HuGE Literature Finder
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| High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification. HGG advances 2022 11 4 (1): 100156. Mastromatteo Scott, Chen Angela, Gong Jiafen, Lin Fan, Thiruvahindrapuram Bhooma, Sung Wilson W L, Whitney Joe, Wang Zhuozhi, Patel Rohan V, Keenan Katherine, Halevy Anat, Panjwani Naim, Avolio Julie, Wang Cheng, Côté-Maurais Guillaume, Bégin Stéphanie, Adam Damien, Brochiero Emmanuelle, Bjornson Candice, Chilvers Mark, Price April, Parkins Michael, van Wylick Richard, Mateos-Corral Dimas, Hughes Daniel, Smith Mary Jane, Morrison Nancy, Tullis Elizabeth, Stephenson Anne L, Wilcox Pearce, Quon Bradley S, Leung Winnie M, Solomon Melinda, Sun Lei, Ratjen Felix, Strug Lisa |
| Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis. American journal of human genetics 2022 10 109 (10): 1894-1908. Aksit Melis A, Ling Hua, Pace Rhonda G, Raraigh Karen S, Onchiri Frankline, Faino Anna V, Pagel Kymberleigh, Pugh Elizabeth, Stilp Adrienne M, Sun Quan, Blue Elizabeth E, Wright Fred A, Zhou Yi-Hui, Bamshad Michael J, Gibson Ronald L, Knowles Michael R, Cutting Garry R, Blackman Scott M, |
| Phenotypic Presentations of Cystic Fibrosis in Children of African Descent. Genes 2021 4 12 (3): . Mayer Lacrosniere Sophie, Gerardin Michele, Clainche-Viala Laurence Le, Houdouin Veroniq |
| Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population. The European respiratory journal 2020 5 56 (3): . Çolak Yunus, Nordestgaard Børge G, Afzal Shoa |
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.
PLoS genetics 2019 02 15 (2): e1008007. Gong Jiafen, Wang Fan, Xiao Bowei, Panjwani Naim, Lin Fan, Keenan Katherine, Avolio Julie, Esmaeili Mohsen, Zhang Lin, He Gengming, Soave David, Mastromatteo Scott, Baskurt Zeynep, Kim Sangook, O'Neal Wanda K, Polineni Deepika, Blackman Scott M, Corvol Harriet, Cutting Garry R, Drumm Mitchell, Knowles Michael R, Rommens Johanna M, Sun Lei, Strug Lisa |
| Predictors of deterioration of lung function in Polish children with cystic fibrosis. Archives of medical science : AMS 2016 Apr 12 (2): 402-7. Olszowiec-Chlebna Ma?gorzata, Koniarek-Maniecka Agnieszka, Stelmach W?odzimierz, Smejda Katarzyna, Jerzy?ska Joanna, Majak Pawe?, Bia?as Monika, Stelmach Iwo |
| Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jun . Dupuis Annie, Keenan Katherine, Ooi Chee Y, Dorfman Ruslan, Sontag Marci K, Naehrlich Lutz, Castellani Carlo, Strug Lisa J, Rommens Johanna M, Gonska Tan |
| Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities. Human genetics 2014 Feb 133 (2): 151-61. Li Weili, Soave David, Miller Melissa R, Keenan Katherine, Lin Fan, Gong Jiafen, Chiang Theodore, Stephenson Anne L, Durie Peter, Rommens Johanna, Sun Lei, Strug Lisa |
| Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nature genetics 2012 May 44 (5): 562-9. Sun Lei, Rommens Johanna M, Corvol Harriet, Li Weili, Li Xin, Chiang Theodore A, Lin Fan, Dorfman Ruslan, Busson Pierre-François, Parekh Rashmi V, Zelenika Diana, Blackman Scott M, Corey Mary, Doshi Vishal K, Henderson Lindsay, Naughton Kathleen M, O'Neal Wanda K, Pace Rhonda G, Stonebraker Jaclyn R, Wood Sally D, Wright Fred A, Zielenski Julian, Clement Annick, Drumm Mitchell L, Boëlle Pierre-Yves, Cutting Garry R, Knowles Michael R, Durie Peter R, Strug Lisa |
| Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis. PLoS genetics 2012 8 (3): e1002580. Henderson Lindsay B, Doshi Vishal K, Blackman Scott M, Naughton Kathleen M, Pace Rhonda G, Moskovitz Jackob, Knowles Michael R, Durie Peter R, Drumm Mitchell L, Cutting Garry |
| Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. Journal of pediatric gastroenterology and nutrition 2010 Mar 50 (3): 347-9. van der Doef H P J, Slieker M G, Staab D, Alizadeh B Z, Seia M, Colombo C, van der Ent C K, Nickel R, Witt H, Houwen R H |
| Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. Human genetics 2009 Dec 126 (6): 763-78. Dorfman Ruslan, Li Weili, Sun Lei, Lin Fan, Wang Yongqian, Sandford Andrew, Paré Peter D, McKay Karen, Kayserova Hana, Piskackova Tereza, Macek Milan, Czerska Kamila, Sands Dorota, Tiddens Harm, Margarit Sonia, Repetto Gabriela, Sontag Marci K, Accurso Frank J, Blackman Scott, Cutting Garry R, Tsui Lap-Chee, Corey Mary, Durie Peter, Zielenski Julian, Strug Lisa |
| [Correlation between phenotype and genotype in a group of patients with cystic fibrosis]. Revista médica de Chile 2002 May 130 (5): 475-81. Navarro Héctor, Kolbach Marianne, Repetto Gabriela, Guiraldes Ernesto, Harris Paul, Foradori Arnaldo, Poggi Helena, Sánchez Ignac |
| Neonatal screening for cystic fibrosis: long-term clinical balance. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2001 1 (5): 531-7. Mastella G, Zanolla L, Castellani C, Altieri S, Furnari M, Giglio L, Lombardo M, Miano A, Sciuto C, Pardo F, Magazzù |
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