Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 59 Records) |
Query Trace: Paraganglioma and VHL[original query] |
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Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015 Aug . Lee C H, Cheung C Y Y, Chow W S, Woo Y C, Yeung C Y, Lang B H H, Fong C H Y, Kwok K H M, Chen S P L, Mak C M, Tan K C B, Lam K S |
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. European journal of endocrinology / European Federation of Endocrine Societies 2016 Oct 175 (4): 311-23. Pandit Reshma, Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Goroshi Manjunath, Khare Shruti, Nair Sandhya, Raghavan Vijaya, Dalvi Abhay, Hira Priya, Fernandes Gwendolyn, Sathe Pragati, Rojekar Amey, Malhotra Gaurav, Bakshi Ganesh, Prakash Gagan, Bhansali Anil, Walia Rama, Kamalanathan Sadishkumar, Sahoo Jayaprakash, Desai Ankush, Bhagwat Nikhil, Mappa Prashanth, Rajput Rajesh, Chandrashekhar Sudha Rao, Shivane Vyankatesh, Menon Padma, Lila Anurag, Bandgar Tushar, Shah Nali |
Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era. Critical reviews in oncology/hematology 2016 Apr 100 190-208. Pillai Suja, Gopalan Vinod, Smith Robert A, Lam Alfred K |
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. American journal of medical genetics. Part A 2016 Oct . Murakoshi Miki, Takasawa Kei, Nishioka Masato, Asakawa Masahiro, Kashimada Kenichi, Yoshimoto Takanobu, Yamamoto Toshiyuki, Takekoshi Kazuhiro, Ogawa Yoshihiro, Shimohira Masayu |
[Hereditary pheochromocytoma-associated syndromes. Part 2]. Terapevticheskii arkhiv 2017 6 87 (10): 115-119. Yukina M Yu, Troshina E A, Beltsevich D |
Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India. Journal of pediatric endocrinology & metabolism : JPEM 2017 Apr . Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Pandit Reshma, Goroshi Manjunath, Shivane Vyankatesh, Lila Anurag, Bandgar Tushar, Shah Nalini |
Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma. Familial cancer 2017 11 17 (3): 441-449. Lomte Nilesh, Kumar Sanjeet, Sarathi Vijaya, Pandit Reshma, Goroshi Manjunath, Jadhav Swati, Lila Anurag R, Bandgar Tushar, Shah Nalini |
A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2 positive polycythemia vera: a case report. BMC cancer 2018 3 18 (1): 286. Pang Ying, Gupta Garima, Yang Chunzhang, Wang Herui, Huynh Thanh-Truc, Abdullaev Ziedulla, Pack Svetlana D, Percy Melanie J, Lappin Terence R J, Zhuang Zhengping, Pacak Kar |
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 |
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 |
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 |
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 |
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. Journal of medical genetics 2020 1 57 (11): 752-759. Buffet Alexandre, Calsina Bruna, Flores Shahida, Giraud Sophie, Lenglet Marion, Romanet Pauline, Deflorenne Elisa, Aller Javier, Bourdeau Isabelle, Bressac-de Paillerets Brigitte, Calatayud María, Dehais Caroline, De Mones Del Pujol Erwan, Elenkova Atanaska, Herman Philippe, Kamenický Peter, Lejeune Sophie, Sadoul Jean Louis, Barlier Anne, Richard Stephane, Favier Judith, Burnichon Nelly, Gardie Betty, Dahia Patricia L, Robledo Mercedes, Gimenez-Roqueplo Anne-Pau |
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 |
Genotype-phenotype correlation in von Hippel-Lindau disease. Acta ophthalmologica 2021 Mar . Reich Michael, Jaegle Sabine, Neumann-Haefelin Elke, Klingler Jan-Helge, Evers Charlotte, Daniel Moritz, Bucher Felicitas, Ludwig Franziska, Nuessle Simone, Kopp Julia, Boehringer Daniel, Reinhard Thomas, Lagrèze Wolf A, Lange Clemens, Agostini Hansjuergen, Lang Stefan |
Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study. World journal of surgery 2021 12 46 (3): 591-599. Dhanda Mallika, Agarwal Amit, Mandal Kausik, Gupta Sushil, Sabaretnam M, Chand Gyan, Mishra Anjali, Agarwal Gaurav, Mishra Saroj Kan |
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 |
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 |
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 |
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 |
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 |
Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma. Gene 2023 4 147432. Tabebi Mouna, Frikha Fakher, Volpe Massimiliano, Gimm Oliver, Söderkvist Pet |
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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