Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 56 Records) |
| Query Trace: JAG1[original query] |
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| Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome. Acta paediatrica (Oslo, Norway : 1992) 2017 Jul . Ohashi Kei, Togawa Takao, Sugiura Tokio, Ito Koichi, Endo Takeshi, Aoyama Kohei, Negishi Yutaka, Kudo Toyoichiro, Ito Reiko, Saitoh Shin |
| Kras upregulates Notch signaling to induce gallbladder tumorigenesis in mice. Oncoscience 2017 Sep 4 (9-10): 131-138. Chung Wen-Cheng, Wang Junqing, Zhou Yunyun, Xu Ke |
| 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 Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2018 2 55 (3): 375-382. Gilbert James R, Taylor Gwen M, Losee Joseph E, Mooney Mark P, Cooper Gregory |
| JAG1, MEF2C and BDNF polymorphisms associated with bone mineral density in women from Northern México. Biomedica : revista del Instituto Nacional de Salud 2018 09 38 (3): 320-328. González-Peña Sandra Marlen, Campos-Góngora Eduardo, Ávila-Rodríguez Hilda Guadalupe, Ramírez-López Erik, Velázquez-Cruz Rafael, Jiménez-Salas Zacarí |
| 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 |
| PITX2 and NEURL1 SNP polymorphisms in Hungarian atrial fibrillation patients determined by quantitative real-time PCR and melting curve analysis. Journal of biotechnology 2019 Apr 299 44-49. Szirák Krisztina, Soltész Beáta, Hajas Orsolya, Urbancsek Réka, Nagy-Baló Edina, Penyige András, Csanádi Zoltán, Nagy Báli |
| Association of JAG1 gene polymorphism with systemic blood pressure in patients with obstructive sleep apnea: a prospective cohort study. Croatian medical journal 2019 Oct 60 (5): 421-430. Parani?ová Ivana, Habalová Viera, Klim?áková Lucia, Trojová Ivana, Židzik Jozef, Tká? Ivan, Tká?ová Ružena, Joppa Pav |
| Polymorphisms in the Angiogenesis-Related Genes EFNB2, MMP2 and JAG1 Are Associated with Survival of Colorectal Cancer Patients. International journal of molecular sciences 2020 Jul 21 (15): . Scherer Dominique, Deutelmoser Heike, Balavarca Yesilda, Toth Reka, Habermann Nina, Buck Katharina, Kap Elisabeth Johanna, Botma Akke, Seibold Petra, Jansen Lina, Lorenzo Bermejo Justo, Weigl Korbinian, Benner Axel, Hoffmeister Michael, Ulrich Alexis, Brenner Hermann, Burwinkel Barbara, Chang-Claude Jenny, Ulrich Cornelia |
| Identification of Genetic Factors Underlying the Association between Sodium Intake Habits and Hypertension Risk. Nutrients 2020 8 12 (9): . Kwon Yu-Jin, Kim Jung Oh, Park Jae-Min, Choi Ja-Eun, Park Da-Hyun, Song Youhyun, Kim Seong-Jin, Lee Ji-Won, Hong Kyung-W |
| 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 |
| Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians. Oncogene 2020 4 39 (21): 4299-4311. Yadav Santosh, Anbalagan Muralidharan, Baddoo Melody, Chellamuthu Vinodh K, Mukhopadhyay Sudurika, Woods Carol, Jiang Wei, Moroz Krzysztof, Flemington Erik K, Makridakis Ni |
| A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS genetics 2020 Nov 16 (11): e1008802. Tcheandjieu Catherine, Aguirre Matthew, Gustafsson Stefan, Saha Priyanka, Potiny Praneetha, Haendel Melissa, Ingelsson Erik, Rivas Manuel A, Priest James |
| Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism. Head & face medicine 2021 May 17 (1): 17. Han Xianzhuo, Xiong Xueyan, Shi Xiujuan, Chen Fengshan, Li Yongmi |
| Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism. Endocrine 2022 9 79 (1): 125-134. Li Liangshan, Li Xiaole, Wang Xiaoyu, Han Mengmeng, Zhao Dehua, Wang Fang, Liu Shig |
| 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 |
| Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan. Frontiers in cardiovascular medicine 2022 9 911649. Liang Kae-Woei, Chang Sheng-Kai, Chen Yu-Wei, Lin Wei-Wen, Tsai Wan-Jane, Wang Kuo-Ya |
| Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 2022 Jul . D?browska Justyna, Biedziak Barbara, Szponar-?urowska Anna, Budner Margareta, Jagodzi?ski Pawe? P, P?oski Rafa?, Mostowska Adrian |
| 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 |
| Association of Circulating Cathepsin B Levels With Blood Pressure and Aortic Dilation. Frontiers in cardiovascular medicine 2022 4 9 762468. Chai Tianci, Tian Mengyue, Yang Xiaojie, Qiu Zhihuang, Lin Xinjian, Chen Liangw |
| 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 |
| Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease. International journal of molecular sciences 2023 7 24 (14): . Natalia Semenova, Elena Kamenets, Eleonora Annenkova, Andrey Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharo |
| Genetic background and clinical characteristics of infantile hyperammonemia. Translational pediatrics 2023 6 12 (5): 882-889. Mengyao Li, Xiang Chen, Huiyao Chen, Liyuan Hu, Yun Cao, Guoqiang Cheng, Laishuan Wang, Bingbing Wu, Wei Lu, Lin Yang, Wenhao Zh |
| Association analysis and functional follow-up identified common variants of JAG1 accounting for risk to biliary atresia. Frontiers in genetics 2023 5 14 1186882. Mei-Rong Bai, Hao-Yue Pei, Ying Zhou, Huan-Lei Song, Wei-Hua Pan, Yi-Ming Gong, Wen-Jie Wu, Wen-Wen Yu, Meng-Meng Cui, Bei-Lin Gu, Xun Chu, Wei C |
| Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. Heliyon 2023 11 9 (11): e21546. Bin Liang, Fang Yang, Hailong Huang, Zhaozhen Liu, Qingqiang Ji, Yan Wang, Xiaoqing Wu, Yuan Lin, Lanting Xie, Wantong Zhao, Hua Cao, Liangpu Xu, Na L |
| Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies. Pediatric research 2024 1 . Gustavo D Dangoni, Anne Caroline B Teixeira, Silvia S da Costa, Marília O Scliar, Laura M L Carvalho, Luciana N Silva, Estela M Novak, Carolina S C Vince, Mariana C Maschietto, Sofia M M Sugayama, Vicente Odone-Filho, Ana Cristina V Krepisc |
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