Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 47 Records) |
| Query Trace: Syndrome and FH[original query] |
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| Chronic pancreatitis changes in high-risk individuals for pancreatic ductal adenocarcinoma. Gastrointestinal endoscopy 2018 8 89 (4): 842-851.e1. Thiruvengadam Sushrut S, Chuang Judith, Huang Robert, Girotra Mohit, Park Walter |
| Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome. Journal of internal medicine 2018 7 284 (6): 674-684. Benedek P, Eriksson M, Duvefelt K, Freyschuss A, Frick M, Lundman P, Nylund L, Szummer |
| Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology : JASN 2018 11 29 (12): 2809-2819. Bu Fengxiao, Zhang Yuzhou, Wang Kai, Borsa Nicolo Ghiringhelli, Jones Michael B, Taylor Amanda O, Takanami Erika, Meyer Nicole C, Frees Kathy, Thomas Christie P, Nester Carla, Smith Richard J |
| Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patients. Histopathology 2019 9 76 (3): 354-365. Liu Chengbao, Dillon Jessica, Beavis Anna L, Liu Yuehua, Lombardo Kara, Fader Amanda N, Hung Chien-Fu, Wu Tzyy-Choou, Vang Russell, Garcia Jairo E, Xing Dey |
| [Genetic variants of familial hematuria associated genes in three families with hematuria with probands initially diagnosed as IgA nephropathy]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Sep 57 (9): 674-679. Liu J W, Wang P, Huang J, Nie X J, Zhao F, Chen L Z, Li Z, Yu Z |
| Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma. Human mutation 2019 8 41 (1): 103-109. Zhang Liying, Walsh Michael F, Jairam Sowmya, Mandelker Diana, Zhong Yi, Kemel Yelena, Chen Ying-Bei, Musheyev David, Zehir Ahmet, Jayakumaran Gowtham, Brzostowski Edyta, Birsoy Ozge, Yang Ciyu, Li Yirong, Somar Joshua, DeLair Deborah, Pradhan Nisha, Berger Michael F, Cadoo Karen, Carlo Maria I, Robson Mark E, Stadler Zsofia K, Iacobuzio-Donahue Christine A, Joseph Vijai, Offit Kenne |
| MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas. Human reproduction open 2018 2018 (4): hoy020. Heikkinen Tuomas, Äyräväinen Anna, Hänninen Janne, Ahvenainen Terhi, Bützow Ralf, Pasanen Annukka, Vahteristo P |
| Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog. Neuroendocrinology 2019 11 110 (7-8): 705-713. Ramos Carolina de Oliveira, Macedo Delanie B, Canton Ana Pinheiro M, Cunha-Silva Marina, Antonini Sonir R R, Stecchini Monica Freire, Seraphim Carlos Eduardo, Rodrigues Tania, Mendonca Berenice Bilharinho, Latronico Ana Claudia, Brito Vinicius Nahi |
| Prevalence Of familial hypercholeSTerolaemia (FH) in Italian Patients with coronary artERy disease: The POSTER study. Atherosclerosis 2020 8 308 32-38. Gulizia Michele Massimo, Maggioni Aldo P, Abrignani Maurizio G, Bilato Claudio, Mangiacapra Fabio, Sanchez Federico Ariel, Piovaccari Giancarlo, Montagna Laura, Marini Marco, De Biasio Marzia, Averna Maurizio, Casula Manuela, Colivicchi Furio, Fabbri Gianna, Lucci Donata, Zampoleri Veronica, Catapano Alberico L, |
| Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 7 33 (11): 2341-2353. Popp Bernt, Erber Ramona, Kraus Cornelia, Vasileiou Georgia, Hoyer Juliane, Burghaus Stefanie, Hartmann Arndt, Beckmann Matthias W, Reis André, Agaimy Abb |
| Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nature medicine 2020 7 26 (8): 1235-1239. Grzymski J J, Elhanan G, Morales Rosado J A, Smith E, Schlauch K A, Read R, Rowan C, Slotnick N, Dabe S, Metcalf W J, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu J |
| Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. Cancer 2020 5 126 (16): 3657-3666. Shuch Brian, Li Shantao, Risch Harvey, Bindra Ranjit S, McGillivray Patrick D, Gerstein Ma |
| Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J. Journal of atherosclerosis and thrombosis 2021 9 29 (8): 1201-1212. Harada-Shiba Mariko, Ako Junya, Hirayama Atsushi, Nakamura Masato, Nohara Atsushi, Sato Kayoko, Murakami Yoshitaka, Koshida Ryusuke, Ozaki Asuka, Arai Hideno |
| Evidence for an Interaction Between NEDD4 and Childhood Trauma on Clinical Characters of Schizophrenia With Family History of Psychosis. Frontiers in psychiatry 2021 4 12 608231. Bi Xiao-Jiao, Hu Lei, Qiao Dong-Dong, Han Chao, Sun Meng-Meng, Cui Kai-Yan, Wang Li-Na, Yang Li-Min, Liu Lan-Fen, Chen Zhe- |
| Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2021 3 27 (10): 2910-2919. Gleeson Jack P, Nikolovski Ines, Dinatale Renzo, Zucker Mark, Knezevic Andrea, Patil Sujata, Ged Yasser, Kotecha Ritesh R, Shapnik Natalie, Murray Samuel, Russo Paul, Coleman Jonathan, Lee Chung Han, Stadler Zsofia K, Hakimi A Ari, Feldman Darren R, Motzer Robert J, Reznik Ed, Voss Martin H, Chen Ying-Bei, Carlo Maria |
| Complement Genetic Variants and FH Desialylation in S. pneumoniae-Haemolytic Uraemic Syndrome. Frontiers in immunology 2021 3 12 641656. Gómez Delgado Irene, Corvillo Fernando, Nozal Pilar, Arjona Emilia, Madrid Álvaro, Melgosa Marta, Bravo Juan, Szilágyi Ágnes, Csuka Dorottya, Veszeli Nóra, Prohászka Zoltán, Sánchez-Corral Pil |
| Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives. Journal of kidney cancer and VHL 2022 9 9 (2): 27-31. Catarina Tavares, Quental Maria Sofia, Brandão José Ricardo, Silva-Ramos Migu |
| A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma. The American journal of surgical pathology 2022 8 47 (1): 25-36. Fuchs Talia L, Luxford Catherine, Clarkson Adele, Sheen Amy, Sioson Loretta, Elston Marianne, Croxson Michael S, Dwight Trisha, Benn Diana E, Tacon Lyndal, Field Michael, Ahadi Mahsa S, Chou Angela, Clifton-Bligh Roderick J, Gill Anthony |
| Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome. Frontiers in cardiovascular medicine 2022 8 9 921803. Wang Cheng, Yu Puliang, Hu Lizhi, Liang Minglu, Mao Yi, Zeng Qiutang, Wang Xiang, Huang Kai, Yan Jin, Xie Li, Zhang Fengxiao, Zhu Fe |
| Family history of menstrual irregularity or diabetes mellitus enhances the susceptibility to polycystic ovary syndrome among subjects harboring rs7903146 genetic variant of TCF7L2. Journal of diabetes and metabolic disorders 2022 Jun 21 (1): 769-776. Rashid Rabiya, Shah Idrees A, Asrar Mir M, Godha Meena, Ganai Bashir A, Ganie Mohd Ashr |
| Clinicopathological and molecular characteristics of fumarate hydratase-deficient uterine smooth muscle tumors: a single-center study of 52 cases. Human pathology 2022 6 126 136-145. Li Hui, Yang Wentao, Tu Xiaoyu, Yu Lin, Huang Dan, Cheng Yufan, Chang Bin, Tang Shaoxian, Ge Huijuan, Bao Longlong, Zhou Xiaoyan, Bi R |
| Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe. Journal of personalized medicine 2022 3 12 (3): . Ma?taleru Alexandra, Cojocariu Sabina Alexandra, Oancea Andra, Constantin Maria Magdalena Leon, Roca Mihai, Zota Ioana M?d?lina, Abdulan Irina, Rusu Cristina, Popescu Roxana, Antoci Lucian Mihai, Ciobanu Cristian Gabriel, Costache Alexandru Dan, Cojocaru Elena, Mitu Flor |
| Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology 2022 2 129 (6): 708-718. Kuht Helen J, Maconachie Gail D E, Han Jinu, Kessel Line, van Genderen Maria M, McLean Rebecca J, Hisaund Michael, Tu Zhanhan, Hertle Richard W, Gronskov Karen, Bai Dayong, Wei Aihua, Li Wei, Jiao Yonghong, Smirnov Vasily, Choi Jae-Hwan, Tobin Martin D, Sheth Viral, Purohit Ravi, Dawar Basu, Girach Ayesha, Strul Sasha, May Laura, Chen Fred K, Heath Jeffery Rachael C, Aamir Abdullah, Sano Ronaldo, Jin Jing, Brooks Brian P, Kohl Susanne, Arveiler Benoit, Montoliu Lluis, Engle Elizabeth C, Proudlock Frank A, Nishad Garima, Pani Prateek, Varma Girish, Gottlob Irene, Thomas Mervyn |
| A Clinicopathological and Molecular Analysis of Fumarate Hydratase (FH)-deficient Renal Cell Carcinomas with Heterogeneous Loss of FH Expression. International journal of surgical pathology 2022 1 30 (6): 606-615. Anderson William J, Tsai Harrison K, Sholl Lynette M, Hirsch Michelle |
| Genomic profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
| Clinical and molecular risk factors for repeat interventions due to symptomatic uterine leiomyomas. American journal of obstetrics and gynecology 2024 8 . Sara Khamaiseh, Anna Äyräväinen, Maare Arffman, Siiri Reinikka, Miika Mehine, Päivi Härkki, Ralf Bützow, Annukka Pasanen, Pia Vahteris |
| Performance evaluation of predictive models for detecting MMR gene mutations associated with Lynch syndrome in cancer patients in a Chinese cohort in Taiwan. International journal of cancer 2024 7 . Fei-Hung Hung, Hung-Pin Peng, Chen-Fang Hung, Ling-Ling Hsieh, An-Suei Yang, Yong Alison Wa |
| Prognostic value of germline mutations in metastatic hormone-sensitive prostate cancer (mHSPC). Urologic oncology 2024 6 . Sara Custodio-Cabello, Vilma Pacheco-Barcia, Magda Palka-Kotlowska, Laura Fernández-Hernández, Julio Fernández Del Álamo, Eduardo Oliveros-Acebes, Luis Cabezón-Gutiérr |
| Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients. JACC. Clinical electrophysiology 2024 10 . Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwar |
| Anti-factor B antibodies in atypical hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2024 1 . Priyanka Khandelwal, Shreesha Nambiar, Rahul Saini, Savita Saini, Poonam Coshic, Aditi Sinha, Pankaj Hari, Jayanth Kumar Palanichamy, Arvind Bag |
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