Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: DNAH11[original query] |
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Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. Frontiers in genetics 2019 10 749. Yue Yongjian, Huang Qijun, Zhu Peng, Zhao Pan, Tan Xinjuan, Liu Shengguo, Li Shulin, Han Xuemei, Cheng Linling, Li Bo, Fu Yingy |
Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients. Bioscience reports 2019 6 39 (6): . Zhu Dongliang, Zhang Hongguo, Wang Ruixue, Liu Xiaojun, Jiang Yuting, Feng Tao, Liu Ruizhi, Zhang Guiro |
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. Journal of medical genetics 2019 12 57 (5): 322-330. Fassad Mahmoud R, Patel Mitali P, Shoemark Amelia, Cullup Thomas, Hayward Jane, Dixon Mellisa, Rogers Andrew V, Ollosson Sarah, Jackson Claire, Goggin Patricia, Hirst Robert A, Rutman Andrew, Thompson James, Jenkins Lucy, Aurora Paul, Moya Eduardo, Chetcuti Philip, O'Callaghan Chris, Morris-Rosendahl Deborah J, Watson Christopher M, Wilson Robert, Carr Siobhan, Walker Woolf, Pitno Andreia, Lopes Susana, Morsy Heba, Shoman Walaa, Pereira Luisa, Constant Carolina, Loebinger Michael R, Chung Eddie M K, Kenia Priti, Rumman Nisreen, Fasseeh Nader, Lucas Jane S, Hogg Claire, Mitchison Hannah |
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Pediatric pulmonology 2019 11 55 (2): 383-393. Emiralio?lu Nagehan, Ta?k?ran Ekim Z, Ko?ukcu Can, Bilgiç Elif, Atilla Pergin, Kaya Bengisu, Günayd?n Önder, Yüzba??o?lu Ay?e, Tu?cu Gökçen Dil?a, Ademhan Dilber, Ery?lmaz Polat Sanem, Gharibzadeh H?zal Mina, Yalç?n Ebru, Do?ru Deniz, Kiper Nural, Alika?ifo?lu Mehmet, Özçelik U? |
Genetic variants of DNAH11 and LRFN2 genes and their association with ovarian and breast cancer. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2019 Oct . Verma Sonali, Bakshi Divya, Sharma Varun, Sharma Indu, Shah Ruchi, Bhat Amrita, Bhat Ghulam Rasool, Sharma Bhanu, Wakhloo Ajay, Kaul Sandeep, Heer Vikas, Bhat Audesh, Abrol Deepak, Verma Vijeshwar, Kumar Rake |
Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients. Molecular biology reports 2020 9 47 (9): 6507-6516. Ben Kridis-Rejeb Wala, Ben Ayed-Guerfali Dorra, Ammous-Boukhris Nihel, Ayadi Wajdi, Kifagi Chamseddine, Charfi Slim, Saguem Ines, Sellami-Boudawara Tahia, Daoud Jamel, Khanfir Afef, Mokdad-Gargouri Ra |
A Combination of Single Nucleotide Polymorphisms is Associated with the Interindividual Variability of Cholesterol Bioavailability in Healthy Adult Males. Molecular nutrition & food research 2020 9 64 (22): e2000480. Desmarchelier Charles, Wolff Estelle, Defoort Catherine, Nowicki Marion, Morange Pierre-Emmanuel, Alessi Marie-Christine, Valéro René, Nicolay Alain, Lairon Denis, Borel Patri |
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. The Journal of pediatrics 2020 6 225 157-165.e5. Guo Zhuoyao, Chen Weicheng, Wang Libo, Qian Lili |
DNAH11 rs12670798 variant and G × E interactions on serum lipid levels, coronary heart disease, ischemic stroke and the lipid-lowering efficacy of atorvastatin. International journal of clinical and experimental pathology 2020 1 10 (11): 11147-11158. Shen Shao-Wen, Yin Rui-Xing, Huang Feng, Wu Jin-Zhen, Cao Xiao-Li, Chen Wu-Xi |
The association between the DNAH11 rs10248618 SNP and serum lipid traits, the risk of coronary artery disease, and ischemic stroke. International journal of clinical and experimental pathology 2020 1 11 (9): 4585-4594. Zhou Yong-Gang, Yin Rui-Xing, Wu Jie, Zhang Qing-Hui, Chen Wu-Xian, Cao Xiao- |
The Relationship between Genotype and Phenotype in Primary Ciliary Dyskinesia Patients. Sisli Etfal Hastanesi tip bulteni 2021 55 (2): 188-192. Kilinc Ayse Ayzit, Cebi Memnune Nur, Ocak Zeynep, Cokugras Haluk Cez |
Whole exome and transcriptome sequencing reveal clonal evolution and exhibit immune-related features in metastatic colorectal tumors. Cell death discovery 2021 8 7 (1): 222. Li Chunxue, Xu Juan, Wang Xiangfeng, Zhang Chao, Yu Zicheng, Liu Jiucheng, Tai Zaixian, Luo Ziwen, Yi Xin, Zhong Zhaoya |
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility. Minerva endocrinology 2021 5 47 (1): 4-10. Precone Vincenza, Notarangelo Angelantonio, Marceddu Giuseppe, D'Agruma Leonardo, Cannarella Rossella, Calogero Aldo E, Cristofoli Francesca, Guerri Giulia, Paolacci Stefano, Castori Marco, Bertelli Matt |
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia. Annals of the American Thoracic Society 2021 3 18 (6): 963-970. Pifferi Massimo, Bush Andrew, Mulé Giuseppe, Gracci Serena, Fonnesu Rossella, Michelucci Angela, Cangiotti Angela, Caligo Maria Adelaide, Miccoli Mario, Boner Attilio L, Peroni Die |
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence. Human mutation 2021 Mar . Yiallouros Panayiotis K, Kouis Panayiotis, Kyriacou Kyriacos, Evriviadou Aigli, Anagnostopoulou Pinelopi, Matthaiou Andreas, Tsiolakis Ioannis, Pirpa Panayiota, Michailidou Kyriaki, Potamiti Louiza, Loizidou Maria A, Hadjisavvas Andre |
Mucin 4 mutation is associated with tumor mutation burden and promotes antitumor immunity in colon cancer patients. Aging 2021 Mar 13 (6): 9043-9055. Peng Linglong, Li Yang, Gu Haitao, Xiang Ling, Xiong Yongfu, Wang Rong, Zhou He, Wang Jiji |
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel. Frontiers in endocrinology 2020 11 605237. Precone Vincenza, Cannarella Rossella, Paolacci Stefano, Busetto Gian Maria, Beccari Tommaso, Stuppia Liborio, Tonini Gerolamo, Zulian Alessandra, Marceddu Giuseppe, Calogero Aldo E, Bertelli Matt |
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. The European respiratory journal 2021 1 58 (2): . Shoemark Amelia, Rubbo Bruna, Legendre Marie, Fassad Mahmoud R, Haarman Eric G, Best Sunayna, Bon Irma C M, Brandsma Joost, Burgel Pierre-Regis, Carlsson Gunnar, Carr Siobhan B, Carroll Mary, Edwards Matt, Escudier Estelle, Honoré Isabelle, Hunt David, Jouvion Gregory, Loebinger Michel R, Maitre Bernard, Morris-Rosendahl Deborah, Papon Jean-Francois, Parsons Camille M, Patel Mitali P, Thomas N Simon, Thouvenin Guillaume, Walker Woolf T, Wilson Robert, Hogg Claire, Mitchison Hannah M, Lucas Jane |
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review. Orphanet journal of rare diseases 2022 Jul 17 (1): 283. Peng Bo, Gao Yong-Hua, Xie Jia-Qi, He Xiao-Wen, Wang Cong-Cong, Xu Jin-Fu, Zhang Guo-J |
Analysis of recurrent molecular alterations in phyllodes tumour of breast: insights into prognosis and pathogenesis. Pathology 2022 Jun . Tsang Julia Y, Shao Yan, Poon Ivan K, Ni Yun-Bi, Kwan Johnny S, Chow Chit, Shea Ka-Ho, Tse Gary |
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 |
Ciliary and immune dysfunctions and their genetic background in patients with non-cystic fibrosis bronchiectasis in Central Iran. Irish journal of medical science 2022 4 192 (1): 277-283. Hassanzadeh Shakiba, Sadeghi Somayeh, Jafari Mahbube, Najafi Somayeh, Molavi Newsha, Sherkat Ro |
PSRC1 May Affect Coronary Artery Disease Risk by Altering CELSR2, PSRC1, and SORT1 Gene Expression and Circulating Granulin and Apolipoprotein B Protein Levels. Frontiers in cardiovascular medicine 2022 3 9 763015. Chai Tianci, Wang Zhisheng, Yang Xiaojie, Qiu Zhihuang, Chen Liangw |
Novel Gene Variants Associated with Primary Ciliary Dyskinesia. Indian journal of pediatrics 2022 3 89 (7): 682-691. Demir Eksi Durkadin, Yilmaz Elanur, Basaran A Erdem, Erduran Gizem, Nur Banu, Mihci Ercan, Karadag Bulent, Bingol Aysen, Alper Ozgul |
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus. Genes and immunity 2023 7 . Kathleen M Vazzana, Anthony M Musolf, Joan E Bailey-Wilson, Linda T Hiraki, Earl D Silverman, Christiaan Scott, Clifton L Dalgard, Sarfaraz Hasni, Zuoming Deng, Mariana J Kaplan, Laura B Lewandows |
Exome Sequencing of Paired Colorectal Carcinomas and Synchronous Liver Metastases for Prognosis and Therapy Prediction. JCO precision oncology 2023 5 7 e2200557. Viktor Hlavá?, Lenka ?ervenková, Simona Š?sová, Petr Holý, Václav Liška, Ond?ej Vy?ítal, Ond?ej Šorejs, Ond?ej Fiala, Ond?ej Daum, Pavel Sou? |
Impact of mini-driver genes in the prognosis and tumor features of colorectal cancer samples: a novel perspective to support current biomarkers. PeerJ 2023 5 11 e15410. Anthony Vladimir Campos Segura, Mariana Belén Velásquez Sotomayor, Ana Isabel Flor Gutiérrez Román, César Alexander Ortiz Rojas, Alexis Germán Murillo Carras |
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings. Yonsei medical journal 2023 12 65 (1): 48-54. Jiyoung Oh, Jin-Sung Lee, Moo Suk Park, Young Ae Kang, Hyung-Ju Cho, Song Yee Kim, Jinsei Jung, Sun Och Yoon, Kyung Won K |
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype. Cells 2023 11 12 (22): . Ben O Staar, Jan Hegermann, Bernd Auber, Raphael Ewen, Sandra von Hardenberg, Ruth Olmer, Isabell Pink, Jessica Rademacher, Martin Wetzke, Felix C Ringshaus |
Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study. Lung 2024 4 . Noelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, Mark Jorissen, Natalie Lorent, Marijke Proesmans, François Vermeulen, Jeroen Breckpot, Mieke Bo |
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- Page last updated:Apr 22, 2024
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