Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 71 Records) |
| Query Trace: Disease and SDHB[original query] |
|---|
| Bayesian approach to determining penetrance of pathogenic SDH variants. Journal of medical genetics 2018 Sep . Benn Diana E, Zhu Ying, Andrews Katrina A, Wilding Mathilda, Duncan Emma L, Dwight Trisha, Tothill Richard W, Burgess John, Crook Ashley, Gill Anthony J, Hicks Rodney J, Kim Edward, Luxford Catherine, Marfan Helen, Richardson Anne Louise, Robinson Bruce, Schlosberg Arran, Susman Rachel, Tacon Lyndal, Trainer Alison, Tucker Katherine, Maher Eamonn R, Field Michael, Clifton-Bligh Roderick |
| Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. JAMA oncology 2018 7 4 (9): 1228-1235. Carlo Maria I, Mukherjee Semanti, Mandelker Diana, Vijai Joseph, Kemel Yelena, Zhang Liying, Knezevic Andrea, Patil Sujata, Ceyhan-Birsoy Ozge, Huang Kuo-Cheng, Redzematovic Almedina, Coskey Devyn T, Stewart Carolyn, Pradhan Nisha, Arnold Angela G, Hakimi A Ari, Chen Ying-Bei, Coleman Jonathan A, Hyman David M, Ladanyi Marc, Cadoo Karen A, Walsh Michael F, Stadler Zsofia K, Lee Chung-Han, Feldman Darren R, Voss Martin H, Robson Mark, Motzer Robert J, Offit Kenne |
| Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. Journal of medical genetics 2018 Jun 55 (6): 384-394. Andrews Katrina A, Ascher David B, Pires Douglas Eduardo Valente, Barnes Daniel R, Vialard Lindsey, Casey Ruth T, Bradshaw Nicola, Adlard Julian, Aylwin Simon, Brennan Paul, Brewer Carole, Cole Trevor, Cook Jackie A, Davidson Rosemarie, Donaldson Alan, Fryer Alan, Greenhalgh Lynn, Hodgson Shirley V, Irving Richard, Lalloo Fiona, McConachie Michelle, McConnell Vivienne P M, Morrison Patrick J, Murday Victoria, Park Soo-Mi, Simpson Helen L, Snape Katie, Stewart Susan, Tomkins Susan E, Wallis Yvonne, Izatt Louise, Goudie David, Lindsay Robert S, Perry Colin G, Woodward Emma R, Antoniou Antonis C, Maher Eamonn |
| 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 |
| Patterns of Mutation Enrichment in Metastatic Triple-Negative Breast Cancer. Clinical Medicine Insights. Oncology 2019 13 1179554919868482. Saravia César H, Flores Claudio, Schwarz Luis J, Bravo Leny, Zavaleta Jenny, Araujo Jhajaira, Neciosup Silvia, Pinto Joseph |
| SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center. Endocrine 2019 May . Donato Sara, Simões Helder, Pinto Ana Teresa, M Cavaco Branca, Leite Valeria |
| 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 |
| 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 |
| 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 |
| Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort. Clinical endocrinology 2020 3 92 (6): 545-553. Martins Raquel G, Cunha Nuno, Simões Helder, Matos Maria João, Silva João, Torres Isabel, Rodrigues Fernando, Leite Valeriano, Teixeira Manuel R, Bugalho Maria Jo |
| 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 |
| HIF2? supports pro-metastatic behavior in pheochromocytomas/paragangliomas. Endocrine-related cancer 2020 10 27 (11): 625-640. Bechmann Nicole, Moskopp Mats Leif, Ullrich Martin, Calsina Bruna, Wallace Pål William, Richter Susan, Friedemann Markus, Langton Katharina, Fliedner Stephanie M J, Timmers Henri J L M, Nölting Svenja, Beuschlein Felix, Fassnacht Martin, Prejbisz Aleksander, Pacak Karel, Ghayee Hans K, Bornstein Stefan R, Dieterich Peter, Pietzsch Jens, Wielockx Ben, Robledo Mercedes, Qin Nan, Eisenhofer Grae |
| Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. BMC genomics 2021 Aug 22 (1): 590. Lo Faro Valeria, Ten Brink Jacoline B, Snieder Harold, Jansonius Nomdo M, Bergen Arthur |
| 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 |
| Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 2021 7 5 (2): . Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Li |
| 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 |
| 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 |
| 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 |
| Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients. Journal of personalized medicine 2022 Aug 12 (8): . Hutchcraft Megan Leigh, Zhang Shulin, Lin Nan, Gottschalk Ginny Lee, Keck James W, Belcher Elizabeth A, Sears Catherine, Wang Chi, Liu Kun, Dietz Lauren E, Pickarski Justine C, Wei Sainan, Cardarelli Roberto, DiPaola Robert S, Kolesar Jill |
| Succinate: A Serum Biomarker of SDHB-Mutated Paragangliomas and Pheochromocytomas. The Journal of clinical endocrinology and metabolism 2022 Aug . Lamy Constance, Tissot Hubert, Faron Matthieu, Baudin Eric, Lamartina Livia, Pradon Caroline, Al Ghuzlan Abir, Leboulleux Sophie, Perfettini Jean-Luc, Paci Angelo, Hadoux Julien, Broutin Soph |
| 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 |
| TNM Staging and Overall Survival in Patients with Pheochromocytoma and Sympathetic Paraganglioma. The Journal of clinical endocrinology and metabolism 2022 11 . Jimenez Camilo, Ma Junsheng, Roman Gonzalez Alejandro, Varghese Jeena, Zhang Miao, Perrier Nancy, Habra Mouhammed Amir, Graham Paul, Waguespack Steven |
| Novel Genomic Risk Stratification Model for Primary Gastrointestinal Stromal Tumors (GIST) in the Imatinib and Adjuvant Therapy Era. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 7 . Josephine Kam Tai K Dermawan, Ciara Kelly, Zhidong Gao, Shaleigh Smith, Bhumika Jadeja, Samuel Singer, William D Tap, Ping Chi, Cristina R Antones |
| 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 |
| Local recurrence and metastatic disease in pheochromocytomas and sympathetic paragangliomas. Frontiers in endocrinology 2023 12 14 1279828. Marta Araujo-Castro, Iñigo García Sanz, César Mínguez Ojeda, Felicia Hanzu, Mireia Mora, Almudena Vicente, Concepción Blanco Carrera, Paz de Miguel Novoa, María Del Carmen López García, Cristina Lamas, Laura Manjón-Miguélez, María Del Castillo Tous, Pablo Rodríguez de Vera, Rebeca Barahona San Millán, Mónica Recasens, Mariana Tomé Fernández-Ladreda, Nuria Valdés, Paola Gracia Gimeno, Cristina Robles Lazaro, Theodora Michalopoulou, Cristina Álvarez Escolá, Rogelio García Centeno, Verónica Barca-Tierno, Aura D Herrera-Martínez, María Calatay |
| Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective. Best practice & research. Clinical endocrinology & metabolism 2024 9 101922. Felipe Freitas-Castro, Madson Q Almei |
| Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers 2024 9 16 (17): . Fiona Bruinsma, Philip Harraka, Susan Jordan, Daniel J Park, Bernard Pope, Jason Steen, Roger L Milne, Graham G Giles, Ingrid Winship, Katherine M Tucker, Melissa C Southey, Tu Nguyen-Dumo |
| Genetic landscape of Romanian PPGLs. Journal of cellular and molecular medicine 2024 12 28 (23): e70204. Sofia-Maria Lider-Burciulescu, Monica Gheorghiu, Elena Braha, Laura Semonia Stanescu, Attila Patocs, Corin Bad |
| Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk. Genetics in medicine : official journal of the American College of Medical Genetics 2024 11 101246. Jacquelyn Powers, Heather Wachtel, Erica Trujillo, Heena Desai, Ryan Hausler, Laura Conway, Bradley Wubbenhorst, , , Susan M Domchek, Katherine L Nathanson, Kara N Maxwe |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: