Search Results - "Germline"

Self-reported awareness of genetic testing, the impact of family history, and access to clinical trials for people diagnosed with ovarian cancer in Australia by Deborah Roczo, Vanessa Alford, Alison Trainer, Anna DeFazio, Amy Pearn, Caitlin Delaney, Megan Cotter, Sue Hegarty

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Human-likeness of antibody biologics determined by back-translation and comparison with large antibody variable gene repertoires by Samuel Schmitz, Cinque Soto, James E. Crowe, Jens Meiler

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A novel somatic BRCA2 point mutation in a metastatic pancreatic cancer patient: a case report by Deqiang Wang, Ruting Guan, Qing Tao, Sisi Liu, Man Yu, Xiaoqin Li

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A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia by Wen-Tao He, Xiong Wang, Wen Song, Xiao-Dong Song, Yan-Jun Lu, Yan-Kai Lv, Ting He, Xue-Feng Yu, Shu-Hong Hu

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First case of endometrial cancer after yolk sac tumor in a patient with Li-Fraumeni syndrome by Qiu-Lin Ye, Yue Qi, Juan-Juan Liu, Yue-Xin Hu, Yuan Lv, Bei Lin

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Mutation rates for 20 STR loci in a population from São Paulo state, Southeast, Brazil by Juliana Martinez, Danilo Faustino Braganholi, Isabela Brunelli Ambrósio, Fernanda Silva Polverari, Regina Maria Barretto Cicarelli

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Identification of identical BAP1 mutations in a patient's peritoneal mesothelioma and mucosal melanoma: A precision medicine case study by Paul Zamiara, Ibrahim Elsharawi, Daniel Gaston, Ryan C. DeCoste, Eoghan Malone, Martin J. Bullock, Mathieu C. Castonguay, Michael D. Carter

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A Pyloric Gland-Phenotype Ovarian Mucinous Tumor Resembling Lobular Endocervical Glandular Hyperplasia in a Patient with Peutz-Jeghers Syndrome by Eun Na Kim, Gu-Hwan Kim, Jiyoon Kim, In Ah Park, Jin Ho Shin, Yun Chai, Kyu-Rae Kim

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A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report by Dun Yang, Jiaoyun Zheng, Fei Tang, Qiongzhi He, Hui Huang, Peng Zhou

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The 2017 Keystone Symposium on HIV Vaccines by Christopher A. Cottrell, Andrew B. Ward

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Tissue and stage-specific distribution of Wolbachia in Brugia malayi. by Kerstin Fischer, Wandy L Beatty, Daojun Jiang, Gary J Weil, Peter U Fischer

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HNPCC: Six new pathogenic mutations by Epplen Joerg T, Hahn Stephan A, Brasch Frank E, Vieland Judith, Kunstmann Erdmute, Schulmann Karsten, Schmiegel Wolff

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DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1‐associated sarcoma by Maria Apellaniz‐Ruiz, Noelle Cullinan, Ronald Grant, Paula Marrano, John R Priest, Paul S Thorner, Catherine Goudie, William D Foulkes

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Prior authorization for FDA-approved PARP inhibitors in ovarian cancer by Anna Jo Bodurtha Smith, Annie Apple, Audra Hugo, Ashley Haggerty, Emily M. Ko

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Systematic analysis of the intersection of disease mutations with protein modifications by Claire M. Simpson, Bin Zhang, Peter V. Hornbeck, Florian Gnad

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An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels by Yiguo Sun, Xiaoling Tong, Honghong Chen, Tao Huang, Qing Shao, Weixiong Huang, Dale W. Laird, Donglin Bai

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Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes by Carlos G. Urzúa-Traslaviña, Tijs van Lieshout, Floranne Boulogne, Kevin Domanegg, Mahmoud Zidan, Olivier B. Bakker, Annique Claringbould, Jeroen de Ridder, Wilbert Zwart, Harm-Jan Westra, Patrick Deelen, Lude Franke

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Matrix Metalloproteinase-9 (<it>MMP-9</it>) polymorphisms in patients with cutaneous malignant melanoma by Busam Klaus, Coit Daniel, Vanderbeek Gretchen, Shah Shivang, Patel Ami, Chuai Shaokun, Ishill Nicole, Mitra Nandita, Reva Boris, Cotignola Javier, Halpern Allan, Houghton Alan, Sander Chris, Berwick Marianne, Orlow Irene

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Low penetrance of a <it>SDHB </it>mutation in a large Dutch paraganglioma family by Jansen Jeroen C, Romijn Johannes A, Morreau Hans, Stokkel Marcel PM, Bonsing Bert A, van Bunderen Patrick A, de Miranda Noel F, Woortman Sanne A, Weiss Marjan M, Hes Frederik J, Vriends Annette HJT, Bayley Jean-Pierre L, Corssmit Eleonora PM

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Congenital presentation of synchronous Atypical Teratoid Rhabdoid Tumor and Malignant Rhabdoid Tumor of the urinary bladder in a term infant by Vivian Tang, Peter Michael Conner, Jason Paul Tovar, Regina Frances Gandour-Edwards, Reuben Antony, Matthew Bobinsk, Michael Steven Brent Edwards, Mirna Lechpamme

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