Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 121 Records) |
Query Trace: SDHD[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 |
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 |
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 |
Mutation profiling in eight cases of vagal paragangliomas. BMC medical genomics 2020 9 13 (Suppl 8): 115. Kudryavtseva Anna V, Kalinin Dmitry V, Pavlov Vladislav S, Savvateeva Maria V, Fedorova Maria S, Pudova Elena A, Kobelyatskaya Anastasiya A, Golovyuk Alexander L, Guvatova Zulfiya G, Razmakhaev George S, Demidova Tatiana B, Simanovsky Sergey A, Slavnova Elena N, Poloznikov Andrey ?, Polyakov Andrey P, Melnikova Nataliya V, Dmitriev Alexey A, Krasnov George S, Snezhkina Anastasiya |
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 |
[Identification of SDHD c.170-1G>T variant in pedigree affected with carotid body tumor]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Jun 37 (6): 673-676. Liu Hong, Zhang Jingqiu, Xu Feng, Liu Hui, Shen Kuiling, Ma Shaoga |
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 |
Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors. Neoplasma 2020 4 67 (4): 898-908. Shinriki S, Maeshiro M, Shimamura K, Kawashima J, Araki E, Ibusuki M, Yamamoto Y, Iwase H, Miyamoto Y, Baba H, Yamaguchi M, Matsui |
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 |
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma. Journal of medical genetics 2020 Nov . Kim Jung Hee, Kim Man Jin, Kong Sung Hye, Kim Su Jin, Kang Hyein, Shin Chan Soo, Park Sung Sup, Lee Kyu Eun, Seong Moon-W |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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- Page last updated:Apr 29, 2024
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