Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: Disease and MITF[original query] |
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| Microphthalmia-associated transcription factor polymorphisms and association with bone mineral density of the proximal femur in postmenopausal women. Molecules and cells 2007 Apr 23 (2): 246-51. Koh Jung-Min, Kim Ghi Su, Oh Bermseok, Lee Jong Yong, Park Byung Lae, Shin Hyoung Doo, Hong Jung Min, Kim Tae-Ho, Kim Shin-Yoon, Park Eui Ky |
| Genotype analysis in Hungarian patients with multiple primary melanoma. Experimental dermatology 2014 May 23 (5): 361-4. Hatvani Zsófia, Brodszky Valentin, Mazán Mercédesz, Pintér Dóra, Hársing Judit, Tóth Veronika, Somlai Beáta, Kárpáti Sarol |
| Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes, chromosomes & cancer 2015 Sep 54 (9): 542-54. Juhlin C Christofer, Stenman Adam, Haglund Felix, Clark Victoria E, Brown Taylor C, Baranoski Jacob, Bilguvar Kaya, Goh Gerald, Welander Jenny, Svahn Fredrika, Rubinstein Jill C, Caramuta Stefano, Yasuno Katsuhito, Günel Murat, Bäckdahl Martin, Gimm Oliver, Söderkvist Peter, Prasad Manju L, Korah Reju, Lifton Richard P, Carling Tobi |
| Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. Neurobiology of aging 2016 Jul . Lubbe S J, Escott-Price V, Brice A, Gasser T, Pittman A M, Bras J, Hardy J, Heutink P, Wood N M, Singleton A B, Grosset D G, Carroll C B, Law M H, Demenais F, Iles M M, , Bishop D T, Newton-Bishop J, Williams N M, Morris H R, |
| Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF. The British journal of dermatology 2016 Jul . Mangas C, Potrony M, Mainetti C, Bianchi E, Carrozza Merlani P, Mancarella Eberhardt A, Maspoli-Postizzi E, Marazza G, Marcollo-Pini A, Pelloni F, Sessa C, Simona B, Puig-Butillé J A, Badenas C, Puig |
| Characterization of patients at high risk of melanoma in Austria. The British journal of dermatology 2016 Jan . Müller C, Wendt J, Rauscher S, Burgstaller-Muehlbacher S, Sunder-Plassmann R, Scheurecker C, Richtig E, Fae I, Fischer G, Pehamberger H, Okamoto |
| Clinical and genetic investigation of families with type II Waardenburg syndrome. Molecular medicine reports 2016 Jan . Chen Yong, Yang Fuwei, Zheng Hexin, Zhou Jianda, Zhu Ganghua, Hu Peng, Wu Weiji |
| Targeted exome sequencing of Korean triple-negative breast cancer reveals homozygous deletions associated with poor prognosis of adjuvant chemotherapy-treated patients. Oncotarget 2017 Sep 8 (37): 61538-61550. Jeong Hae Min, Kim Ryong Nam, Kwon Mi Jeong, Oh Ensel, Han Jinil, Lee Se Kyung, Choi Jong-Sun, Park Sara, Nam Seok Jin, Gong Gyung Yup, Nam Jin Wu, Choi Doo Ho, Lee Hannah, Nam Byung-Ho, Choi Yoon-La, Shin Young K |
| Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Ophthalmic genetics 2018 Feb 1-9. Vidya Nair Gopinathan, Rajkumar Sankaranarayanan, Vasavada Abhay |
| Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. Biochimica et biophysica acta. Molecular basis of disease 2018 Jun 1864 (6 Pt B): 2247-2254. Yu Yao, Hu Hao, Chen Jiun-Sheng, Hu Fulan, Fowler Jerry, Scheet Paul, Zhao Hua, Huff Chad |
| Integrative Analysis of Genome-Wide Association Studies and DNA Methylation Profile Identified Genetic Control Genes of DNA Methylation for Kashin-Beck Disease. Cartilage 2019 6 13 (1_suppl): 780S-788S. Li Ping, Wu Cuiyan, Guo Xiong, Wen Yan, Liu Li, Liang Xiao, Du Yanan, Zhang Lu, Ma Mei, Cheng Shiqiang, Cheng Bolun, Wang Sen, Zhang Fe |
| Genomic Features of Exceptional Response in Vemurafenib ± Cobimetinib-treated Patients with BRAF -mutated Metastatic Melanoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 3 25 (11): 3239-3246. Yan Yibing, Wongchenko Matthew J, Robert Caroline, Larkin James, Ascierto Paolo A, Dréno Brigitte, Maio Michele, Garbe Claus, Chapman Paul B, Sosman Jeffrey A, Shi Zhen, Koeppen Hartmut, Hsu Jessie J, Chang Ilsung, Caro Ivor, Rooney Isabelle, McArthur Grant A, Ribas Anto |
| Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2019 Jan . Rayner J E, McMeniman E K, Duffy D L, De'Ambrosis B, Smithers B M, Jagirdar K, Lee K J, Soyer H P, Sturm R |
| Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing. Molecular genetics & genomic medicine 2020 1 8 (3): e1128. Ren Shumin, Chen Xiaojie, Kong Xiangdong, Chen Yibing, Wu Qinghua, Jiao Zhihui, Shi Huiro |
| Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6 23 (9): 1636-1647. Polubothu Satyamaanasa, Zecchin Davide, Al-Olabi Lara, Lionarons Daniël A, Harland Mark, Horswell Stuart, Thomas Anna C, Hunt Lilian, Wlodarchak Nathan, Aguilera Paula, Brand Sarah, Bryant Dale, Carrera Cristina, Chen Hui, Elgar Greg, Harwood Catherine A, Howell Michael, Larue Lionel, Loughlin Sam, MacDonald Jeff, Malvehy Josep, Barberan Sara Martin, da Silva Vanessa Martins, Molina Miriam, Morrogh Deborah, Moulding Dale, Nsengimana Jérémie, Pittman Alan, Puig-Butillé Joan-Anton, Parmar Kiran, Sebire Neil J, Scherer Stephen, Stadnik Paulina, Stanier Philip, Tell Gemma, Waelchli Regula, Zarrei Mehdi, Puig Susana, Bataille Véronique, Xing Yongna, Healy Eugene, Moore Gudrun E, Di Wei-Li, Newton-Bishop Julia, Downward Julian, Kinsler Veronica |
| NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
| Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing. Frontiers in neurology 2022 12 13 1026695. Sun Lianhua, Lin Zhengyu, Zhang Jifang, Shen Jiali, Wang Xiaowen, Yang J |
| Immune and Genomic Analysis of Boxer Dog Breed and Its Relationship with Leishmania infantum Infection. Veterinary sciences 2022 11 9 (11): . Álvarez Luis, Marín-García Pablo-Jesús, Rentero-Garrido Pilar, Llobat Lo |
| 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 |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| Variant ranking pipeline for complex familial disorders. Scientific reports 2024 6 14 (1): 13599. Sneha Ralli, Tariq Vira, Carla Daniela Robles-Espinoza, David J Adams, Angela R Brooks-Wils |
| Direct and indirect regulation of ?-glucocerebrosidase by the transcription factors USF2 and ONECUT2. NPJ Parkinson's disease 2024 10 10 (1): 192. Kathi Ging, Lukas Frick, Johannes Schlachetzki, Andrea Armani, Yanping Zhu, Pierre-André Gilormini, Ashutosh Dhingra, Desirée Böck, Ana Marques, Matthew Deen, Xi Chen, Tetiana Serdiuk, Chiara Trevisan, Stefano Sellitto, Claudio Pisano, Christopher K Glass, Peter Heutink, Jiang-An Yin, David J Vocadlo, Adriano Aguz |
- Page last reviewed:Feb 1, 2024
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