lander Eric S, Irs Alar, Philippakis Anthony, Marandi Toomas, Natarajan Pradeep, Metspalu Andres, Kathiresan Sekar, Esko Tõ |
BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ. Molecular genetics & genomic medicine 2019 Jan . Liu Yan, Ide Yoshimi, Inuzuka Mayuko, Tazawa Sakiko, Kanada Yoko, Matsunaga Yuki, Kuwayama Takashi, Sawada Terumasa, Akashi-Tanaka Sadako, Nakamura Sei |
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia. Journal of atherosclerosis and thrombosis 2020 Aug . Wang Hao, Yang Hang, Liu Zhaohui, Cui Kai, Zhang Yinhui, Zhang Yujing, Zhao Kun, Yin Kunlun, Li Wenke, Zhou Zh |
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 2021 7 5 (2): . Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Li |
Mutational profile of hereditary breast and ovarian cancer - Establishing genetic testing guidelines in a developing country. Current problems in cancer 2021 7 46 (1): 100767. Krivokuca Ana, Mihajlovic Milica, Susnjar Snezana, Spasojevic Ivana Bozovic, Minic Ivana, Popovic Lazar, Brankovic-Magic Mirja |
Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing. Pancreas 2021 5 50 (4): 602-606. Zhu Huili, Welinsky Sara, Soper Emily R, Brown Karen L, Abul-Husn Noura S, Lucas Aimee |
Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing. European urology oncology 2021 10 4 (6): 993-1000. Truong Hong, Sheikh Rania, Kotecha Ritesh, Kemel Yelena, Reisz Peter A, Lenis Andrew T, Mehta Nikita N, Khurram Aliya, Joseph Vijai, Mandelker Diana, Latham Alicia, Ceyhan-Birsoy Ozge, Ladanyi Marc, Shah Neil J, Walsh Michael F, Voss Martin H, Lee Chung-Han, Russo Paul, Coleman Jonathan A, Hakimi A Ari, Feldman Darren R, Stadler Zsofia K, Robson Mark E, Motzer Robert J, Offit Kenneth, Patil Sujata, Carlo Maria |
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer. Oncology letters 2022 3 23 (4): 118. Ozmen Vahit, Caglayan Ahmet Okay, Yararbas Kanay, Ordu Cetin, Aktepe Fatma, Ozmen Tolga, Ilgun Ahmet Serkan, Soybir Gursel, Alco Gul, Tsaousis Georgios N, Papadopoulou Eirini, Agiannitopoulos Konstantinos, Pepe Georgia, Kampouri Stavroula, Nasioulas George, Sezgin Efe, Soran Atil |
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy. Molecular genetics & genomic medicine 2022 10 10 (12): e2071. Negri Serena, De Ponti Elena, Sina Federica Paola, Sala Elena, Dell'Oro Cristina, Roversi Gaia, Lazzarin Sara, Delle Marchette Martina, Inzoli Alesssandra, Toso Claudia, Fumagalli Simona, Campanella Maria, Kotsopoulos Joanne, Fruscio Robe |
Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes. JCO precision oncology 2022 1 5 1568-1578. Kamihara Junne, Horton Carrie, Tian Yuan, Zhou Jing, Richardson Marcy, LaDuca Holly, Rana Huma |
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- Page last updated:Mar 25, 2024
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