Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 62 Records) |
Query Trace: PDGFRB[original query] |
---|
Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy. Nature 2019 7 572 (7769): 335-340. Lee Jaecheol, Termglinchan Vittavat, Diecke Sebastian, Itzhaki Ilanit, Lam Chi Keung, Garg Priyanka, Lau Edward, Greenhaw Matthew, Seeger Timon, Wu Haodi, Zhang Joe Z, Chen Xingqi, Gil Isaac Perea, Ameen Mohamed, Sallam Karim, Rhee June-Wha, Churko Jared M, Chaudhary Rinkal, Chour Tony, Wang Paul J, Snyder Michael P, Chang Howard Y, Karakikes Ioannis, Wu Joseph |
[Characteristics of a patient with myeloid neoplasm and co-existence of t(7;11)(p15;p15) and t(5;12)(q33;p13) translocations]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 3 36 (3): 249-252. Zhang Xiuwen, Zhou Min, Chao Hongying, Jiang Naike, Lu Xuzhang, Jiang Yu, Zhang |
Identification of SLC20A2 deletions in patients with primary familial brain calcification. Clinical genetics 2019 3 96 (1): 53-60. Guo Xin-Xin, Su Hui-Zhen, Zou Xiao-Huan, Lai Lu-Lu, Lu Ying-Qian, Wang Chong, Li Yun-Lu, Hong Jing-Mei, Zhao Miao, Lin Kun-Xin, Lin Jie, Zeng Yi-Heng, Yao Xiang-Ping, Wang Ning, Chen Wan-J |
Goat PDGFRB: unique mRNA expression profile in gonad and significant association between genetic variation and litter size. Royal Society open science 2019 2 6 (1): 180805. Yang Wenjing, Yan Hailong, Wang Ke, Cui Yang, Zhou Tong, Xu Han, Zhu Haijing, Liu Jinwang, Lan Xianyong, Qu Lei, Pan Chuanying, Zhang Enpi |
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy.
American journal of human genetics 2019 Dec 105 (6): 1076-1090. Nath Artika P, Ritchie Scott C, Grinberg Nastasiya F, Tang Howard Ho-Fung, Huang Qin Qin, Teo Shu Mei, Ahola-Olli Ari V, Würtz Peter, Havulinna Aki S, Santalahti Kristiina, Pitkänen Niina, Lehtimäki Terho, Kähönen Mika, Lyytikäinen Leo-Pekka, Raitoharju Emma, Seppälä Ilkka, Sarin Antti-Pekka, Ripatti Samuli, Palotie Aarno, Perola Markus, Viikari Jorma S, Jalkanen Sirpa, Maksimow Mikael, Salmi Marko, Wallace Chris, Raitakari Olli T, Salomaa Veikko, Abraham Gad, Kettunen Johannes, Inouye Micha |
The Prognostic Significance of Low-Frequency Somatic Mutations in Metastatic Cutaneous Melanoma. Frontiers in oncology 2019 1 8 584. Zhao Xiaobei, Little Paul, Hoyle Alan P, Pegna Guillaume J, Hayward Michele C, Ivanova Anastasia, Parker Joel S, Marron David L, Soloway Matthew G, Jo Heejoon, Salazar Ashley H, Papakonstantinou Michael P, Bouchard Deeanna M, Jefferys Stuart R, Hoadley Katherine A, Ollila David W, Frank Jill S, Thomas Nancy E, Googe Paul B, Ezzell Ashley J, Collichio Frances A, Lee Carrie B, Earp H Shelton, Sharpless Norman E, Hugo Willy, Wilmott James S, Quek Camelia, Waddell Nicola, Johansson Peter A, Thompson John F, Hayward Nicholas K, Mann Graham J, Lo Roger S, Johnson Douglas B, Scolyer Richard A, Hayes D Neil, Moschos Stergios |
Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia. Frontiers in oncology 2020 8 10 1184. Lejman Monika, W?odarczyk Monika, Styka Borys, Pastorczak Agata, Zawitkowska Joanna, Taha Joanna, S?dek ?ukasz, Skonieczka Katarzyna, Braun Marcin, Haus Olga, Szczepa?ski Tomasz, M?ynarski Wojciech, Kowalczyk Jerzy |
Integrative Analysis of Pleomorphic Dermal Sarcomas Reveals Fibroblastic Differentiation and Susceptibility to Immunotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 8 26 (21): 5638-5645. Klein Sebastian, Quaas Alexander, Noh Ka-Won, Cartolano Maria, Abedpour Nima, Mauch Cornelia, Quantius Jennifer, Reinhardt Hans Christian, Buettner Reinhard, Peifer Martin, Helbig Dor |
The Somatic Mutation Landscape and RNA Prognostic Markers in Stomach Adenocarcinoma. OncoTargets and therapy 2020 8 13 7735-7746. Zhang Xiulei, Zheng Peiming, Li Zhen, Gao Shanjun, Liu Guangz |
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. American journal of medical genetics. Part A 2020 6 182 (7): 1576-1591. Wenger Tara L, Bly Randall A, Wu Natalie, Albert Catherine M, Park Julie, Shieh Joseph, Chenbhanich Jirat, Heike Carrie L, Adam Margaret P, Chang Irene, Sun Angela, Miller Danny E, Beck Anita E, Gupta Deepti, Boos Markus D, Zackai Elaine H, Everman David, Ganapathi Shireen, Wilson Meredith, Christodoulou John, Zarate Yuri A, Curry Cynthia, Li Dong, Guimier Anne, Amiel Jeanne, Hakonarson Hakon, Webster Richard, Bhoj Elizabeth J, Perkins Jonathan A, Dahl John P, Dobyns William |
PHACTR1 is associated with disease progression in Chinese Moyamoya disease. PeerJ 2020 5 8 e8841. Yang Yongbo, Wang Jian, Liang Qun, Wang Yi, Chen Xinhua, Zhang Qingrong, Na Shijie, Liu Yi, Yan Ting, Hang Chunhua, Zhu Yich |
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. Neurology. Genetics 2020 3 6 (2): e399. Chelban Viorica, Carecchio Miryam, Rea Gillian, Bowirrat Abdalla, Kirmani Salman, Magistrelli Luca, Efthymiou Stephanie, Schottlaender Lucia, Vandrovcova Jana, Salpietro Vincenzo, Salsano Ettore, Pareyson Davide, Chiapparini Luisa, Jan Farida, Ibrahim Shahnaz, Khan Fatima, Qarnain Zul, Groppa Stanislav, Bajaj Nin, Balint Bettina, Bhatia Kailash P, Lees Andrew, Morrison Patrick J, Wood Nicholas W, Garavaglia Barbara, Houlden Hen |
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease.
European journal of human genetics : EJHG 2020 Oct . Ruotsalainen Sanni E, Partanen Juulia J, Cichonska Anna, Lin Jake, Benner Christian, Surakka Ida, , Reeve Mary Pat, Palta Priit, Salmi Marko, Jalkanen Sirpa, Ahola-Olli Ari, Palotie Aarno, Salomaa Veikko, Daly Mark J, Pirinen Matti, Ripatti Samuli, Koskela Juk |
MYORG Mutation Heterozygosity Is Associated With Brain Calcification. Movement disorders : official journal of the Movement Disorder Society 2020 1 35 (4): 679-686. Chen You, Cen Zhidong, Chen Xinhui, Wang Haotian, Chen Si, Yang Dehao, Fu Feng, Wang Lebo, Liu Peng, Wu Hongwei, Zheng Xiaosheng, Xie Fei, Ouyang Zhiyuan, Zhang Yun, Zhou Yongji, Huang Xuerong, Wang Feng, Huang Guangsu, An Hongwei, Liang Yubing, Hong Weijun, Wang Anli, Huang Shuangling, Chen Wenhai, Yin Lili, Yang Yan, Huang Huayun, Zeng Ruxin, Zhao Na, Jiang Biao, Zhang Baorong, Luo Wei, |
Philadelphia chromosome-negative B-cell acute lymphoblastic leukaemia with kinase fusions in Taiwan. Scientific reports 2021 3 11 (1): 5802. Hsu Yin-Chen, Yu Chih-Hsiang, Chen Yan-Ming, Roberts Kathryn G, Ni Yu-Ling, Lin Kai-Hsin, Jou Shiann-Tarng, Lu Meng-Yao, Chen Shu-Huey, Wu Kang-Hsi, Chang Hsiu-Hao, Lin Dong-Tsamn, Lin Shu-Wha, Lin Ze-Shiang, Chiu Wei-Tzu, Chang Chia-Ching, Ho Bing-Ching, Mullighan Charles G, Yu Sung-Liang, Yang Yung- |
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma. Acta neurochirurgica 2021 11 164 (2): 343-352. Håvik Aril Løge, Bruland Ove, Miletic Hrvoje, Poulsgaard Lars, Scheie David, Fugleholm Kåre, Lund-Johansen Morten, Knappskog Per-Mort |
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways. Blood advances 2021 10 6 (2): 637-651. Witte Hanno M, Künstner Axel, Hertel Nadine, Bernd Heinz-Wolfram, Bernard Veronica, Stölting Stephanie, Merz Hartmut, von Bubnoff Nikolas, Busch Hauke, Feller Alfred C, Gebauer Nikl |
Fibroblast subsets in non-small cell lung cancer: Associations with survival, mutations, and immune features. Journal of the National Cancer Institute 2022 Sep . Pellinen Teijo, Paavolainen Lassi, Martín-Bernabé Alfonso, Papatella Araujo Renata, Strell Carina, Mezheyeuski Artur, Backman Max, La Fleur Linnea, Brück Oscar, Sjölund Jonas, Holmberg Erik, Välimäki Katja, Brunnström Hans, Botling Johan, Moreno-Ruiz Pablo, Kallioniemi Olli, Micke Patrick, Östman Ar |
Functional analysis of HECA variants identified in congenital heart disease in the Chinese population. Journal of clinical laboratory analysis 2022 8 36 (9): e24649. Li Ting, Wu Yao, Chen Wei-Cheng, Xue Xing, Suo Mei-Jiao, Li Ping, Sheng Wei, Huang Guo-Yi |
Association between germline variants and somatic mutations in colorectal cancer. Scientific reports 2022 Jun 12 (1): 10207. Barfield Richard, Qu Conghui, Steinfelder Robert S, Zeng Chenjie, Harrison Tabitha A, Brezina Stefanie, Buchanan Daniel D, Campbell Peter T, Casey Graham, Gallinger Steven, Giannakis Marios, Gruber Stephen B, Gsur Andrea, Hsu Li, Huyghe Jeroen R, Moreno Victor, Newcomb Polly A, Ogino Shuji, Phipps Amanda I, Slattery Martha L, Thibodeau Stephen N, Trinh Quang M, Toland Amanda E, Hudson Thomas J, Sun Wei, Zaidi Syed H, Peters Ulri |
Germline Variants in Angiogenesis-Related Genes Contribute to Clinical Outcome in Head and Neck Squamous Cell Carcinoma. Cancers 2022 4 14 (7): . Butkiewicz Dorota, Gdowicz-K?osok Agnieszka, Krze?niak Ma?gorzata, Rutkowski Tomasz, ?asut-Szyszka Barbara, Sk?adowski Krzyszt |
Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds. Journal of the American Heart Association 2022 Feb 11 (4): e024289. Parada Carolina A, El-Ghazali Fatima M, Toglia Daphne, Ruzevick Jacob, McAvoy Malia, Emerson Samuel, Karasozen Yigit, Busald Tina, Nazem Ahmad A, Suranowitz Shaun M, Shalhub Sherene, Marshall Desiree A, Gonzalez-Cuyar Luis F, Dorschner Michael O, Ferreira Manu |
Polymorphic Variants of the PDGFRB Gene Influence Efficacy of PRP Therapy in Treating Tennis Elbow: A Prospective Cohort Study. Journal of clinical medicine 2022 11 11 (21): . Szyluk Karol, Jarosz Alicja, Balcerzyk-Mati? Anna, Iwanicka Joanna, Iwanicki Tomasz, Nowak Tomasz, Gierek Marcin, Negru Marius, Kalita Marcin, Górczy?ska-Kosiorz Sylwia, Kania Wojciech, Niemiec Paw |
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum. Human genetics 2022 1 141 (8): 1371-1383. Zheng Yu, Zhu Guanghui, Liu Yaoxi, Zhao Weihua, Yang Yongjia, Luo Zhenqing, Fu Yuyan, Mei Haibo, Hu Zhengm |
Genomic Diagnoses for Ectopic Intracerebral Calcifications. Neurology. Genetics 2023 8 9 (5): e200083. Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo To |
Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: reevaluation of the defining characteristics in a registry-based cohort. Leukemia 2023 7 . Georgia Metzgeroth, Laurenz Steiner, Nicole Naumann, Johannes Lübke, Sebastian Kreil, Alice Fabarius, Claudia Haferlach, Torsten Haferlach, Wolf-Karsten Hofmann, Nicholas C P Cross, Juliana Schwaab, Andreas Reit |
High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 2 36 (5): 100104. Dermawan Josephine K, Chiang Sarah, Hensley Martee L, Tap William D, Antonescu Cristina |
Whole-exome sequencing reveals the genomic profile and IL6ST mutations as a prognostic biomarker of paraneoplastic pemphigus associated unicentric Castleman disease. The Journal of investigative dermatology 2023 10 . Sai Wang, Rui Wang, Panpan Shang, Xuejun Zhu, Xixue Chen, Guohong Zhang, Mingyue Wa |
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene. Journal of human genetics 2023 1 . van de Beek Irma, Glykofridis Iris E, Tanck Michael W T, Luijten Monique N H, Starink Theo M, Balk Jesper A, Johannesma Paul C, Hennekam Eric, van den Hoff Maurice J B, Gunst Quinn D, Gille Johan J P, Polstra Abeltje M, Postmus Pieter E, van Steensel Maurice A M, Postma Alex V, Wolthuis Rob M F, Menko Fred H, Houweling Arjan C, Waisfisz Quint |
Molecular Biomarker Exploration of Rituximab plus CHOP Therapy in Real-World Diffuse Large B-Cell Lymphoma Patients. Clinical laboratory 2023 1 69 (1): . Wang HongBiao, Lin YingCheng, Li ZhiFeng, Wu YueRong, Yang ZhengYuan, Gao ShiHua, Lin FangFa |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: