Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 679 Records) |
| Query Trace: Cystic Fibrosis and CFTR[original query] |
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| The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia. Prenatal diagnosis 2022 Dec . Shum Bennett O V, Sng Letitia M F, Ruseckaite Rasa, Henner Ilya, Twine Natalie, Bauer Denis C, Wilgen Urs, Pretorius Carel, Barahona Paulette, Ungerer Jacobus P J, Bennett Gle |
| Targeted Locus Amplification and Haplotyping. Methods in molecular biology (Clifton, N.J.) 2022 11 2590 31-48. Lefferts Juliet W, Boersma Vera, Hagemeijer Marne C, Hajo Karima, Beekman Jeffrey M, Splinter Er |
| Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations. Frontiers in genetics 2022 11 13 1035468. Fang Jianzheng, Wang Xiaoyi, Sun Xueping, Cui Yugui, Diao Feiyang, Yang Xiao |
| Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in an adolescent with homozygous G85E cystic fibrosis. Respiratory medicine case reports 2022 11 40 101775. Stekolchik Elena, Saul David, Chidekel Aar |
| Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry. Annals of the American Thoracic Society 2022 11 . Salinas Danieli B, Wee Choo Phei, Bailey Barbara, Raraigh Karen, Conrad Dougl |
| Rate of Lung Function Decline in People with Cystic Fibrosis Having a Residual Function Gene Mutation. Pulmonary therapy 2022 11 8 (4): 385-395. Sawicki Gregory S, Konstan Michael W, McKone Edward F, Moss Richard B, Lubarsky Barry, Suthoff Ellison, Millar Stefanie J, Pasta David J, Mayer-Hamblett Nicole, Goss Christopher H, Morgan Wayne J, Duncan Margaret E, Yang Yooju |
| 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 |
| Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies. Journal of cellular and molecular medicine 2022 11 26 (23): 5943-5947. de Melo Ana Cristina Vieira, de Souza Karla Simone Costa, da Silva Heglayne Pereira Vital, Maia Jussara Melo de Cerqueira, Dantas Vera Maria, Bezerra João Felipe, de Rezende Adriana Augus |
| Elevated Levels of Toxic Bile Acids in Serum of Cystic Fibrosis Patients with CFTR Mutations Causing Pancreatic Insufficiency. International journal of molecular sciences 2022 10 23 (20): . Tabori Harold, Schneider Jochen, Lüth Stefan, Zagoya Carlos, Barucha Anton, Lehmann Thomas, Kauf Eberhard, Barth Astrid, Mainz Jochen |
| Frequencies of pathogenic CFTR variants in Greek cystic fibrosis patients with allergic bronchopulmonary aspergillosis and Aspergillus fumigatus chronic colonization: A retrospective cohort study. Journal de mycologie medicale 2022 Aug 33 (1): 101326. Noni Maria, Katelari Anna, Poulou Myrto, Ioannidis Diomidis, Kapasouri Efthymia-Maria, Tzetis Maria, Doudounakis Stavros-Eleftherios, Kanaka-Gantenbein Christina, Spoulou Va |
| Disparities and therapeutic advances in cystic fibrosis. Pediatric pulmonology 2023 5 . John B Pal |
| Real-life impact of highly effective CFTR modulator therapy in children with cystic fibrosis. Frontiers in pharmacology 2023 5 14 1176815. Margarete Olivier, Alexandra Kavvalou, Matthias Welsner, Raphael Hirtz, Svenja Straßburg, Sivagurunathan Sutharsan, Florian Stehling, Mathis Steind |
| Radiological and long-term clinical response to elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease. Pediatric pulmonology 2023 5 . Bente L Aalbers, Firdaus A A Mohamed Hoesein, Regina W Hofland, Inez Bronsveld, Marian A Kruijswijk, Suzan Schotman, Corlien W Slingerland, Hannah Panhuis, C Kors van der Ent, Harry G M Heijerm |
| Clinical and genetic features of cystic fibrosis in Japan. Journal of human genetics 2023 5 . Yuka Kozawa, Akiko Yamamoto, Miyuki Nakakuki, Kotoyo Fujiki, Shiho Kondo, Takuto Okada, Tomoya Fukuyasu, Makoto Yamaguchi, Itsuka Taniguchi, Nao Nomura, Libin Liu, Mayuko Higuchi, Erina Niwa, Yoshiro Sohma, Satoru Naruse, Yoshifumi Takeyama, Hiroshi Ishigu |
| Correlation of Electrophysiological and Fluorescence-Based Measurements of Modulator Efficacy in Nasal Epithelial Cultures Derived from People with Cystic Fibrosis. Cells 2023 5 12 (8): . Tarini N A Gunawardena, Zoltán Bozóky, Claire Bartlett, Hong Ouyang, Paul D W Eckford, Theo J Moraes, Felix Ratjen, Tanja Gonska, Christine E Be |
| The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results. International journal of molecular sciences 2023 5 24 (9): . Maria Makarova, Marina Nemtsova, Anastasiia Danishevich, Denis Chernevskiy, Maxim Belenikin, Anastasiia Krinitsina, Elena Baranova, Olesya Sagaydak, Maria Vorontsova, Igor Khatkov, Lyudmila Zhukova, Natalia Bodunova, Sergey Nikolaev, Mariya Byakhova, Anna Semenova, Vsevolod Galkin, Saida Gadzhie |
| Gaps in Cystic Fibrosis Care Are Associated with Reduced Lung Function in the U.S. Cystic Fibrosis Foundation Patient Registry. Annals of the American Thoracic Society 2023 4 . Sears Edmund H, Hinton Alexandra C, Lopez-Pintado Sara, Lary Christine W, Zuckerman Jonathan |
| Inhaled mRNA therapy for treatment of cystic fibrosis: Interim results of a randomized, double-blind, placebo-controlled phase 1/2 clinical study. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 4 . S M Rowe, J B Zuckerman, D Dorgan, J Lascano, K McCoy, M Jain, M S Schechter, S Lommatzsch, V Indihar, N Lechtzin, K McBennett, C Callison, C Brown, T G Liou, K D MacDonald, S Z Nasr, S Bodie, M Vaughn, E B Meltzer, A J Barbi |
| Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 4 . J W Lefferts, V Boersma, N D A Nieuwenhuijze, S W F Suen, K Hajo, N Sanchez Collantes, C Vermeulen, T Groeneweg, M C Hagemeijer, H R de Jonge, C K van der Ent, E Splinter, J M Beekm |
| Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro. Gene 2023 4 871 147428. Santos Luana Gavioli, Pereira Stéphanie Villa-Nova, Kmit Arthur Henrique Pezzo, Bonadia Luciana Cardoso, Bertuzzo Carmen Sílvia, Ribeiro José Dirceu, Mazzola Taís Nitsch, Marson Fernando Augusto Li |
| Single nucleotide variants in Pseudomonas aeruginosa populations from sputum correlate with baseline lung function and predict disease progression in individuals with cystic fibrosis. Microbial genomics 2023 4 9 (4): . Saber Morteza M, Donner Jannik, Levade Inès, Acosta Nicole, Parkins Michael D, Boyle Brian, Levesque Roger C, Nguyen Dao, Shapiro B Jes |
| Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor. International journal of neonatal screening 2023 3 9 (1): . Patel Payal, Yeley Jana, Brown Cynthia, Wesson Melissa, Lesko Barbara G, Slaven James E, Chmiel James F, Jain Raksha, Sanders Don |
| Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients. American journal of respiratory and critical care medicine 2023 3 . Zhou Yi-Hui, Gallins Paul J, Pace Rhonda G, Dang Hong, Aksit Melis A, Blue Elizabeth E, Buckingham Kati J, Collaco Joseph M, Faino Anna V, Gordon William W, Hetrick Kurt N, Ling Hua, Liu Weifang, Onchiri Frankline M, Pagel Kymberleigh, Pugh Elizabeth W, Raraigh Karen S, Rosenfeld Margaret, Sun Quan, Wen Jia, Li Yun, Corvol Harriet, Strug Lisa J, Bamshad Michael J, Blackman Scott M, Cutting Garry R, Gibson Ronald L, O'Neal Wanda K, Wright Fred A, Knowles Michael |
| Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child. Cureus 2023 2 15 (1): e33337. Francis Nader, Yavuz Sinan, Elnazir Bas |
| Characterization of CFTR mutations in people with cystic fibrosis and severe liver disease who are not eligible for CFTR modulators. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 2 . Colombo Carla, Ramm Grant A, Lindblad Anders, Corti Fabiola, Porcaro Luigi, Alghisi Federico, Asherova Irina, Evans Helen, Kashirskaya Nataliya, Kondratyeva Elena, Lewindon Peter J, de Monestrol Isabelle, Oliver Mark, Ooi Chee Y, Padoan Rita, Shankar Sahana, Alicandro Gianfran |
| Prevalence of CFTR variants in PID patients with bronchiectasis - an important modifying co-factor. The Journal of allergy and clinical immunology 2023 2 . Lawless Dylan, Allen Hana Lango, Thaventhiran James E D, Goddard Sarah, Burren Oliver S, Robson Evie, , Peckham Daniel, Smith Kenneth G C, Savic Sini |
| Lower Expression of CFTR Is Associated with Higher Mortality in a Meta-Analysis of Individuals with Colorectal Cancer. Cancers 2023 2 15 (3): . Scott Patricia, Wang Shuo, Onyeaghala Guillaume, Pankratz Nathan, Starr Timothy, Prizment Anna |
| Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China. Scientific reports 2023 1 13 (1): 64. Qu Xiaowei, Li Lingyi, Cui Chenchen, Feng Ke, Xia Yanqing, Wan Feng, Zhang Cuilian, Guo Haib |
| The coexistence of TRPV6 variants with other pancreatitis-associated genes affects pediatric-onset pancreatitis. Journal of pediatric gastroenterology and nutrition 2023 1 . Hirai Saeko, Suzuki Mitsuyoshi, Sakurai Yumiko, Nakano Satoshi, Minowa Kei, Eguchi Hidetake, Okazaki Yasushi, Shimizu Toshia |
| Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation. Journal of the Endocrine Society 2023 1 7 (3): bvac182. Son Rachel G, Kandasamy Balamurugan, Bowden Tiana, Azzam Ruba K, Oakes Scott A, Philipson Louis H, Greeley Siri Atma |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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