HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata. eLife 2022 8 11 . Ohh Michael, Taber Cassandra C, Ferens Fraser G, Tarade Dani |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 diagnosis, treatment and screening of the VHL gene in three von Hippel-Lindau disease pedigrees. Experimental and therapeutic medicine 2020 8 20 (2): 1237-1244. Lin Guobing, Zhao Yihua, Zhang Zhewei, Zhang Huijia |
| 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 |
| Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study. Journal of medical genetics 2020 4 57 (11): 744-751. Xie Haibiao, Ma Kaifang, Zhang Jiufeng, Hong Baoan, Zhou Jingcheng, Li Lei, Zhang Kenan, Gong Kan, Cai 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 |
| 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 |
| The Genotype-Phenotype Association of Von Hipple Lindau Disease Based on Mutation Locations: A Retrospective Study of 577 Cases in a Chinese Population. Frontiers in genetics 2020 11 532588. Qiu Jianhui, Zhang Kenan, Ma Kaifang, Zhou Jingcheng, Gong Yanqing, Cai Lin, Gong K |
| 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 |
| A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease. The Journal of clinical endocrinology and metabolism 2019 4 104 (9): 3826-34. Flores Shahida K, Cheng Ziming, Jasper Angela M, Natori Keiko, Okamoto Takahiro, Tanabe Akiyo, Gotoh Koro, Shibata Hirotaka, Sakurai Akihiro, Nakai Takuya, Wang Xiaojing, Zethoven Magnus, Balachander Shiva, Aita Yuichi, Young William, Zheng Siyuan, Takekoshi Kazuhiro, Nakamura Eijiro, Tothill Richard W, Aguiar Ricardo C T, Dahia Patricia L |
| Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy. JAMA network open 2019 8 2 (8): e198898. Neumann Hartmut P H, Tsoy Uliana, Bancos Irina, Amodru Vincent, Walz Martin K, Tirosh Amit, Kaur Ravinder Jeet, McKenzie Travis, Qi Xiaoping, Bandgar Tushar, Petrov Roman, Yukina Marina Y, Roslyakova Anna, van der Horst-Schrivers Anouk N A, Berends Annika M A, Hoff Ana O, Castroneves Luciana Audi, Ferrara Alfonso Massimiliano, Rizzati Silvia, Mian Caterina, Dvorakova Sarka, Hasse-Lazar Kornelia, Kvachenyuk Andrey, Peczkowska Mariola, Loli Paola, Erenler Feyza, Krauss Tobias, Almeida Madson Q, Liu Longfei, Zhu Feizhou, Recasens Mònica, Wohllk Nelson, Corssmit Eleonora P M, Shafigullina Zulfiya, Calissendorff Jan, Grozinsky-Glasberg Simona, Kunavisarut Tada, Schalin-Jäntti Camilla, Castinetti Frederic, Vlcek Petr, Beltsevich Dmitry, Egorov Viacheslav I, Schiavi Francesca, Links Thera P, Lechan Ronald M, Bausch Birke, Young William F, Eng Charis, |
| 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 |
| New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations. Journal of the Endocrine Society 2019 9 3 (9): 1682-1692. Fagundes Gustavo F C, Petenuci Janaina, Lourenco Delmar M, Trarbach Ericka B, Pereira Maria Adelaide A, Correa D'Eur Joya Emilie, Hoff Ana O, Lerario Antonio M, Zerbini Maria Claudia N, Siqueira Sheila, Yamauchi Fernando, Srougi Victor, Tanno Fabio Y, Chambo Jose Luis, Latronico Ana Claudia, Mendonca Berenice B, Fragoso Maria Candida B V, Almeida Madson |
| 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 and phenotype correlation in von Hippel-Lindau disease based on alteration of the HIF-? binding site in VHL protein. Genetics in medicine : official journal of the American College of Medical Genetics 2018 3 20 (10): 1266-1273. Liu Sheng-Jie, Wang Jiang-Yi, Peng Shuang-He, Li Teng, Ning Xiang-Hui, Hong Bao-An, Liu Jia-Yuan, Wu Peng-Jie, Zhou Bo-Wen, Zhou Jing-Cheng, Qi Nie-Nie, Peng Xiang, Zhang Jiu-Feng, Ma Kai-Fang, Cai Lin, Gong K |
| Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease. Endocrine connections 2018 6 7 (7): 870-878. Liu Qiuli, Yuan Gang, Tong Dali, Liu Gaolei, Yi Yuting, Zhang Jun, Zhang Yao, Wang Lin-Ang, Wang Luofu, Zhang Dianzheng, Chen Rongrong, Guan Yanfang, Yi Xin, Lan Weihua, Jiang J |
| [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 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 29, 2023
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