Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 1024 Records) |
Query Trace: Cystic fibrosis[original query] |
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Global disparities in cystic fibrosis outcomes prior to CFTR modulators: A CF registries cohort study in South Africa and Canada. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 9 . Marco Zampoli, Jenna Sykes, Janine Verstraete, Stephanie Y Cheng, Brenda Morrow, Michael S Pepper, Cheryl Stewart, Heather J Zar, Anne L Stephens |
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis. Pediatric pulmonology 2023 8 . Leslie Huang, HuiChuan J Lai, Jie Song, Zijie Zhao, Qiongshi Lu, Sangita G Murali, Donna M Brown, Elizabeth A Worthey, Philip M Farre |
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort. Genes 2023 8 14 (8): . Elisa De Paolis, Bruno Tilocca, Carla Lombardi, Maria De Bonis, Paola Concolino, Maria Elisabetta Onori, Claudio Ricciardi Tenore, Alessia Perrucci, Paola Roncada, Ettore Capoluongo, Andrea Urbani, Angelo Minucci, Concetta Santonoci |
Transforming Growth Factor ß1 and Gap Junction Protein Alpha 4 Gene Heterogeneity in Relation to the Severity of Clinical Disease in Cystic Fibrosis. Frontiers in bioscience (Landmark edition) 2023 8 28 (7): 138. Joern Pascal Laubach, Michael Ludwig, Tabea Horn, Olaf Eickmeier, Christina Smaczny, Ralf Schubert, Stefan Zielen, Christof Majoor, Malik Aydin, Alexander Schnell, Sabina Schmitt-Gro |
Aquagenic Wrinkling of the Palms in a cohort of Greek children diagnosed with Cystic Fibrosis: Associated Clinical Parameters. Journal of the European Academy of Dermatology and Venereology : JEADV 2023 7 . A Alexopoulos, G Chouliaras, T Kakourou, M Dakoutrou, A Petrocheilou, L Nasi, I Thanopoulou, S Siahanidou, C Kanaka-Gantenbein, L Kontara, A Michos, I Louk |
L138ins Variant of the CFTR Gene in Russian Infertile Men. Genes 2023 7 14 (7): . Vyacheslav Chernykh, Tatyana Sorokina, Anna Sedova, Maria Shtaut, Olga Solovova, Ekaterina Marnat, Tagui Adyan, Tatyana Beskorovaynaya, Anna Stepanova, Olga Shchagina, Aleksandr Polyak |
Ovarian reserve in women with cystic fibrosis: is this a cause of sub-fertility? Journal of ovarian research 2023 7 16 (1): 148. Malena Cohen-Cymberknoh, Keren Marks Garber, Joel Reiter, Michal Shteinberg, Aielet Stolovas, Iyad Barghouti, Chana Adler Lazarovits, Efrat Esh Broder, Anat Hershko Kleme |
Prevalence of tracheobronchomalacia is higher than previously reported in children with cystic fibrosis. Pediatric pulmonology 2023 6 . Julie Depiazzi, Crystal Bourke, Stephen Stick, Adelaide Withe |
Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade. Frontiers in genetics 2023 6 14 1140034. Amin Hosseini Nami, Mahboubeh Kabiri, Fatemeh Zafarghandi Motlagh, Tina Shirzadeh, Negar Fakhari, Ali Karimi, Hamideh Bagherian, Mojdeh Jamali, Shahrzad Younesikhah, Sara Shadman, Razie Zeinali, Sirous Zeina |
FAM13A polymorphisms are associated with a specific susceptibility to clinical progression of oral cancer in alcohol drinkers. BMC cancer 2023 6 23 (1): 607. Ming-Ju Hsieh, Yu-Sheng Lo, Yun-Jung Tsai, Hsin-Yu Ho, Chia-Chieh Lin, Yi-Ching Chuang, Shu-Hui Lin, Mu-Kuan Ch |
CT imaging shows specific pancreatic abnormalities in persons with cystic fibrosis related diabetes. Scientific reports 2023 6 13 (1): 10433. Laure Alexandre-Heymann, Marie Puerto, Clémence Martin, Espérie Burnet, Helen Mosnier-Pudar, Pierre-Régis Burgel, Etienne Larg |
Chronic Pancreatitis Associated With a Variant of CFTR Gene Treated With Total Pancreatectomy and Autologous Islet Cell Transplantation. AACE clinical case reports 2023 5 9 (3): 93-96. Shubham Agarwal, Ildiko Lingvay, Sasan Mirfakhraee, Raksha Ja |
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 |
An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia. Journal of assisted reproduction and genetics 2023 12 . Meng Wang, Juepu Zhou, Rui Long, Ruolin Mao, Limin Gao, Xiangfei Wang, Yinwei Chen, Lei Jin, Lixia Z |
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study. Clinica chimica acta; international journal of clinical chemistry 2023 11 117625. Marcella Nunziato, Flavio Starnone, Sonia Giordano, Marcella D'antonio, Domenico Scognamiglio, Maria Valeria Esposito, Antonio Correra, Federica Di Maggio, Valeria D'Argenio, Giovanni Luca Scaglione, Giuseppe Castaldo, Francesco Salvato |
In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells. iScience 2023 11 26 (11): 108180. Karina Kleinfelder, Virginia Lotti, Adriana Eramo, Felice Amato, Stefania Lo Cicero, Germana Castelli, Francesca Spadaro, Alessia Farinazzo, Daniele Dell'Orco, Sara Preato, Jessica Conti, Luca Rodella, Francesco Tomba, Angelo Cerofolini, Elena Baldisseri, Marina Bertini, Sonia Volpi, Valeria Rachela Villella, Speranza Esposito, Immacolata Zollo, Giuseppe Castaldo, Carlo Laudanna, Eric J Sorsher, Jeong Hong, Disha Joshi, Garry Cutting, Marco Lucarelli, Paola Melotti, Claudio Sor |
Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients. Cureus 2023 11 15 (11): e48564. Asaf Syed, Anurag Rawat, Umer Bin Tariq, Ihteshamul Haq, Beenish Naz, Abrar Hussain, Mehdi Maqsood, Arsalan Rashe |
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome. International journal of molecular sciences 2023 11 24 (22): . Vyacheslav Chernykh, Stanislav Krasovsky, Olga Solovova, Tagui Adyan, Anna Stepanova, Ekaterina Marnat, Maria Shtaut, Anna Sedova, Tatyana Sorokina, Tatyana Beskorovainaya, Elena Kondratyeva, Olga Shchagina, Aleksandr Polyak |
Identification of prognostic biomarkers for antibiotic associated nephrotoxicity in cystic fibrosis. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 11 . Andrew Hart, Francine Cesar, Leila R Zelnick, Nick O'Connor, Zoie Bailey, Jordan Lo, Kirk Van Ness, Ian B Stanaway, Theo K Bammler, James W MacDonald, Matthew R Thau, Jonathan Himmelfarb, Christopher H Goss, Moira Aitken, Edward J Kelly, Pavan K Bhatra |
Mechanisms by which the cystic fibrosis transmembrane conductance regulator may influence SARS-CoV-2 infection and COVID-19 disease severity. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2023 10 37 (11): e23220. Philip R Tedbury, Candela Manfredi, Frauke Degenhardt, Joseph Conway, Michael C Horwath, Courtney McCracken, Adam J Sorscher, Sandy Moreau, Christine Wright, Carolina Edwards, Jo Brewer, Jeannette Guarner, Emmie de Wit, Brandi N Williamson, Mehul S Suthar, Yee T Ong, John D Roback, David N Alter, Jan C Holter, Tom H Karlsen, Nicoletta Sacchi, Manuel Romero-Gómez, Pietro Invernizzi, Javier Fernández, Maria Buti, Agustin Albillos, Antonio Julià, Luca Valenti, Rosanna Asselta, Jesus M Banales, Luis Bujanda, Rafael de Cid, André Franke, , Stefan G Sarafianos, Jeong S Hong, Eric J Sorscher, Annette Ehrhar |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
Lung Allocation Score Exceptions in Persons with Cystic Fibrosis Undergoing Lung Transplant. Annals of the American Thoracic Society 2023 10 . Omar F Bayomy, Miranda C Bradford, Tijana Milinic, Siddhartha G Kapnadak, Eric D Morrell, Erika D Lease, Christopher H Goss, Kathleen J Ram |
Morbidity and treatment costs of cystic fibrosis in a middle-income country. Singapore medical journal 2023 10 . Shih Ying Hng, Agnes Suganthi Thinakaran, Chiou Jia Ooi, Kah Peng Eg, Meow Keong Thong, Sok Kun Tae, Saw Huan Goh, Kee Seang Chew, Lay Teng Tan, Mia Tuang Koh, Li Ai Chong, Farah Khalid, Ruey Teng Ng, Anna Marie Nathan, Jessie Anne de Bruy |
The burden of cystic fibrosis in North Africa. Frontiers in genetics 2024 1 14 1295008. Nada El Makhzen, Houria Daimi, Laila Bouguenouch, Hugues Abri |
Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples. Genes 2024 1 15 (1): . Andrey S Glotov, Vyacheslav B Chernykh, Olga A Solovova, Aleksander V Polyakov, Maksim Yu Donnikov, Ludmila V Kovalenko, Yury A Barbitoff, Yulia A Nasykhova, Tatyana E Lazareva, Oleg S Glot |
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- Page last updated:Mar 25, 2024
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