Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 43 Records) |
Query Trace: Syndrome and FH[original query] |
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Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. Journal of the American College of Cardiology 2017 Oct 70 (14): 1732-1740. Amor-Salamanca Almudena, Castillo Sergio, Gonzalez-Vioque Emiliano, Dominguez Fernando, Quintana Lucía, Lluís-Ganella Carla, Escudier Juan Manuel, Ortega Javier, Lara-Pezzi Enrique, Alonso-Pulpon Luis, Garcia-Pavia Pab |
Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome. Journal of the American Society of Nephrology : JASN 2017 10 29 (1): 240-249. Goicoechea de Jorge Elena, Tortajada Agustín, García Sheila Pinto, Gastoldi Sara, Merinero Héctor Martín, García-Fernández Jesús, Arjona Emilia, Cao Mercedes, Remuzzi Giuseppe, Noris Marina, Rodríguez de Córdoba Santia |
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 |
High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3*B. Frontiers in immunology 2018 9 848. Pouw Richard B, Gómez Delgado Irene, López Lera Alberto, Rodríguez de Córdoba Santiago, Wouters Diana, Kuijpers Taco W, Sánchez-Corral Pil |
Mutations in membrane cofactor protein (CD46) gene in Indian children with hemolytic uremic syndrome. Clinical kidney journal 2018 4 11 (2): 198-203. Khandelwal Priyanka, Birla Shweta, Bhatia Divya, Puraswani Mamta, Saini Himanshi, Sinha Aditi, Hari Pankaj, Sharma Arundhati, Bagga Arvi |
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 |
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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