Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 48 Records) |
| Query Trace: Syndrome and VHL[original query] |
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| Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family. Balkan journal of medical genetics : BJMG 2015 Dec 18 (2): 65-70. Kinyas S, Ozal S A, Guclu H, Gurlu V, Esgin H, Gurkan |
| Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing. BMC medical genomics 2017 05 10 (1): 33. Cheng Donavan T, Prasad Meera, Chekaluk Yvonne, Benayed Ryma, Sadowska Justyna, Zehir Ahmet, Syed Aijazuddin, Wang Yan Elsa, Somar Joshua, Li Yirong, Yelskaya Zarina, Wong Donna, Robson Mark E, Offit Kenneth, Berger Michael F, Nafa Khedoudja, Ladanyi Marc, Zhang Liyi |
| 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 |
| 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 |
| 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 |
| [Diagnosis and treatment of pancreatic neuroendocrine neoplasmas in Von Hippel-Lindau syndrome]. Zhonghua wai ke za zhi [Chinese journal of surgery] 2018 11 56 (11): 869-872. Liu W K, Tian X D, Yang Y |
| A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease. BMC medical genetics 2018 11 19 (1): 204. Wu Xing, Chen Lanlan, Zhang Yixin, Xie Hainan, Xue Meirong, Wang Yi, Huang Houb |
| 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 |
| The efficacy of everolimus and sunitinib in patients with sporadic or germline mutated metastatic pancreatic neuroendocrine tumors. Journal of gastrointestinal oncology 2019 8 10 (4): 645-651. Nuñez Jose Eduardo, Donadio Mauro, Filho Duilio Rocha, Rego Juliana Florinda, Barros Milton, Formiga Maria Nirvana, Lopez Rossana, Riechelmann Rach |
| 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, |
| 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 |
| 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 |
| Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient. Medicine 2020 5 99 (19): e20071. Shim Kwang Eon, Lee Chung, Kim Jin Up, Choi Gwang Ho, Kwak Kyoung Min, Kim Seok Hyung, Kim Hyunho, Yoon Jong Woo, Shin Tae Young, Jeong Chang Wook, Kim Hyuns |
| 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 |
| 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 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 |
| Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma. JAMA oncology 2020 Mar . Mirabello Lisa, Zhu Bin, Koster Roelof, Karlins Eric, Dean Michael, Yeager Meredith, Gianferante Matthew, Spector Logan G, Morton Lindsay M, Karyadi Danielle, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Song Lei, Pankratz Nathan, Pinheiro Maisa, Gastier-Foster Julie M, Gorlick Richard, de Toledo Silvia Regina Caminada, Petrilli Antonio S, Patino-Garcia Ana, Lecanda Fernando, Gutierrez-Jimeno Miriam, Serra Massimo, Hattinger Claudia, Picci Piero, Scotlandi Katia, Flanagan Adrienne M, Tirabosco Roberto, Amary Maria Fernanda, Kurucu Nilgün, Ilhan Inci Ergurhan, Ballinger Mandy L, Thomas David M, Barkauskas Donald A, Mejia-Baltodano Gerardo, Valverde Patricia, Hicks Belynda D, Zhu Bin, Wang Mingyi, Hutchinson Amy A, Tucker Margaret, Sampson Joshua, Landi Maria T, Freedman Neal D, Gapstur Susan, Carter Brian, Hoover Robert N, Chanock Stephen J, Savage Sharon |
| Growth Rates of Genetically Defined Renal Tumors: Implications for Active Surveillance and Intervention. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 2 38 (11): 1146-1153. Ball Mark W, An Julie Y, Gomella Patrick T, Gautam Rabindra, Ricketts Christopher J, Vocke Cathy D, Schmidt Laura S, Merino Maria J, Srinivasan Ramaprasad, Malayeri Ashkan A, Metwalli Adam R, Linehan W Marst |
| 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 |
| Identification of Genetic Susceptibility Factors Associated with Canine Gastric Dilatation-Volvulus. Genes 2020 Nov 11 (11): . Piras Ignazio S, Perdigones Nieves, Zismann Victoria, Briones Natalia, Facista Salvatore, Rivera José Luis, Rozanski Elizabeth, London Cheryl A, Hendricks William P |
| Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. Neurogenetics 2021 5 22 (2): 105-115. Rampazzo Ana Carla Mondek, Dos Santos Rafael Rodrigues Pinheiro, Maluf Fernando Arfux, Simm Renata Faria, Marson Fernando Augusto Lima, Ortega Manoela Marques, de Aguiar Paulo Henrique Pir |
| Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome. Endocrine 2021 5 74 (1): 180-187. Penitenti F, Landoni L, Scardoni M, Piredda M L, Cingarlini S, Scarpa A, D'Onofrio M, Girelli D, Davi 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 |
| 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 |
| Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients. Journal of medical genetics 2021 12 59 (10): 951-956. Zhang Kenan, Qiu Jianhui, Yang Wuping, Ma Kaifang, Li Lei, Xie Haibiao, Xu Yawei, Gong Yanqing, Zhou Jingcheng, Cai Lin, Gong K |
| Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia. JAMA network open 2021 11 4 (11): e2132615. Gupta Sounak, Erickson Lori A, Lohse Christine M, Shen Wei, Pitel Beth A, Knight Shannon M, Halling Kevin C, Herrera-Hernandez Loren, Boorjian Stephen A, Thompson R Houston, Leibovich Bradley C, Jimenez Rafael E, Cheville John |
| Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata. eLife 2022 8 11 . Ohh Michael, Taber Cassandra C, Ferens Fraser G, Tarade Dani |
| A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma? Molecular genetics and genomics : MGG 2022 8 297 (6): 1615-1626. Azimi Fatemeh, Aghajani Ali, Khakpour Golnaz, Chaibakhsh Sami |
| 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 |
| The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis. Genes 2022 2 13 (2): . Hudler Petra, Urbancic Moj |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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