Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 35 Records) |
Query Trace: FOXC1[original query] |
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Polymorphic markers associated with severe oxaliplatin-induced, chronic peripheral neuropathy in colon cancer patients.
Cancer 2012 Jun 118 (11): 2828-36. Won Hong-Hee, Lee Jeeyun, Park Joon Oh, Park Young Suk, Lim Ho Yeong, Kang Won Ki, Kim Jong-Won, Lee Soo-Youn, Park Se Ho |
Common TGFß2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma. Molecular vision 2012 18 1526-39. Park Soo, Jamshidi Yalda, Vaideanu Daniela, Fraser Scott, Sowden Jane |
De novo copy number variants are associated with congenital diaphragmatic hernia. Journal of medical genetics 2012 Oct 49 (10): 650-9. Yu Lan, Wynn Julia, Ma Lijiang, Guha Saurav, Mychaliska George B, Crombleholme Timothy M, Azarow Kenneth S, Lim Foong Yen, Chung Dai H, Potoka Douglas, Warner Brad W, Bucher Brian, LeDuc Charles A, Costa Katherine, Stolar Charles, Aspelund Gudrun, Arkovitz Marc S, Chung Wendy |
Genetic polymorphisms associated with oxaliplatin-induced peripheral neurotoxicity in Japanese patients with colorectal cancer. International journal of clinical pharmacology and therapeutics 2013 Jun 51 (6): 475-81. Oguri Tomoyo, Mitsuma Ayako, Inada-Inoue Megumi, Morita Sachi, Shibata Takashi, Shimokata Tomoya, Sugishita Mihoko, Nakayama Goro, Uehara Keisuke, Hasegawa Yoshinori, Ando Yuic |
Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma. Molecular vision 2013 19 . Mohanty K, Tanwar M, Dada R, Dada T |
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. International journal of molecular medicine 2015 Oct 36 (4): 1111-7. Huang Xiaobo, Xiao Xueshan, Jia Xiaoyun, Li Shiqiang, Li Miaoling, Guo Xiangming, Liu Xing, Zhang Qingjio |
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences. European journal of human genetics : EJHG 2015 Jul . Medina-Trillo Cristina, Aroca-Aguilar José-Daniel, Méndez-Hernández Carmen-Dora, Morales Laura, García-Antón Maite, García-Feijoo Julián, Escribano Jul |
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.
Nature genetics 2016 Feb 48 (2): 189-94. Bailey Jessica N Cooke, Loomis Stephanie J, Kang Jae H, Allingham R Rand, Gharahkhani Puya, Khor Chiea Chuen, Burdon Kathryn P, Aschard Hugues, Chasman Daniel I, Igo Robert P, Hysi Pirro G, Glastonbury Craig A, Ashley-Koch Allison, Brilliant Murray, Brown Andrew A, Budenz Donald L, Buil Alfonso, Cheng Ching-Yu, Choi Hyon, Christen William G, Curhan Gary, De Vivo Immaculata, Fingert John H, Foster Paul J, Fuchs Charles, Gaasterland Douglas, Gaasterland Terry, Hewitt Alex W, Hu Frank, Hunter David J, Khawaja Anthony P, Lee Richard K, Li Zheng, Lichter Paul R, Mackey David A, McGuffin Peter, Mitchell Paul, Moroi Sayoko E, Perera Shamira A, Pepper Keating W, Qi Qibin, Realini Tony, Richards Julia E, Ridker Paul M, Rimm Eric, Ritch Robert, Ritchie Marylyn, Schuman Joel S, Scott William K, Singh Kuldev, Sit Arthur J, Song Yeunjoo E, Tamimi Rulla M, Topouzis Fotis, Viswanathan Ananth C, Verma Shefali Setia, Vollrath Douglas, Wang Jie Jin, Weisschuh Nicole, Wissinger Bernd, Wollstein Gadi, Wong Tien Y, Yaspan Brian L, Zack Donald J, Zhang Kang, Study Epic-Norfolk Eye, , Weinreb Robert N, Pericak-Vance Margaret A, Small Kerrin, Hammond Christopher J, Aung Tin, Liu Yutao, Vithana Eranga N, MacGregor Stuart, Craig Jamie E, Kraft Peter, Howell Gareth, Hauser Michael A, Pasquale Louis R, Haines Jonathan L, Wiggs Janey |
BRCA2 carriers with male breast cancer show elevated tumour methylation. BMC cancer 2017 9 17 (1): 641. Deb Siddhartha, Gorringe Kylie L, Pang Jia-Min B, Byrne David J, Takano Elena A, , Dobrovic Alexander, Fox Stephen |
[Genetic analysis of two cases with Dandy-Walker deformed fetus]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 10 34 (5): 666-670. Yao Juan, Fang Rong, Shen Xueping, Shen Guosong, Zhang |
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome. Current eye research 2018 6 43 (11): 1334-1341. Wang Xun, Liu Xing, Huang Liqin, Fang Shaohua, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangmi |
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. Molecular medicine reports 2018 6 18 (2): 1623-1627. Syrimis Andreas, Nicolaou Nayia, Alexandrou Angelos, Papaevripidou Ioannis, Nicolaou Michael, Loukianou Eleni, Sismani Carolina, Malas Stavros, Christophidou-Anastasiadou Violetta, Tanteles George |
A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome. Experimental and therapeutic medicine 2019 8 18 (3): 2255-2261. Wu Xing, Xie Hai-Nan, Wu Tong, Liu Wei, Chen Lan-Lam, Li Zhao-Hui, Wang Da-Jiang, Wang Yi, Huang Hou-B |
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome. Journal of ophthalmology 2019 7 2019 5642126. Huang Liqin, Meng Yong, Guo Xiangmi |
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study. Neurology 2019 11 93 (22): e2007-e2020. Tan Rhea Y Y, Traylor Matthew, Megy Karyn, Duarte Daniel, Deevi Sri V V, Shamardina Olga, Mapeta Rutendo P, , Ouwehand Willem H, Gräf Stefan, Downes Kate, Markus Hugh |
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genetics in medicine : official journal of the American College of Medical Genetics 2020 6 22 (10): 1673-1681. Wu Chen-Han Wilfred, Mann Nina, Nakayama Makiko, Connaughton Dervla M, Dai Rufeng, Kolvenbach Caroline M, Kause Franziska, Ottlewski Isabel, Wang Chunyan, Klämbt Verena, Seltzsam Steve, Lai Ethan W, Selvin Aravind, Senguttuva Prabha, Bodamer Olaf, Stein Deborah R, El Desoky Sherif, Kari Jameela A, Tasic Velibor, Bauer Stuart B, Shril Shirlee, Hildebrandt Friedhe |
Analysis of variants in Chinese individuals with primary open-angle glaucoma using molecular inversion probe (MIP)-based panel sequencing. Molecular vision 2020 26 378-391. Liu Ting, Tang Chao, Shi Xiaolo |
Genetic analysis of patients with primary congenital glaucoma. International ophthalmology 2021 Mar . Ava Sedat, Demirta? At?l?m Arma?an, Karahan Mine, Erdem Seyfettin, Oral Diclehan, Keklikçi U? |
Polymorphisms in Genes Involved in Osteoblast Differentiation and Function Are Associated with Anthropometric Phenotypes in Spanish Women. Genes 2021 12 12 (12): . Pertusa Clara, Ruzo Sofía P, Panach Layla, Mifsut Damián, Tarín Juan J, Cano Antonio, García-Pérez Miguel Áng |
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant. Journal of clinical medicine 2022 9 11 (17): . Skalicka Pavlina, Jedlickova Jana, Horinek Ales, Trkova Marie, Davidson Alice E, Tuft Stephen J, Dudakova Lubica, Liskova Pet |
Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort. Frontiers in genetics 2022 5 13 818241. Yi Tong, Sun Hairui, Fu Yuwei, Hao Xiaoyan, Sun Lin, Zhang Ye, Han Jiancheng, Gu Xiaoyan, Liu Xiaowei, Guo Yong, Wang Xin, Zhou Xiaoxue, Zhang Siyao, Yang Qi, Fan Jiaqi, He Yih |
TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondenceReply to "TXNRD2 (rs35934224) CT genotype and primary open-angle glaucoma: correspondence"Primary open-angle glaucomaGenome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucomaGenome-wide association study of primary open-angle glaucoma in continental and admixed African populations. Arquivos brasileiros de oftalmologia 2022 4 85 (2): 214-215. Sookaromdee Pathum, Wiwanitkit Vir |
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome. Experimental eye research 2022 11 226 109307. Zhou Lin, Wang Xiaoli, An Jingqi, Zhang Yao, He Mengxia, Tang |
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association. Journal of clinical medicine 2022 1 11 (1): . Stingl Julia V, Diederich Stefan, Diel Heidi, Schuster Alexander K, Wagner Felix M, Chronopoulos Panagiotis, Aghayeva Fidan, Grehn Franz, Winter Jennifer, Schweiger Susann, Hoffmann Esther |
Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing. Genomics 2023 7 115 (5): 110676. JiaJun Ye, Yiwei Niu, Yongxuan Peng, Jihong Huang, Huiying Wang, Qihua Fu, Fen Li, Rang Xu, Sun Chen, Yuejuan Xu, Kun S |
Primary open-angle glaucoma risk prediction with ABCA1 and LOC102723944 variants and their genotype-phenotype correlations in southern Chinese population. Molecular genetics and genomics : MGG 2023 7 . Zhenggen Wu, Chukai Huang, Yuqian Zheng, Xiang-Ling Yuan, Shaowan Chen, Yanxuan Xu, Li Jia Chen, Chi Pui Pang, Mingzhi Zhang, Tsz Kin |
Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma. Acta ophthalmologica 2023 4 . Liuska Perttu J, Tadji Abdessallam, Repo Pauliina, Hiltunen Juho, Backlund Michael, Järvinen Reetta-Stiina, Ojanen Eeva, Majander Anna, Kivelä Tero T, Harju Mika, Turunen Joni |
Pharmacogenetic association of the NR1H3 promoter variant with antihypertensive response among patients with hypertension: A longitudinal study. Frontiers in pharmacology 2023 3 14 1083134. Chen Yu, Han Yuqing, Wu Yiyi, Hui Rutai, Yang Yunyun, Zhong Yixuan, Zhang Shuyuan, Zhang Wei |
Molecular mechanisms of coronary artery disease risk at the PDGFD locus. bioRxiv : the preprint server for biology 2023 2 . Kim Hyun-Jung, Cheng Paul, Travisano Stanislao, Weldy Chad, Monteiro Jo O P, Kundu Ramendra, Nguyen Trieu, Sharma Disha, Shi Huitong, Lin Yi, Liu Boxiang, Haldar Saptarsi, Jackson Simon, Quertermous Thom |
Molecular mechanisms of coronary artery disease risk at the PDGFD locus. Nature communications 2023 2 14 (1): 847. Kim Hyun-Jung, Cheng Paul, Travisano Stanislao, Weldy Chad, Monteiro João P, Kundu Ramendra, Nguyen Trieu, Sharma Disha, Shi Huitong, Lin Yi, Liu Boxiang, Haldar Saptarsi, Jackson Simon, Quertermous Thom |
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