Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 1041 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 |
Genome-Wide Association Study of Susceptibility to Pseudomonas aeruginosa Infection in Cystic Fibrosis. The European respiratory journal 2024 8 . Boxi Lin, Jiafen Gong, Katherine Keenan, Fan Lin, Yu-Chung Lin, Julie Mésinèle, Claire Calmel, Badreddine Mohand Oumoussa, Pierre-Yves Boëlle, Loïc Guillot, Harriet Corvol, Valerie Waters, Lei Sun, Lisa J Str |
Real-world data confirm elexacftor/tezacaftor/ivacaftor modulators halves sweat chloride concentration in eligible people with cystic fibrosis. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2024 8 . Thomas Bryrup, Daniel Faurholt-Jepsen, Tacjana Pressler, Esben Herborg Henriksen, Christian Leo-Hansen, Bibi Uhre Nielsen, Christine Højte, Inger Hee Mabuza Mathiesen, Terese L Katzenstein, Majbritt Jeppesen, Søren Jensen-Fangel, Hanne Vebert Olesen, Marianne Skov, Tavs Qvist, Mette Frahm Olsen, |
Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population. BMC pediatrics 2024 7 24 (1): 422. Daniela Gois Meneses, Fábia Regina Dos Santos, Anne Jardim Botelho, Luciana Mota Bispo, Camilla Guerra Matos, Vynicius Goltran Sobral Propheta, Alexia Ferreira Rodrigues, Géssica Uruga Oliveira, Angela Maria da Silva, Ricardo Queiroz Gurg |
Liver biochemical indexes and cholesterol metabolism in cystic fibrosis patients with F508del/CFTR variant genotype after elexacaftor/tezacaftor/ivacaftor treatment. Scientific reports 2024 7 14 (1): 17422. Alice Castaldo, Paola Iacotucci, Sveva Bagnasco, Cristina Fevola, Vincenzo Carnovale, Fabio Antonelli, Gustavo Cernera, Monica Gelzo, Vito Terliz |
Artificial Intelligence-driven Prediction Revealed CFTR Associated With Therapy Outcome Of Breast Cancer: A Feasibility Study. Oncology 2024 7 . Mária Ková?ová, Viktor Hlavá?, Renata Koževnikovová, Karel Rauš, Ji?í Gat?k, Pavel Sou? |
Reported Adverse Events in a Multicenter Cohort of Patients Ages 6-18 Years with Cystic Fibrosis and at Least one F508del Allele Receiving Elexacaftor/Tezacaftor/Ivacaftor. The Journal of pediatrics 2024 6 114176. V Terlizzi, C Fevola, S Presti, A Castaldo, V Daccò, L Claut, A Sepe, F Majo, R Casciaro, I Esposito, P Vitullo, M Salvi, P Troiani, F Ficili, G F Parisi, S Pantano, S Costa, G Leonetti, N Palladino, G Taccetti, P Bonomi, D Salvato |
Potential of pharmacogenetics in minimizing drug therapy problems in cystic fibrosis. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2024 6 . Anindit Chhibber, Alexandre Hikiji Watanabe, Hollyann Jacobs, Aditi Kharat, Sakil M Syeed, Catherine M Sherwin, Nathorn Chaiyakunapruk, Joseph Biskupiak, Venkata K Yellepeddi, Diana Brixner, David C You |
Risk factors for COVID-19 hospitalisation after booster vaccination during the Omicron period: A French nationwide cohort study. Journal of infection and public health 2024 6 17 (7): 102450. Agathe Turpin, Laura Semenzato, Stéphane Le Vu, Marie-Joëlle Jabagi, Kim Bouillon, Jérôme Drouin, Marion Bertrand, Lukshe Kanagaratnam, Alain Weill, Rosemary Dray-Spira, Mahmoud Zureik, Jérémie Bott |
Calcitonin Gene-Related Peptide Level in Cystic Fibrosis Patients. Life (Basel, Switzerland) 2024 5 14 (5): . Sabina Galiniak, Marek Biesiadecki, Iwona Ro?ciszewska-?ukowska, Marta Rach |
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain. Molecular genetics and genomics : MGG 2024 5 299 (1): 52. Osama A Karim Majed, Fatema Osama Majed, Nabeel Jasim Almoamen, Husain Baqer Alsatrawi, Salma Dawood Shehabi, Jana Hrbková, Malgorzata Libik, Milan Mac |
Maternal and fetal outcomes in multiparous women with Cystic Fibrosis. Respiratory medicine 2024 5 228 107654. Malena Cohen-Cymberknoh, Maya Ariel Dabby, Bar Gindi Reiss, Joel Melo Tanner, Gema Pérez, Noah Lechtzin, Eva Polverino, Javier Perez Miranda, Andrea Gramegna, Stefano Aliberti, Hagit Levine, Huda Mussaffi, Hanna Blau, Dario Prais, Meir Mei-Zahav, Michal Shteinberg, Galit Livnat, Michal Gur, Lea Bentur, Damian G Downey, Adi Dagan, Inbal Golan-Tripto, Micha Aviram, Pedro Mondejar-Lopez, Elie Picard, Carsten Schwarz, Petr Jakubec, Traci M Kazmerski, Hagai Amsalem, Drorit Hochner Celnikier, Eitan Kerem, Joel Reit |
The clinical utility of sequencing the entirety of CFTR. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2024 5 . Molly B Sheridan, Melis A Aksit, Kymberleigh Pagel, Kurt Hetrick, Hannah Shultz-Lutwyche, Ben Myers, Kati J Buckingham, Rhonda G Pace, Hua Ling, Elizabeth Pugh, Wanda K O'Neal, Michael J Bamshad, Ronald L Gibson, Michael R Knowles, Scott M Blackman, Garry R Cutting, Karen S Rarai |
Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations. Saudi medical journal 2024 5 45 (5): 541. Eman A Al Abdulsal |
Association between arachidonate lipoxygenase 15,c.-292 C?>?T gene polymorphism and non-cystic fibrosis bronchiectasis in children: a pilot study on the effects on airway lipoxin A4 and disease phenotype. Italian journal of pediatrics 2024 4 50 (1): 90. Mahitab Morsy Hussein, Eman Mahmoud Fouda, Yasmine Shehab, Enas Samir Nabih, Ahmed Mohamed Osman, Sally Raafat Ish |
Elevated Prostaglandin E Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis. Journal of clinical medicine 2024 4 13 (7): . Silvia Gartner, Jordi Roca-Ferrer, Paula Fernandez-Alvarez, Isabel Lima, Sandra Rovira-Amigo, Elena García-Arumi, Eduardo F Tizzano, César Pica |
Predicting weight gain in patients with cystic fibrosis on triple combination modulator. Pediatric pulmonology 2024 4 . Kelly L Stewart, Rhonda Szczesniak, Theodore G Li |
CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis. Heliyon 2024 4 10 (7): e28984. Angélica Martínez-Hernández, Elvia C Mendoza-Caamal, Namibia G Mendiola-Vidal, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Juan Luis Jiménez-Ruiz, Tulia Monge-Cazares, Humberto García-Ortiz, Cecilia Contreras- Cubas, Federico Centeno-Cruz, Carmen Alaez-Verson, Soraya Ortega-Torres, Adriana Del C Luna-Castañeda, Vicente Baca, José Luis Lezana, Lorena Oroz |
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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