Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Disease and ABCA3[original query] |
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| ABCA3 mutations associated with pediatric interstitial lung disease. American journal of respiratory and critical care medicine 2005 Oct 172 (8): 1026-31. Bullard Janine E, Wert Susan E, Whitsett Jeffrey A, Dean Michael, Nogee Lawrence |
| Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatric research 2008 Jun 63 (6): 645-9. Garmany Tami H, Wambach Jennifer A, Heins Hillary B, Watkins-Torry Julie M, Wegner Daniel J, Bennet Kate, An Ping, Land Garland, Saugstad Ola D, Henderson Howard, Nogee Lawrence M, Cole F Sessions, Hamvas Aar |
| Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. Annals of medicine 2008 40 (1): 56-65. Karjalainen Minna K, Haataja Ritva, Hallman Mik |
| Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. American journal of respiratory and critical care medicine 2010 Dec 182 (11): 1419-25. van Moorsel Coline H M, van Oosterhout Matthijs F M, Barlo Nicole P, de Jong Pim A, van der Vis Joanne J, Ruven Henk J T, van Es H Wouter, van den Bosch Jules M M, Grutters Jan |
| ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants. Acta paediatrica (Oslo, Norway : 1992) 2012 Apr 101 (4): 380-3. Härtel Christoph, Felderhoff-Müser Ursula, Gebauer Corinna, Hoehn Thomas, Kribs Angela, Laux Reinhard, Möller Jens, Segerer Hugo, Teig Norbert, von der Wense Axel, Wieg Christian, Stichtenoth Guido, Herting Egbert, Göpel Wolfgang, |
| Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. Respiratory research 2012 13 (1): 67. Bækvad-Hansen Marie, Nordestgaard Børge G, Dahl Mort |
| [Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2012 Nov 50 (11): 843-6. Chen Yu-jun, Chen Shao-ke, DePass Kelcey, Wegner Daniel J, Hamvas Aaron, Nong Guang-min, Wang Ya-zhou, Fan Xin, Luo Jing- |
| [Clinical analysis of heterozygous ABCA3 mutations in children]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2014 Apr 52 (4): 244-7. Xu Xiujuan, Liu Enmei, Luo Zhengxiu, Luo Jian, Fu Zh |
| Genotype-phenotype correlations for infants and children with ABCA3 deficiency. American journal of respiratory and critical care medicine 2014 Jun 189 (12): 1538-43. Wambach Jennifer A, Casey Alicia M, Fishman Martha P, Wegner Daniel J, Wert Susan E, Cole F Sessions, Hamvas Aaron, Nogee Lawrence |
| Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. The Journal of pediatrics 2014 Jun 164 (6): 1316-21.e3. Wambach Jennifer A, Wegner Daniel J, Heins Hillary B, Druley Todd E, Mitra Robi D, Hamvas Aaron, Cole F Sessio |
| MUC5B expression and location in surfactant protein C mutations in children. Pediatric pulmonology 2015 Apr . Liptzin Deborah R, Watson Alan M, Murphy Elissa, Kroehl Miranda E, Dishop Megan K, Galambos Csaba, Evans Christopher M, Schwarz Marvin I, Deterding Robin R, Schwartz David |
| Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort. World journal of pediatrics : WJP 2015 Nov . Chen Yu-Jun, Wambach Jennifer Anne, DePass Kelcey, Wegner Daniel James, Chen Shao-Ke, Zhang Qun-Yuan, Heins Hillary, Cole Francis Sessions, Hamvas Aar |
| Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ open respiratory research 2014 1 (1): e000057. Coghlan Meghan A, Shifren Adrian, Huang Howard J, Russell Tonya D, Mitra Robi D, Zhang Qunyuan, Wegner Daniel J, Cole F Sessions, Hamvas Aar |
| Lung disease caused by ABCA3 mutations. Thorax 2016 Aug . Kröner Carolin, Wittmann Thomas, Reu Simone, Teusch Veronika, Klemme Mathias, Rauch Daniela, Hengst Meike, Kappler Matthias, Cobanoglu Nazan, Sismanlar Tugba, Aslan Ayse T, Campo Ilaria, Proesmans Marijke, Schaible Thomas, Terheggen-Lagro Susanne, Regamey Nicolas, Eber Ernst, Seidenberg Jürgen, Schwerk Nicolaus, Aslanidis Charalampos, Lohse Peter, Brasch Frank, Zarbock Ralf, Griese Matthi |
| Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population. Scientific reports 2017 Jun 7 (1): 4097. Zhou Wei, Zhuang Yi, Sun Jiapeng, Wang Xiaofen, Zhao Qingya, Xu Lizhi, Wang Yapi |
| Genetic basis for childhood interstitial lung disease among Japanese infants and children. Pediatric research 2018 3 83 (2): 477-483. Hayasaka Itaru, Cho Kazutoshi, Akimoto Takuma, Ikeda Masahiko, Uzuki Yutaka, Yamada Masafumi, Nakata Koh, Furuta Itsuko, Ariga Tadashi, Minakami Hisano |
| A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome. Medicina (Kaunas, Lithuania) 2019 7 55 (7): . Mitsiakos Georgios, Tsakalidis Christos, Karagianni Paraskevi, Gialamprinou Dimitra, Chatziioannidis Ilias, Papoulidis Ioannis, Tsanakas Ioannis, Soubasi Vasili |
| [Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2019 Jan 57 (1): 21-26. Liu J, Chen J H, Wang Y Q, Nong G M, Zheng Y J, Hao C |
| Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. Pediatric research 2021 9 92 (1): 190-198. Blume Felix, Kirsten Holger, Ahnert Peter, Chakraborty Trinad, Gross Arnd, Horn Katrin, Toliat Mohammad Reza, Nürnberg Peter, Westenfelder Eva-Maria, Goepel Wolfgang, Scholz Mark |
| Rare surfactant-related variants in familial and sporadic pulmonary fibrosis. Human mutation 2022 Sep . Sutton Rachel M, Bittar Humberto Trejo, Sullivan Daniel I, Silva Agustin Gil, Bahudhanapati Harinath, Parikh Anishka H, Zhang Yingze, Gibson Kevin, McDyer John F, Kass Daniel J, Alder Jonathan |
| A spectrum of recessiveness among Mendelian disease variants in UK Biobank. American journal of human genetics 2022 May . Barton Alison R, Hujoel Margaux L A, Mukamel Ronen E, Sherman Maxwell A, Loh Po- |
| Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study. Respiration; international review of thoracic diseases 2022 1 101 (6): 531-543. Manali Effrosyni D, Kannengiesser Caroline, Borie Raphael, Ba Ibrahima, Bouros Demosthenes, Markopoulou Aikaterini, Antoniou Katerina, Kolilekas Lykourgos, Papaioannou Andriana I, Tzilas Vasileios, Tzouvelekis Argyrios, Daniil Zoe, Fouka Evangelia, Papakosta Despoina, Xyfteri Areti, Karakatsani Anna, Loukides Stylianos, Korbila Ioanna, Tomos Ioannis P, Konstantinidis Athanasios K, Gogali Athina, Steiropoulos Paschalis, Papanikolaou Ilias C, Bazaka Chrysa, Haritou Aggeliki, Vassilakopoulos Theodoros, Maniati Maria, Kagouridis Konstantinos, Markozannes Evangelos, Bouros Evangelos, Rampiadou Christina, Kounti Georgia, Trachalaki Athina, Dimeas Ilias, Karampitsakos Theodoros, Lyberopoulos Panagiotis, Malamadakis Nikolaos, Spyropoulou Sofia, Revy Patrick, Lainey Elodie, Dieudé Philippe, Rebah Khedidja, Ménard Christelle, Oudin Claire, Masson Cécile, Plessier Aurélie, Legendre Marie, Nathan Nadia, Coulomb-L'Hermine Aurore, Clement Annick, Amselem Serge, Boileau Catherine, Crestani Bruno, Papiris Spyros, |
| ABCA3 and LZTFL1 Polymorphisms and Risk of COVID-19 in the Czech Population. Physiological research 2023 10 72 (4): 539-543. J A Hubacek, T Philipp, V Adamkova, O Majek, L Dus |
| High risk of lung cancer in surfactant-related gene variant carriers. The European respiratory journal 2024 4 . Alexandre Brudon, Marie Legendre, Arthur Mageau, Julien Bermudez, Philippe Bonniaud, Diane Bouvry, Jacques Cadranel, Aurélie Cazes, Bruno Crestani, Tristan Dégot, Céline Delestrain, Rémi Diesler, Ralph Epaud, Quentin Philippot, Nathalie Theou-Anton, Caroline Kannengiesser, Ibrahima Ba, Marie-Pierre Debray, Pascale Fanen, Efrosine Manali, Spyros Papiris, Nadia Nathan, Serge Amselem, Antoine Gondouin, Anne Guillaumot, Claire Andréjak, Stephane Jouneau, Guillaume Beltramo, Yurdagul Uzunhan, François Galodé, Virginie Westeel, Anas Mehdaoui, Sandrine Hirschi, Sylvie Leroy, Sylvain Marchand-Adam, Hilario Nunes, Clément Picard, Grégoire Prevot, Martine Reynaud-Gaubert, Paul De Vuyst, Lidwine Wemeau, Gautier Defossez, Gérard Zalcman, Vincent Cottin, Raphael Borie, |
- Page last reviewed:Feb 1, 2024
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