Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and DNAH11[original query] |
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Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Nature genetics 2009 Jan 41 (1): 47-55. Aulchenko Yurii S, Ripatti Samuli, Lindqvist Ida, Boomsma Dorret, Heid Iris M, Pramstaller Peter P, Penninx Brenda W J H, Janssens A Cecile J W, Wilson James F, Spector Tim, Martin Nicholas G, Pedersen Nancy L, Kyvik Kirsten Ohm, Kaprio Jaakko, Hofman Albert, Freimer Nelson B, Jarvelin Marjo-Riitta, Gyllensten Ulf, Campbell Harry, Rudan Igor, Johansson Asa, Marroni Fabio, Hayward Caroline, Vitart Veronique, Jonasson Inger, Pattaro Cristian, Wright Alan, Hastie Nick, Pichler Irene, Hicks Andrew A, Falchi Mario, Willemsen Gonneke, Hottenga Jouke-Jan, de Geus Eco J C, Montgomery Grant W, Whitfield John, Magnusson Patrik, Saharinen Juha, Perola Markus, Silander Kaisa, Isaacs Aaron, Sijbrands Eric J G, Uitterlinden Andre G, Witteman Jacqueline C M, Oostra Ben A, Elliott Paul, Ruokonen Aimo, Sabatti Chiara, Gieger Christian, Meitinger Thomas, Kronenberg Florian, Döring Angela, Wichmann H-Erich, Smit Johannes H, McCarthy Mark I, van Duijn Cornelia M, Peltonen Leena, |
| Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Molecular genetics & genomic medicine 2015 Mar 3 (2): 137-42. Fedick Anastasia M, Jalas Chaim, Treff Nathan R, Knowles Michael R, Zariwala Maimoona |
| Exome array analysis of ischaemic stroke: results from a southern Swedish study. European journal of neurology 2016 12 23 (12): 1722-1728. Söderholm M, Almgren P, Jood K, Stanne T M, Olsson M, Ilinca A, Lorentzen E, Norrving B, Engström G, Melander O, Jern C, Lindgren |
| Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. The Journal of molecular diagnostics : JMD 2016 Sep . Boaretto Francesca, Snijders Deborah, Salvoro Cecilia, Spalletta Ambra, Mostacciuolo Maria Luisa, Collura Mirella, Cazzato Salvatore, Girosi Donatella, Silvestri Michela, Rossi Giovanni Arturo, Barbato Angelo, Vazza Giovan |
| DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome. Scientific reports 2019 5 9 (1): 6683. Liu Sida, Chen Weicheng, Zhan Yongkun, Li Shuolin, Ma Xiaojing, Ma Duan, Sheng Wei, Huang Guoyi |
| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
| 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? |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype. Thorax 2024 8 . Massimo Pifferi, Attilio Boner, Debora Maj, Angela Michelucci, Gabriele Donzelli, Angela M Cangiotti, Raffaella Guazzo, Giulia Bertolucci, Veronica Bertini, Chiara Doccioli, Michele Piazza, Angelo Valetto, Maria Adelaide Caligo, Diego Peroni, Andrew Bu |
| Long-Term Lung Function and Pseudomonas aeruginosa Infection in Genotyped Primary Ciliary Dyskinesia. Annals of the American Thoracic Society 2024 10 . Mathias G Holgersen, June K Marthin, Johanna Raidt, Tavs Qvist, Helle K Johansen, Heymut Omran, Kim G Niels |
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