Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Disease and DNAH5[original query] |
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| Identification of KIF3A as a novel candidate gene for childhood asthma using RNA expression and population allelic frequencies differences. PloS one 2011 6 (8): e23714. Kovacic Melinda Butsch, Myers Jocelyn M Biagini, Wang Ning, Martin Lisa J, Lindsey Mark, Ericksen Mark B, He Hua, Patterson Tia L, Baye Tesfaye M, Torgerson Dara, Roth Lindsey A, Gupta Jayanta, Sivaprasad Umasundari, Gibson Aaron M, Tsoras Anna M, Hu Donglei, Eng Celeste, Chapela Rocío, Rodríguez-Santana José R, Rodríguez-Cintrón William, Avila Pedro C, Beckman Kenneth, Seibold Max A, Gignoux Chris, Musaad Salma M, Chen Weiguo, Burchard Esteban González, Hershey Gurjit K Khura |
| DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. Respiratory research 2014 15 97. Lee Jin Hwa, McDonald Merry-Lynn N, Cho Michael H, Wan Emily S, Castaldi Peter J, Hunninghake Gary M, Marchetti Nathaniel, Lynch David A, Crapo James D, Lomas David A, Coxson Harvey O, Bakke Per S, Silverman Edwin K, Hersh Craig P, |
| Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia. International journal of endocrinology 2013 2013 731423. Svobodová Tamara, Djakow Jana, Zemková Daniela, Cipra Adam, Pohunek Petr, Lebl J |
| 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 |
| Analysis of Paired Primary-Metastatic Hormone-Receptor Positive Breast Tumors (HRPBC) Uncovers Potential Novel Drivers of Hormonal Resistance. PloS one 2016 11 (5): e0155840. Manso Luis, Mourón Silvana, Tress Michael, Gómez-López Gonzalo, Morente Manuel, Ciruelos Eva, Rubio-Camarillo Miriam, Rodriguez-Peralto Jose Luis, Pujana Miguel A, Pisano David G, Quintela-Fandino Migu |
| 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 |
| Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome medicine 2017 Oct 9 (1): 95. Li Alexander H, Hanchard Neil A, Furthner Dieter, Fernbach Susan, Azamian Mahshid, Nicosia Annarita, Rosenfeld Jill, Muzny Donna, D'Alessandro Lisa C A, Morris Shaine, Jhangiani Shalini, Parekh Dhaval R, Franklin Wayne J, Lewin Mark, Towbin Jeffrey A, Penny Daniel J, Fraser Charles D, Martin James F, Eng Christine, Lupski James R, Gibbs Richard A, Boerwinkle Eric, Belmont John |
| Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. American journal of respiratory and critical care medicine 2018 Aug . Davis Stephanie D, Rosenfeld Margaret, Lee Hye-Seung, Ferkol Thomas W, Sagel Scott D, Dell Sharon D, Milla Carlos, Pittman Jessica E, Shapiro Adam J, Sullivan Kelli M, Nykamp Keith R, Krischer Jeffrey P, Zariwala Maimoona A, Knowles Michael R, Leigh Margaret |
| Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis. Journal of thoracic disease 2018 May 10 (5): 2618-2630. Guan Wei-Jie, Li Jia-Cheng, Liu Fang, Zhou Jian, Liu Ya-Ping, Ling Chao, Gao Yong-Hua, Li Hui-Min, Yuan Jing-Jing, Huang Yan, Chen Chun-Lan, Chen Rong-Chang, Zhang Xue, Zhong Nan-Sh |
| Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PloS one 2018 10 13 (10): e0205422. Andjelkovic Marina, Minic Predrag, Vreca Misa, Stojiljkovic Maja, Skakic Anita, Sovtic Aleksandar, Rodic Milan, Skodric-Trifunovic Vesna, Maric Nina, Visekruna Jelena, Spasovski Vesna, Pavlovic Son |
| Histologic features and genomic alterations of primary colorectal adenocarcinoma predict growth patterns of liver metastasis. World journal of gastroenterology 2019 Jul 25 (26): 3408-3425. Wu Jing-Bo, Sarmiento Ali Lopez, Fiset Pierre-Olivier, Lazaris Anthula, Metrakos Peter, Petrillo Stephanie, Gao Zu-H |
| CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking. American journal of respiratory cell and molecular biology 2019 3 61 (4): 440-449. Zietkiewicz Ewa, Bukowy-Bieryllo Zuzanna, Rabiasz Alicja, Daca-Roszak Patrycja, Wojda Alina, Voelkel Katarzyna, Rutkiewicz Ewa, Pogorzelski Andrzej, Rasteiro Margarida, Witt Mich |
| 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? |
| Two mutations in the axonemal dynein heavy chain gene 5 in a Chinese asthenozoospermia patient: A case report. Medicine 2020 7 99 (28): e20813. He Jing, Li Leilei, Yu Yang, Hu Xiaonan, Zhang Hongguo, Liu Ruizhi, Wang Ruix |
| 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 |
| A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia. Journal of genetics 2020 2 99 . Mani Rahma, Bouguila JihèNe, Ameur Salma Ben, Hachicha Mongia, Soua Zohra, Mabrouk Im |
| Replication study of susceptibility variants associated with allergic rhinitis and allergy in Han Chinese. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2020 16 13. Gao Yunbo, Li Jingyun, Zhang Yuan, Zhang L |
| Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML. Blood 2021 9 139 (8): 1208-1221. Yang Fei, Long Nicola, Anekpuritanang Tauangtham, Bottomly Daniel, Savage Jonathan C, Lee Tiffany, Solis-Ruiz Jose, Borate Uma, Wilmot Beth, Tognon Cristina, Bock Allison M, Pollyea Daniel A, Radhakrishnan Saikripa, Radhakrishnan Srinidhi, Patel Prapti, Collins Robert H, Tantravahi Srinivas, Deininger Michael W, Fan Guang, Druker Brian, Shinde Ujwal, Tyner Jeffrey W, Press Richard D, McWeeney Shannon, Agarwal Anupri |
| 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 |
| Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing. Yonsei medical journal 2021 2 62 (3): 224-230. Cho Eun Hye, Ki Chang Seok, Yun Sun Ae, Kim Su Young, Jhun Byung Woo, Koh Won Jung, Huh Hee Jae, Lee Nam Yo |
| 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 |
| Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. Journal of human genetics 2023 3 . Xu Yifei, Feng Guofei, Yano Taichi, Masuda Sawako, Nagao Mizuho, Gotoh Shimpei, Ikejiri Makoto, Tanabe Masaki, Takeuchi Kazuhi |
| 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 |
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