Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and JAG1[original query] |
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| De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nature genetics 2009 Aug 41 (8): 931-5. Greenway Steven C, Pereira Alexandre C, Lin Jennifer C, DePalma Steven R, Israel Samuel J, Mesquita Sonia M, Ergul Emel, Conta Jessie H, Korn Joshua M, McCarroll Steven A, Gorham Joshua M, Gabriel Stacey, Altshuler David M, Quintanilla-Dieck Maria de Lourdes, Artunduaga Maria Alexandra, Eavey Roland D, Plenge Robert M, Shadick Nancy A, Weinblatt Michael E, De Jager Philip L, Hafler David A, Breitbart Roger E, Seidman Jonathan G, Seidman Christine |
| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani |
| A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC medical genetics 2012 13 (1): 5. Png Eileen, Alisjahbana Bachti, Sahiratmadja Edhyana, Marzuki Sangkot, Nelwan Ron, Balabanova Yanina, Nikolayevskyy Vladyslav, Drobniewski Francis, Nejentsev Sergey, Adnan Iskandar, van de Vosse Esther, Hibberd Martin L, van Crevel Reinout, Ottenhoff Tom H M, Seielstad Ma |
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
Human molecular genetics 2015 Feb 24 (3): 865-74. Lu Xiangfeng, Wang Laiyuan, Lin Xu, Huang Jianfeng, Charles Gu C, He Meian, Shen Hongbing, He Jiang, Zhu Jingwen, Li Huaixing, Hixson James E, Wu Tangchun, Dai Juncheng, Lu Ling, Shen Chong, Chen Shufeng, He Lin, Mo Zengnan, Hao Yongchen, Mo Xingbo, Yang Xueli, Li Jianxin, Cao Jie, Chen Jichun, Fan Zhongjie, Li Ying, Zhao Liancheng, Li Hongfan, Lu Fanghong, Yao Cailiang, Yu Lin, Xu Lihua, Mu Jianjun, Wu Xianping, Deng Ying, Hu Dongsheng, Zhang Weidong, Ji Xu, Guo Dongshuang, Guo Zhirong, Zhou Zhengyuan, Yang Zili, Wang Renping, Yang Jun, Zhou Xiaoyang, Yan Weili, Sun Ningling, Gao Pingjin, Gu Dongfe |
| Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
Human molecular genetics 2014 Oct 23 (20): 5545-57. Rafnar Thorunn, Sulem Patrick, Thorleifsson Gudmar, Vermeulen Sita H, Helgason Hannes, Saemundsdottir Jona, Gudjonsson Sigurjon A, Sigurdsson Asgeir, Stacey Simon N, Gudmundsson Julius, Johannsdottir Hrefna, Alexiusdottir Kristin, Petursdottir Vigdis, Nikulasson Sigfus, Geirsson Gudmundur, Jonsson Thorvaldur, Aben Katja K H, Grotenhuis Anne J, Verhaegh Gerald W, Dudek Aleksandra M, Witjes J Alfred, van der Heijden Antoine G, Vrieling Alina, Galesloot Tessel E, De Juan Ana, Panadero Angeles, Rivera Fernando, Hurst Carolyn, Bishop D Timothy, Sak Sei C, Choudhury Ananya, Teo Mark T W, Arici Cecilia, Carta Angela, Toninelli Elena, de Verdier Petra, Rudnai Peter, Gurzau Eugene, Koppova Kvetoslava, van der Keur Kirstin A, Lurkin Irene, Goossens Mieke, Kellen Eliane, Guarrera Simonetta, Russo Alessia, Critelli Rossana, Sacerdote Carlotta, Vineis Paolo, Krucker Clémentine, Zeegers Maurice P, Gerullis Holger, Ovsiannikov Daniel, Volkert Frank, Hengstler Jan G, Selinski Silvia, Magnusson Olafur T, Masson Gisli, Kong Augustine, Gudbjartsson Daniel, Lindblom Annika, Zwarthoff Ellen, Porru Stefano, Golka Klaus, Buntinx Frank, Matullo Giuseppe, Kumar Rajiv, Mayordomo José I, Steineck D Gunnar, Kiltie Anne E, Jonsson Eirikur, Radvanyi François, Knowles Margaret A, Thorsteinsdottir Unnur, Kiemeney Lambertus A, Stefansson Ka |
| Analysis of association of MEF2C, SOST and JAG1 genes with bone mineral density in Mexican-Mestizo postmenopausal women. BMC musculoskeletal disorders 2014 15 400. Velázquez-Cruz Rafael, Jiménez-Ortega Rogelio F, Parra-Torres Alma Y, Castillejos-López Manuel, Patiño Nelly, Quiterio Manuel, Villarreal-Molina Teresa, Salmerón Jor |
| Relation of JAGGED 1 and collagen type 1 alpha 1 polymorphisms with bone mineral density in Chinese postmenopausal women. International journal of clinical and experimental pathology 2014 7 (10): 7142-7. Zhang Li-Qin, Liu Hua, Huang Xian-Fe |
| Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis. Hepatology research : the official journal of the Japan Society of Hepatology 2015 Jun . Goldschmidt Monique L, Mourya Reena, Connor Jessica, Dexheimer Phillip, Karns Rebekah, Miethke Alexander, Sheridan Rachel, Zhang Kejian, Bezerra Jorge |
| Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population. Meta gene 2014 Dec 2 32-40. Vázquez-Martínez Edgar Ricardo, Varela-Fascinetto Gustavo, García-Delgado Constanza, Rodríguez-Espino Benjamín Antonio, Sánchez-Boiso Adriana, Valencia-Mayoral Pedro, Heller-Rosseau Solange, Pelcastre-Luna Erika Lisselly, Zenteno Juan C, Cerbón Marco, Morán-Barroso Verónica Fabio |
| Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. Human molecular genetics 2016 Sep . Hsu Yi-Hsiang, Li Guo, Liu Ching-Ti, Brody Jennifer A, Karasik David, Chou Wen-Chi, Demissie Serkalem, Nandakumar Kannabiran, Zhou Yanhua, Cheng Chia-Ho, Gill Richard, Gibbs Richard A, Muzny Donna, Santibanez Jireh, Estrada Karol, Rivadeneira Fernando, Harris Tamara, Gudnason Vilmundur, Uitterlinden Andre, Psaty Bruce M, Robbins John A, Adrienne Cupples L, Kiel Douglas |
| Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. PLoS genetics 2016 Oct 12 (10): e1006335. Preuss Christoph, Capredon Melanie, Wünnemann Florian, Chetaille Philippe, Prince Andrea, Godard Beatrice, Leclerc Severine, Sobreira Nara, Ling Hua, Awadalla Philip, Thibeault Maryse, Khairy Paul, , Samuels Mark E, Andelfinger Greg |
| Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis. BMC medical genomics 2017 Apr 10 (1): 22. Cheng Guo, Chung Patrick Ho-Yu, Chan Edwin Kin-Wai, So Man-Ting, Sham Pak-Chung, Cherny Stacey S, Tam Paul Kwong-Hang, Garcia-Barceló Maria-Mer |
| THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome.
Cellular and molecular gastroenterology and hepatology 2016 Sep 2 (5): 663-675.e2. Tsai Ellen A, Gilbert Melissa A, Grochowski Christopher M, Underkoffler Lara A, Meng He, Zhang Xiaojie, Wang Michael M, Shitaye Hailu, Hankenson Kurt D, Piccoli David, Lin Henry, Kamath Binita M, Devoto Marcella, Spinner Nancy B, Loomes Kathleen |
| Alagille Syndrome. Clinics in liver disease 2018 9 22 (4): 625-641. Mitchell Ellen, Gilbert Melissa, Loomes Kathleen |
| [Association between polymorphism in notch signaling pathway and lung cancer risk]. Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2018 Mar 52 (3): 243-252. Xu Q P, Xiao R D, Xiong W M, He F, Cai |
| Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot. Cellular and molecular biology (Noisy-le-Grand, France) 2018 Mar 64 (4): 103-107. Safari-Arababadi Amin, Behjati-Ardakani Mostafa, Kalantar Seyed Mehdi, Jaafarinia Mojta |
| Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ?43% of 35 Families With Midaortic Syndrome. Hypertension (Dallas, Tex. : 1979) 2018 2 71 (4): 691-699. Warejko Jillian K, Schueler Markus, Vivante Asaf, Tan Weizhen, Daga Ankana, Lawson Jennifer A, Braun Daniela A, Shril Shirlee, Amann Kassaundra, Somers Michael J G, Rodig Nancy M, Baum Michelle A, Daouk Ghaleb, Traum Avram Z, Kim Heung Bae, Vakili Khashayar, Porras Diego, Lock James, Rivkin Michael J, Chaudry Gulraiz, Smoot Leslie B, Singh Michael N, Smith Edward R, Mane Shrikant M, Lifton Richard P, Stein Deborah R, Ferguson Michael A, Hildebrandt Friedhe |
| Molecular findings in children with inherited intrahepatic cholestasis. Pediatric research 2019 Aug . Wang Neng-Li, Lu Yi, Gong Jing-Yu, Xie Xin-Bao, Lin Jing, Abuduxikuer Kuerbanjiang, Zhang Mei-Hong, Wang Jian-S |
| Positive Association of the JAG1 rs1327235 Genotype with Coronary Artery Disease in Men, the Tampere Adult Population Cardiovascular Risk Study. Genetic testing and molecular biomarkers 2020 7 24 (10): 681-684. Kunnas Tarja, Nikkari Seppo |
| Mutation spectrum in a cohort with familial exudative vitreoretinopathy. Molecular genetics & genomic medicine 2022 Jul e2021. Qu Ning, Li Wei, Han Dong-Ming, Gao Jia-Yu, Yang Zheng-Tao, Jiang Li, Liu Tian-Bin, Chen Yan-Xian, Jiang Xiao-Sen, Zhou Liang, Wu Ji-Hong, Huang X |
| High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects. American journal of medical genetics. Part A 2022 4 188 (7): 2082-2095. Munabi Naikhoba C O, Mikhail Shady, Toubat Omar, Webb Michelle, Auslander Allyn, Sanchez-Lara Pedro A, Manojlovic Zarko, Schmidt Ryan J, Craig David, Magee William P, Kumar Subramanyan R |
| Update on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy. Genes 2022 4 13 (4): . Wang You, Zhang Zhaotian, Huang Li, Sun Limei, Li Songshan, Zhang Ting, Ding Xiaoy |
| Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course. JGH open : an open access journal of gastroenterology and hepatology 2022 12 6 (12): 839-845. Chiang Che-Ming, Jeng Yung-Ming, Ho Ming-Chih, Lai Ming-Wei, Li Huei-Ying, Chen Pei-Lung, Lee Ni-Chung, Wu Jia-Feng, Chiu Yu-Chun, Liou Bang-Yu, Ni Yen-Hsuan, Hsu Hong-Yuan, Chang Mei-Hwei, Chen Huey-Li |
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