Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: CCDC39[original query] |
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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. The European respiratory journal 2014 Dec 44 (6): 1579-88. Raidt Johanna, Wallmeier Julia, Hjeij Rim, Onnebrink Jörg Große, Pennekamp Petra, Loges Niki T, Olbrich Heike, Häffner Karsten, Dougherty Gerard W, Omran Heymut, Werner Claudi |
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 |
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 |
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele. Human mutation 2019 8 41 (1): 115-121. Mani Rahma, Belkacem Sabrina, Soua Zohra, Chantot Sandra, Montantin Guy, Tissier Sylvie, Copin Bruno, Bouguila Jihene, Rive Le Gouard Nicolas, Boughamoura Lamia, Ben Ameur Salma, Hachicha Mongia, Boussoffara Raoudha, Boussetta Khadija, Hammouda Samia, Bedoui Abir, Besbes Habib, Meddeb Seif, Chraeit Karima, Khlifa Monia, Escudier Estelle, Amselem Serge, Mabrouk Imed, Legendre Mar |
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 |
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. Life (Basel, Switzerland) 2020 Oct 10 (10): . Cannarella Rossella, Precone Vincenza, Guerri Giulia, Busetto Gian Maria, Di Renzo Gian Carlo, Gerli Sandro, Manara Elena, Dautaj Astrit, Bertelli Matteo, Calogero Aldo Eugen |
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 |
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 |
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 |
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 |
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 |
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 |
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