Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 58 Records) |
Query Trace: SDHA[original query] |
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Bayesian approach to determining penetrance of pathogenic SDH variants. Journal of medical genetics 2018 Sep . Benn Diana E, Zhu Ying, Andrews Katrina A, Wilding Mathilda, Duncan Emma L, Dwight Trisha, Tothill Richard W, Burgess John, Crook Ashley, Gill Anthony J, Hicks Rodney J, Kim Edward, Luxford Catherine, Marfan Helen, Richardson Anne Louise, Robinson Bruce, Schlosberg Arran, Susman Rachel, Tacon Lyndal, Trainer Alison, Tucker Katherine, Maher Eamonn R, Field Michael, Clifton-Bligh Roderick |
Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1? expression in parasympathetic versus sympathetic paragangliomas. Head & neck 2019 Jan 41 (1): 79-91. Bernardo-Castiñeira Cristóbal, Sáenz-de-Santa-María Inés, Valdés Nuria, Astudillo Aurora, Balbín Milagros, Pitiot Ana S, Jiménez-Fonseca Paula, Scola Bartolomé, Tena Isabel, Molina-Garrido María-José, Sevilla María-Agustina, Beristein Elena, Forga Lluís, Villabona Carles, Oriola Josep, Halperin Irene, Suarez Carlos, Chiara María-Dolor |
Identification of potential biomarkers related to glioma survival by gene expression profile analysis. BMC medical genomics 2019 Mar 11 (Suppl 7): 34. Hsu Justin Bo-Kai, Chang Tzu-Hao, Lee Gilbert Aaron, Lee Tzong-Yi, Chen Cheng- |
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma. Oncotarget 2019 11 10 (57): 5919-5931. Albattal Shatha, Alswailem Meshael, Moria Yosra, Al-Hindi Hindi, Dasouki Majed, Abouelhoda Mohamed, Alkhail Hala Aba, Alsuhaibani Entissar, Alzahrani Ali |
The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review. OncoTargets and therapy 2019 10 12 7929-7940. Aghamir Seyed Mohammad Kazem, Heshmat Ramin, Ebrahimi Mehdi, Ketabchi Seyed Ebrahim, Parichehreh Dizaji Somayeh, Khatami Fatem |
Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis. Journal of medical genetics 2019 10 57 (4): 217-225. Lee Hansong, Jeong Seongdo, Yu Yeuni, Kang Junho, Sun Hokeun, Rhee Je-Keun, Kim Yun H |
Genetic alterations in cell cycle regulation-associated genes may promote primary progression of gastrointestinal stromal tumors. Laboratory investigation; a journal of technical methods and pathology 2019 10 100 (3): 426-437. Li Peifeng, Li Mingyang, Wang Kaijing, Liu Yixiong, Wang Yingmei, Zhao Danhui, Chai Jia, Ma Jing, Li Xia, Wei Jie, Fan Linni, Zhang Feng, Ye Jing, Yan Qingguo, Guo Shuangping, Wang Z |
Positive Immunostaining for Succinate Dehydrogenase B (SDHB) in Paraganglioma Associated with Germline Mutation of SDHB, L157X and P236S. The Tokai journal of experimental and clinical medicine 2020 9 45 (3): 148-151. Sato Haruhiro, Inomoto Ch |
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas. International journal of molecular sciences 2020 9 21 (18): . Snezhkina Anastasiya V, Kalinin Dmitry V, Pavlov Vladislav S, Lukyanova Elena N, Golovyuk Alexander L, Fedorova Maria S, Pudova Elena A, Savvateeva Maria V, Stepanov Oleg A, Poloznikov Andrey A, Demidova Tatiana B, Melnikova Nataliya V, Dmitriev Alexey A, Krasnov George S, Kudryavtseva Anna |
Role of [68Ga]DOTANOC PET/computed tomography and [131I]MIBG scintigraphy in the management of patients with pheochromocytoma and paraganglioma: a prospective study. Nuclear medicine communications 2020 8 41 (10): 1047-1059. Singh Deepa, Shukla Jaya, Walia Rama, Vatsa Rakhee, Paul Nandini, Chhabra Anupriya, Nahar Uma, Singh Harmandeep, Kumar Rajender, Bhansali Anil, Rai Mittal Bhagwa |
Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes. Endocrine connections 2020 7 9 (8): 793-803. Main Ailsa Maria, Rossing Maria, Borgwardt Line, Grønkær Toft Birgitte, Rasmussen Åse Krogh, Feldt-Rasmussen Ul |
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study. Frontiers in endocrinology 2020 12 11 574662. Ma Xiaosen, Li Ming, Tong Anli, Wang Fen, Cui Yunying, Zhang Xuebin, Zhang Yushi, Chen Shi, Li Yux |
Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time. Clinical endocrinology 2021 Nov . Parisien-La Salle Stéfanie, Dumas Nadine, Bédard Karine, Jolin Judith, Moramarco Jessica, Lacroix André, Lévesque Isabelle, Burnichon Nelly, Gimenez-Roqueplo Anne-Paule, Bourdeau Isabel |
Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma. Endocrinology and metabolism (Seoul, Korea) 2020 Dec 35 (4): 909-917. Seo Soo Hyun, Kim Jung Hee, Kim Man Jin, Cho Sung Im, Kim Su Jin, Kang Hyein, Shin Chan Soo, Park Sung Sup, Lee Kyu Eun, Seong Moon-W |
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas. Frontiers in genetics 2020 11 614908. Snezhkina Anastasiya V, Fedorova Maria S, Pavlov Vladislav S, Kalinin Dmitry V, Golovyuk Alexander L, Pudova Elena A, Guvatova Zulfiya G, Melnikova Nataliya V, Dmitriev Alexey A, Razmakhaev George S, Poloznikov Andrey A, Alekseeva Galina S, Kaprin Andrey D, Krasnov George S, Kudryavtseva Anna |
Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention. Pediatric reports 2021 1 13 (1): 45-56. Pelizzo Gloria, Chiricosta Luigi, Mazzon Emanuela, Zuccotti Gian Vincenzo, Avanzini Maria Antonietta, Croce Stefania, Lima Mario, Bramanti Placido, Calcaterra Valer |
Colorectal paragangliomas with immunohistochemical deficiency of succinate dehydrogenase subunit B. Endocrine journal 2021 Dec . Kimura Noriko, Ishikawa Misawo, Shigematsu Kazu |
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia. Medicina (Kaunas, Lithuania) 2022 Aug 58 (8): . Provenzano Aldesia, Chetta Massimiliano, De Filpo Giuseppina, Cantini Giulia, La Barbera Andrea, Nesi Gabriella, Santi Raffaella, Martinelli Serena, Rapizzi Elena, Luconi Michaela, Maggi Mario, Mannelli Massimo, Ercolino Tonino, Canu Letiz |
Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas. The Journal of clinical endocrinology and metabolism 2022 Aug . Lamy Constance, Tissot Hubert, Faron Matthieu, Baudin Eric, Lamartina Livia, Pradon Caroline, Al Ghuzlan Abir, Leboulleux Sophie, Perfettini Jean-Luc, Paci Angelo, Hadoux Julien, Broutin Soph |
Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report. Frontiers in oncology 2022 7 12 925582. Tung Moon Ley, Chandra Bharatendu, Dillahunt Kyle, Gosse Matthew D, Sato T Shawn, Sidhu Al |
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing. Frontiers in endocrinology 2022 5 13 853171. Park Hye-Sun, Lee Yeon Hee, Hong Namki, Won Dongju, Rhee Yum |
Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas. European urology focus 2022 3 8 (5): 1278-1288. Yoo Angela, Tang Cerise, Zucker Mark, Fitzgerald Kelly, DiNatale Renzo G, Rappold Phillip M, Weiss Kate, Freeman Benjamin, Lee Chung-Han, Schultz Nikolaus, Motzer Robert, Russo Paul, Coleman Jonathan, Reuter Victor E, Chen Ying-Bei, Carlo Maria I, Gill Anthony J, Kotecha Ritesh R, Ari Hakimi A, Reznik |
Genotype-Phenotype Correlations and Clinical Outcomes in 155 Cases of Pheochromocytoma and Paraganglioma. World journal of surgery 2022 12 47 (3): 690-698. Wang Hogan, Papachristos Alexander J, Gill Anthony J, Clifton-Bligh Roderick, Aniss Ahmad M, Glover Anthony, Sywak Mark, Sidhu Stan |
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor. Frontiers in oncology 2022 1 11 778461. Pantaleo Maria A, Urbini Milena, Schipani Angela, Nannini Margherita, Indio Valentina, De Leo Antonio, Vincenzi Bruno, Brunello Antonella, Grignani Giovanni, Casagrande Mariaelena, Fumagalli Elena, Conca Elena, Saponara Maristella, Gruppioni Elisa, Altimari Annalisa, De Biase Dario, Tallini Giovanni, Ravegnini Gloria, Turchetti Daniela, Seri Marco, Ardizzoni Andrea, Secchiero Paola, Astolfi Annali |
Genotype-phenotype associations in paragangliomas of the temporal bone in a multi-ethnic cohort. Acta oto-laryngologica 2023 6 1-7. Simon I Angeli, Juan A Chiossone K, Stefania Goncalves, Fred F Telisc |
New pathogenic germline variants identified in mesothelioma. Lung cancer (Amsterdam, Netherlands) 2023 3 179 107172. Belcaid Laila, Bertelsen Birgitte, Wadt Karin, Tuxen Ida, Spanggaard Iben, Højgaard Martin, Benn Sørensen Jens, Ravn Jesper, Lassen Ulrik, Cilius Nielsen Finn, Rohrberg Kristoffer, Westmose Yde Christi |
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma. medRxiv : the preprint server for health sciences 2023 1 . Han Seunghun, Camp Sabrina Y, Chu Hoyin, Collins Ryan, Gillani Riaz, Park Jihye, Bakouny Ziad, Ricker Cora A, Reardon Brendan, Moore Nicholas, Kofman Eric, Labaki Chris, Braun David, Choueiri Toni K, AlDubayan Saud H, Van Allen Eliezer |
Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations. NPJ precision oncology 2023 1 7 (1): 1. Mandelker Diana, Marra Antonio, Mehta Nikita, Selenica Pier, Yelskaya Zarina, Yang Ciyu, Somar Joshua, Mehine Miika, Misyura Maksym, Basturk Olca, Latham Alicia, Carlo Maria, Walsh Michael, Stadler Zsofia K, Offit Kenneth, Bandlamudi Chaitanya, Hameed Meera, Chi Ping, Reis-Filho Jorge S, Ceyhan-Birsoy Oz |
Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors. Cancer science 2024 1 . Toshirou Nishida, Yoichi Naito, Tsuyoshi Takahashi, Takuro Saito, Shigeo Hisamori, Dai Manaka, Katsuhiro Ogawa, Seiichi Hirota, Hitoshi Ichika |
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- Page last updated:Apr 22, 2024
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