Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and CCDC40[original query] |
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| Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. American journal of respiratory and critical care medicine 2015 Feb 191 (3): 316-24. Davis Stephanie D, Ferkol Thomas W, Rosenfeld Margaret, Lee Hye-Seung, Dell Sharon D, Sagel Scott D, Milla Carlos, Zariwala Maimoona A, Pittman Jessica E, Shapiro Adam J, Carson Johnny L, Krischer Jeffrey P, Hazucha Milan J, Cooper Matthew L, Knowles Michael R, Leigh Margaret |
| 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 |
| 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 |
| 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? |
| 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 |
| 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 |
| 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 |
| 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 |
| Genome-wide association study identifies novel susceptibilities to adult moyamoya disease. Journal of human genetics 2023 6 . Jin Pyeong Jeon, Eun Pyo Hong, Eun Jin Ha, Bong Jun Kim, Dong Hyuk Youn, Sungyoung Lee, Hee Chang Lee, Kang Min Kim, Sung Ho Lee, Won-Sang Cho, Hyun-Seung Kang, Jeong Eun 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 |
| Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes. Genetic testing and molecular biomarkers 2024 6 . Zhonglin Liu, Chunyan Wang, Feng Ni, Tingshu Li, Fenglian Yang, Han Wei, Tengyan Li, Changhui Huang, Junli Wang, Binbin Wa |
| Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis. Annals of the American Thoracic Society 2024 10 . BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline M Onchiri, Marshall D Brown, Rhonda Szczesniak, Thomas W Ferkol, Scott D Sagel, Sharon D Dell, Carlos Milla, Adam J Shapiro, Kelli M Sullivan, Maimoona A Zariwala, Jessica E Pittman, Michael R Knowles, Stephanie D Davis, Margaret W Leigh, |
| 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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