Human Genome Epidemiology Literature Finder
Heart, Lung, Blood and Sleep Disorders
Records 1 - 30 (of 93 Records) |
Query Trace: Primary Ciliary Dyskinesia[original query] |
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Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum. Human reproduction (Oxford, England) 2021 Sep . Ferreux Lucile, Bourdon Mathilde, Chargui Ahmed, Schmitt Alain, Stouvenel Laurence, Lorès Patrick, Ray Pierre, Lousqui Johanna, Pocate-Cheriet Khaled, Santulli Pietro, Dulioust Emmanuel, Toure Aminata, Patrat Catheri |
Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico. Cureus 2021 9 13 (9): e17673. De Jesús-Rojas Wilfredo, Reyes De Jesús Dalilah, Nieves Angélica M, Mosquera Ricardo A, Martinez-Cruzado Juan |
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 molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience. International journal of pediatrics & adolescent medicine 2021 8 8 (4): 258-263. Alzaid Mohammed, Al-Mobaireek Khalid, Almannai Mohammed, Mukhtar Gawahir, Eltahir Safa, Zafar Adnan, Zada Abdulali P, Alotaibi Wad |
Case Report: Novel Biallelic Mutations in ARMC4 Cause Primary Ciliary Dyskinesia and Male Infertility in a Chinese Family. Frontiers in genetics 2021 8 12 715339. Gao Yang, Xu Chuan, Tan Qing, Shen Qunshan, Wu Huan, Lv Mingrong, Li Kuokuo, Tang Dongdong, Song Bing, Xu Yuping, Zhou Ping, Wei Zhaolian, Tao Fangbiao, Cao Yunxia, He Xiaoj |
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia. Orphanet journal of rare diseases 2021 7 16 (1): 293. Zhao Xinyue, Bian Chun, Liu Keqiang, Xu Wenshuai, Liu Yaping, Tian Xinlun, Bai Jing, Xu Kai-Feng, Zhang X |
Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia. American journal of medical genetics. Part A 2022 7 188 (10): 3024-3031. Ye Yutian, Huang Qijun, Chen Lipeng, Yuan Fang, Liu Shengguo, Zhang Xiangxia, Chen Rongchang, Fu Yingyun, Yue Yongji |
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 |
Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population. Respiratory research 2022 May 23 (1): 116. Liu Yichuan, Qu Hui-Qi, Qu Jingchun, Chang Xiao, Mentch Frank D, Nguyen Kenny, Tian Lifeng, Glessner Joseph, Sleiman Patrick M A, Hakonarson Hak |
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia. Annals of the American Thoracic Society 2022 5 19 (10): 1704-1712. Legendre Marie, Thouvenin Guillaume, Taytard Jessica, Baron Marguerite, Le Bourgeois Muriel, Tamalet Aline, Mani Rahma, Jouvion Gregory, Amselem Serge, Escudier Estelle, Beydon Nico |
Clinical phenotypes of primary ciliary dyskinesia. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022 5 47 (1): 116-122. Lei Cheng, Wang Rongchun, Yang Danhui, Guo Ting, Luo Ho |
A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. Asian journal of andrology 2022 3 24 (3): 255-259. Zubair Muhammad, Khan Ranjha, Ma Ao, Hameed Uzma, Khan Mazhar, Abbas Tanveer, Ahmad Riaz, Zhou Jian-Teng, Shah Wasim, Hussain Ansar, Ahmed Nisar, Khan Ihsan, Khan Khalid, Zhang Yuan-Wei, Zhang Huan, Wu Li-Min, Shi Qing-H |
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 |
Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia. The Laryngoscope 2022 3 133 (2): 248-254. Piatti Gioia, Ambrosetti Umberto, Aldè Mirko, Girotto Giorgia, Concas Maria P, Torretta Sa |
Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility. Journal of assisted reproduction and genetics 2022 12 40 (1): 41-51. Li Yunhao, Li Yong, Wang Ying, Meng Lanlan, Tan Chen, Du Juan, Tan Yue-Qiu, Nie Hongchuan, Zhang Qianjun, Lu Guangxiu, Lin Ge, Li Huanzhu, Zhang Huan, Tu Chaofe |
Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. Annals of the American Thoracic Society 2022 11 . Barber Andrew T, Shapiro Adam J, Davis Stephanie D, Ferkol Thomas W, Atkinson Jeffrey J, Sagel Scott D, Dell Sharon D, Olivier Kenneth N, Milla Carlos E, Rosenfeld Margaret, Li Lang, Lin Feng-Chang, Sullivan Kelli M, Capps Nicole A, Zariwala Maimoona A, Knowles Michael R, Leigh Margaret W, |
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia? Diagnostics (Basel, Switzerland) 2022 1 12 (1): . Blanco-Máñez Rosana, Armengot-Carceller Miguel, Jaijo Teresa, Vera-Sempere Francis |
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. Journal of human genetics 2022 Jan . Mabrouk Imed, Al-Harthi Nawal, Mani Rahma, Montantin Guy, Tissier Sylvie, Lagha Rihab, Ben Abdallah Fethi, Hassan Mohamad M, Alhomrani Majid, Gaber Ahmed, Alsanie Walaa F, Ouali Hanadi, Jambi Fatma A, Almaghamsi Talal M, Alqarni Nawal A, Alfarsi Nawaf A, Kashgari Khadija, Al-Zahrani Hasna J, Al-Shamary Zamel A, Al-Harbi Abdullah, Amselem Serge, Escudier Estelle, Legendre Mar |
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 |
Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia. Journal of human genetics 2023 2 . Kim Man Jin, Kim Sheehyun, Chae Seung Won, Lee Seungbok, Yoon Jihoon G, Kim Boram, Lee Jee-Soo, Chae Jong Hee, Seong Moon-Woo, Moon Jangs |
Novel HYDIN variants associated with male infertility in two Chinese families. Frontiers in endocrinology 2023 2 14 1118841. Yu Hui, Shi Xiao, Shao Zhongmei, Geng Hao, Guo Senzhao, Li Kuokuo, Gu Meng, Xu Chuan, Gao Yang, Tan Qing, Duan Zongliu, Wu Huan, Hua Rong, Guo Rui, Wei Zhaolian, Zhou Ping, Cao Yunxia, He Xiaojin, Li Liang, Zhang Xiaoping, Lv Mingro |
Genetics and epigenetics of chronic rhinosinusitis. The Journal of allergy and clinical immunology 2023 2 . Lal Devyani, Brar Tripti, Ramkumar Shreya Pusapadi, Li Jingyun, Kato Atsushi, Zhang L |
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 |
Outer dynein arm docking complex subunit 2 polymorphism rs7893462 modulates hepatocellular carcinoma susceptibility and can serve as an overall survival biomarker for hepatitis B virus-related hepatocellular carcinoma after hepatectomy: a cohort study with a long-term follow-up. World journal of surgical oncology 2023 10 21 (1): 322. Zhiming Zeng, Xiwen Liao, Ketuan Huang, Chuangye Han, Wei Qin, Hao Su, Xinping Ye, Chengkun Yang, Xin Zhou, Yongguang Wei, Shutian Mo, Junqi Liu, Chenlu Lan, Xinlei Huang, Zaida Huang, Kai Peng, Qiang Gao, Tao Peng, Guangzhi Z |
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 29, 2024
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