Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Syndrome and ABCA3[original query] |
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| 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 |
| 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, |
| Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants. Chinese medical journal 2012 May 125 (9): 1594-8. Jiang Lin, Wu Yi-Dong, Xu Xue-Feng, DU Li-Zho |
| Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate. BMJ case reports 2012 6 2011 . Parappil Hussain, Al Baridi Ahmad, ur Rahman Sajjad, Kitchi Mahmood H, Ruef P, Griese M, Lohse P, Aslanidis C, Schmitz G, Koch L, Poeschl |
| [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 |
| 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 |
| 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 |
| The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China. Pediatrics and neonatology 2015 Oct . Tian Wenjun, Chen Xiuqi, Qin Huijuan, Wei Qiufen, Zhang Shuying, Tang Shangying, Liao Liangrong, Zhang Yanming, Chen Yuj |
| 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 |
| 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 |
| Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study. Jornal de pediatria 2021 Oct . Nakwan Narongsak, Mahasirimongkol Surakameth, Satproedprai Nusara, Chaiyasung Tassamonwan, Kunhapan Punna, Charoenlap Cheep, Singkhamanan Kamonnut, Charalsawadi Chariyaw |
| 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, |
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