Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 103 Records) |
Query Trace: Paraganglioma and SDHB[original query] |
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Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma. Journal of medical genetics 2019 9 57 (2): 96-103. Bayley Jean Pierre, Bausch Birke, Rijken Johannes Adriaan, van Hulsteijn Leonie Theresia, Jansen Jeroen C, Ascher David, Pires Douglas Eduardo Valente, Hes Frederik J, Hensen Erik F, Corssmit Eleonora P M, Devilee Peter, Neumann Hartmut P |
Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis. Endocrine-related cancer 2019 Mar . Crona Joakim, Lamarca Angela, Ghosal Suman, Welin Staffan, Skogseid Britt, Pacak Kar |
Loss of BAP1 in Pheochromocytomas and Paragangliomas Seems Unrelated to Genetic Mutations. Endocrine pathology 2019 11 30 (4): 276-284. Maffeis Valeria, Cappellesso Rocco, Nicolè Lorenzo, Guzzardo Vincenza, Menin Chiara, Elefanti Lisa, Schiavi Francesca, Guido Maria, Fassina Ambrog |
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 |
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 |
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 |
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 |
Ancestry-specific predisposing germline variants in cancer. Genome medicine 2020 5 12 (1): 51. Oak Ninad, Cherniack Andrew D, Mashl R Jay, , Hirsch Fred R, Ding Li, Beroukhim Rameen, Gümü? Zeynep H, Plon Sharon E, Huang Kuan-L |
Pheochromocytoma and Paraganglioma in Children and Adolescents: Experience of the French Society of Pediatric Oncology (SFCE). Journal of the Endocrine Society 2020 5 4 (5): bvaa039. de Tersant Marie, Généré Lucile, Freyçon Claire, Villebasse Sophie, Abbas Rachid, Barlier Anne, Bodet Damien, Corradini Nadège, Defachelles Anne-Sophie, Entz-Werle Natacha, Fouquet Cyrielle, Galmiche Louise, Gandemer Virginie, Lacour Brigitte, Mansuy Ludovic, Orbach Daniel, Pluchart Claire, Réguerre Yves, Rigaud Charlotte, Sarnacki Sabine, Sirvent Nicolas, Stephan Jean-Louis, Thebaud Estelle, Gimenez-Roqueplo Anne-Paule, Brugières Lauren |
Clinical and genetic features of pediatric PCCs/PGLs patients: a single-center experience in China. Translational andrology and urology 2020 5 9 (2): 267-275. Li Minghao, Wang Cikui, Liu Peihua, Qi Lin, Chen Xiang, Fan Benyi, Zhang Xiangyang, Zhang Bo, Xiao Qiao, Yu Anze, Liu Longf |
Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents. Journal of cancer research and clinical oncology 2020 2 146 (4): 1051-1063. Jochmanova Ivana, Abcede April Melody T, Guerrero Ruby Jane S, Malong Chandy Lou P, Wesley Robert, Huynh Thanh, Gonzales Melissa K, Wolf Katherine I, Jha Abhishek, Knue Marianne, Prodanov Tamara, Nilubol Naris, Mercado-Asis Leilani B, Stratakis Constantine A, Pacak Kar |
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 |
Efficacy of Immunohistochemistry for SDHB in the Screening of Hereditary Pheochromocytoma-Paraganglioma. Biology 2021 8 10 (7): . Choi Hye-Ryeon, Koo Ja-Seung, Lee Cho-Rok, Lee Jan-Dee, Kang Sang-Wook, Jo Young-Seok, Chung Woong-Yo |
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 |
Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data. Cancers 2021 May 13 (10): . Choi Yun Mi, Lim Jinyeong, Jeon Min Ji, Lee Yu-Mi, Sung Tae-Yon, Hong Eun-Gyoung, Lee Ji-Young, Jang Se Jin, Kim Won Gu, Song Dong Eun, Chun Sung-M |
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 |
Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma. Journal of kidney cancer and VHL 2021 8 (1): 19-24. Yalcintepe Sinem, Gurkan Hakan, Korkmaz Fatma Nur, Demir Selma, Atli Engin, Eker Damla, Guler Hazal Sezginer, Zhuri Drenusha, Atli Emine Ikbal, Salt Semra Ayturk, Sahin Mustafa, Guldiken Sib |
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 |
Case Report: Genetic Alterations Associated with the Progression of Carotid Paraganglioma. Current issues in molecular biology 2021 12 43 (3): 2266-2275. Pavlov Vladislav, Snezhkina Anastasiya, Kalinin Dmitry, Golovyuk Alexander, Kobelyatskaya Anastasiya, Bakhtogarimov Ildar, Volchenko Nadezhda, Krasnov George, Kudryavtseva An |
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma. Journal of medical genetics 2021 11 60 (1): 25-32. Bayley Jean Pierre, Bausch Birke, Jansen Jeroen C, Hensen Erik F, van der Tuin Karin, Corssmit Eleonora Pm, Devilee Peter, Neumann Hartmut |
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 |
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 |
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 |
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 |
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. Endocrine-related cancer 2023 2 . Davidoff Dahlia F, Lim Eugenie S, Benn Diana E, Subramaniam Yuvanaa, Dorman Eleanor, Burgess John R, Akker Scott A, Clifton-Bligh Roderick |
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 |
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 Predisposition to Pheochromocytoma and Paraganglioma: 21 Years' Experience in the Field. Annales d'endocrinologie 2024 5 . Catherine Cardot-Bauters, Marie-Christine Vantyghem, Christine Do Cao, Rachel Desailloud, Michael Joubert, Lucie Coppin, Marie-Francoise Odou, Pascal Pig |
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