Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 131 Records) |
| Query Trace: Paragangliomas 4[original query] |
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| A long noncoding RNA-microRNA expression signature predicts metastatic signature in pheochromocytomas and paragangliomas. Endocrine 2021 9 75 (1): 244-253. Ghosal Suman, Zhu Boqun, Huynh Thanh-Truc, Meuter Leah, Jha Abhishek, Talvacchio Sara, Knue Marianne, Patel Mayank, Prodanov Tamara, Das Shaoli, Zeiger Martha A, Nilubol Naris, Shankavaram Uma T, Taieb David, Pacak Kar |
| LncRNA expression and SDHB mutations in pheochromocytomas and paragangliomas. Annals of diagnostic pathology 2021 8 55 151801. Li Huihua, Hardin Heather, Zaeem Misbah, Huang Wei, Hu Rong, Lloyd Ricardo |
| Re-evaluating the prevalence and factors characteristic of catecholamine secreting head and neck paragangliomas. Endocrinology, diabetes & metabolism 2021 7 4 (3): e00256. Smith Joshua D, Ellsperman Susan E, Basura Gregory J, Else Tobi |
| Assessment of MR Imaging and CT in Differentiating Hereditary and Nonhereditary Paragangliomas. AJNR. American journal of neuroradiology 2021 5 42 (7): 1320-1326. Ota Y, Naganawa S, Kurokawa R, Bapuraj J R, Capizzano A, Kim J, Moritani T, Srinivasan |
| Pseudohypoxic pheochromocytomas and paragangliomas dominate in children. Pediatric blood & cancer 2021 3 68 (7): e28981. Redlich Antje, Pamporaki Christina, Lessel Lienhard, Frühwald Michael C, Vorwerk Peter, Kuhlen Michae |
| Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas. Clinical endocrinology 2021 Mar . Petenuci Janaina, Guimaraes Augusto G, Fagundes Gustavo F C, Benedetti Anna Flavia F, Afonso Ana Caroline F, Pereira Maria Adelaide A, Zerbini Maria Claudia N, Siqueira Sheila, Yamauchi Fernando, Soares Silvia C, Srougi Victor, Tanno Fabio Y, Chambo Jose L, Lopes Roberto I, Denes Francisco T, Hoff Ana O, Latronico Ana Claudia, Mendonca Berenice B, Fragoso Maria Candida B V, Almeida Madson |
| 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 |
| 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 |
| Papillary Thyroid Cancer and a TERT Promotor Mutation-positive Paraganglioma in a Patient With a Germline SDHB Mutation. Journal of the Endocrine Society 2022 6 6 (7): bvac076. Alzahrani Ali S, Alswailem Meshael, Murugan Avaniyapuram Kannan, Alghamdi Balgees, Al-Hindi Hin |
| SDHx mutations and temozolomide in malignant pheochromocytoma and paraganglioma. Endocrine-related cancer 2022 Jun . Perez Kimberly, Jacene Heather, Hornick Jason L, Ma Chao, Vaz Nuno, Brais Lauren K, Alexander Holly, Baddoo William, Astone Kristina, Esplin Edward D, Garcia John, Halperin Daniel M, Kulke Matthew H, Chan Jennifer |
| Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression. Head and neck pathology 2022 May . Pucci Angela, Bacca Alessandra, Barravecchia Ivana, Di Stefano Iosè, Belgio Beatrice, Lorenzini Daniele, Torregrossa Liborio, Chiacchio Serena, Congregati Caterina, Materazzi Gabriele, Ferrari Mauro, Angeloni Debora, Bernini Giampaolo, Basolo Fulv |
| Somatic Mutation Profiling in Head and Neck Paragangliomas. The Journal of clinical endocrinology and metabolism 2022 4 107 (7): 1833-1842. Savvateeva Maria, Kudryavtseva Anna, Lukyanova Elena, Kobelyatskaya Anastasiya, Pavlov Vladislav, Fedorova Maria, Pudova Elena, Guvatova Zulfiya, Kalinin Dmitry, Golovyuk Alexander, Bulavkina Elizaveta, Katunina Irina, Krasnov George, Snezhkina Anastasi |
| Genetic Characteristics of Incidental Pheochromocytoma and Paraganglioma. The Journal of clinical endocrinology and metabolism 2022 Feb . Zhang Jing, Li Minghao, Pang Yingxian, Wang Cikui, Wu Jingjing, Cheng Ziyun, Li Xiaomu, Lu Zhiqiang, Liu Yujun, Guo Jianming, Chen Xiang, He Yao, Guan Xiao, Xu Xiaowen, Wang Yong, Liu Jiahao, Guo Wei, Hou Yingyong, Liu Longfei, Jiang Jingjing, Gao X |
| Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. Journal of medical genetics 2022 11 . Carrasco Estela, López-Fernández Adrià, Codina-Sola Marta, Valenzuela Irene, Cueto-González A M, Villacampa Guillermo, Navarro Victor, Torres-Esquius Sara, Palau Dolors, Cruellas Mara, Torres Maite, Perez-Dueñas Belen, Abulí Anna, Diez Orland, Sábado-Álvarez Constantino, García-Arumí Elena, Tizzano Eduardo F, Moreno Lucas, Balmaña Judi |
| TNM Staging and Overall Survival in Patients with Pheochromocytoma and Sympathetic Paraganglioma. The Journal of clinical endocrinology and metabolism 2022 11 . Jimenez Camilo, Ma Junsheng, Roman Gonzalez Alejandro, Varghese Jeena, Zhang Miao, Perrier Nancy, Habra Mouhammed Amir, Graham Paul, Waguespack Steven |
| Somatic IDH1 hotspot variants in Chinese patients with pheochromocytomas and paragangliomas. The Journal of clinical endocrinology and metabolism 2022 11 . Li Minghao, He Yazhi, Pang Yingxian, Zhang Jing, Feng Yu, He Yao, Xu Xiaowen, Wei Yongbao, Zhong Dewen, Deng Wanglong, Wang Long, Yan Bin, Jiang Yazhuo, Xu Ning, Cai Hai, Wen Yanlin, Ning Jinzhuo, Liu Yujun, Gao Xin, Shan Zhongyan, Liu Longfei, Teng Xiaochun, Richter Susan, Jiang Jingji |
| Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas. Cancers 2022 1 14 (2): . Tabebi Mouna, ?ysiak Ma?gorzata, Dutta Ravi Kumar, Lomazzi Sandra, Turkina Maria V, Brunaud Laurent, Gimm Oliver, Söderkvist Pet |
| The Natural History of Observed SDHx-Related Head and Neck Paragangliomas Using Three-Dimensional Volumetric Tumor Analysis. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2023 8 . Evan L Tooker, Richard H Wiggins, Mana Espahbodi, Anne Naumer, Luke O Buchmann, Samantha E Greenberg, Neil S Pat |
| 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 |
| Serum succinate/fumarate ratio in paraganglioma/pheochromocytoma patients attending an endocrine oncogenetic unit. The Journal of clinical endocrinology and metabolism 2023 2 . Bancel Léo-Paul, Masso Vincent, Dessein Anne-Frederique, Aubert Sébastien, Leteurtre Emmanuelle, Coppin Lucie, Odou Marie-Françoise, Do Cao Christine, Cardot-Bauters Catherine, Pigny Pasc |
| Local recurrence and metastatic disease in pheochromocytomas and sympathetic paragangliomas. Frontiers in endocrinology 2023 12 14 1279828. Marta Araujo-Castro, Iñigo García Sanz, César Mínguez Ojeda, Felicia Hanzu, Mireia Mora, Almudena Vicente, Concepción Blanco Carrera, Paz de Miguel Novoa, María Del Carmen López García, Cristina Lamas, Laura Manjón-Miguélez, María Del Castillo Tous, Pablo Rodríguez de Vera, Rebeca Barahona San Millán, Mónica Recasens, Mariana Tomé Fernández-Ladreda, Nuria Valdés, Paola Gracia Gimeno, Cristina Robles Lazaro, Theodora Michalopoulou, Cristina Álvarez Escolá, Rogelio García Centeno, Verónica Barca-Tierno, Aura D Herrera-Martínez, María Calatay |
| The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR. International journal of molecular sciences 2023 1 24 (1): . Snezhkina Anastasiya, Fedorova Maria, Kobelyatskaya Anastasiya, Markova Daria, Lantsova Margarita, Ikonnikova Anna, Emelyanova Marina, Kalinin Dmitry, Pudova Elena, Melnikova Nataliya, Dmitriev Alexey, Krasnov George, Pavlov Vladislav, Kudryavtseva An |
| SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas. Frontiers in genetics 2023 1 13 999329. Manotas María Carolina, Rivera Ana Lucía, Gómez Ana Milena, Abisambra Patricia, Guevara Gonzalo, Medina Vilma, Tapiero Sandra, Huertas Antonio, Riaño-Moreno Julián, Mejía Juan Carlos, Gonzalez-Clavijo Angélica María, Tapiero-García Mireya, Cuéllar-Cuéllar Andrés Arturo, Fierro-Maya Luis Felipe, Sanabria-Salas María Caroli |
| Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma. The Journal of clinical endocrinology and metabolism 2023 1 . Fagundes Gustavo F C, Freitas-Castro Felipe, Santana Lucas S, Afonso Ana Caroline F, Petenuci Janaina, Funari Mariana F A, Guimaraes Augusto G, Ledesma Felipe L, Pereira Maria Adelaide A, Victor Carolina R, Ferrari Marcela S M, Coelho Fernando M A, Srougi Victor, Tanno Fabio Y, Chambo Jose L, Latronico Ana Claudia, Mendonca Berenice B, Fragoso Maria Candida B V, Hoff Ana O, Almeida Madson |
| Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective. Best practice & research. Clinical endocrinology & metabolism 2024 9 101922. Felipe Freitas-Castro, Madson Q Almei |
| Algorithm of genetic diagnosis for patients with head and neck paraganglioma-update. Frontiers in neurology 2024 9 15 1437027. Katarzyna Radomska, Zofia Leszczy?ska, Rafal Becht, Monika Zaborek-?yczba, Anna Rzepakowska, Jakub Lubi?ski, Marcin Szyma?s |
| Genetic background and intraoperative haemodynamic instability in patients with pheochromocytoma and paraganglioma: a multicenter retrospective study. International journal of surgery (London, England) 2024 8 . Minghao Li, Jing Zhang, Yingxian Pang, Yao He, Yanting Shen, Jing Wang, Xiaowen Xu, Jiahao Liu, Kai Cheng, Zhi Li, Yujun Liu, Xin Gao, Graeme Eisenhofer, Jingjing Jiang, Longfei L |
| Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review. Annals of laboratory medicine 2024 7 . Kwan Hoon Jo, Jaewoong Lee, Jaeeun Yoo, Hoon Seok Kim, Eun Sook Kim, Je Ho Han, Yi Sun Jang, Jae-Seung Yun, Jang Won Son, Soon Jib Yoo, Seung Hwan Lee, Dong Jun Lim, Hyuk-Sang Kwon, Seungok Lee, Sungdae Moon, Myungshin K |
| Succinate dehydrogenase mutations in head and neck paragangliomas: A systematic review and meta-analysis of individual patients' data. Head & neck 2024 1 . Elizabeth S Koh, Anas Dabsha, Mohamed Rahouma, Kyle Zappi, Yashes Srinivasan, Andy Hickner, David I Kutl |
| Outcomes of systemic treatment according to germline mutational status in patients with metastatic pheochromocytoma and paraganglioma. Clinical genitourinary cancer 2024 1 . Young-Gyu Park, Inkeun Park, Yongjae Kim, Ho-Su Lee, Woochang Lee, Shinkyo Yoon, Jae Lyun L |
- Page last reviewed:Feb 1, 2024
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