Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 1055 Records) |
| Query Trace: Cystic Fibrosis[original query] |
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| High Prevalence of Azole-Resistant Aspergillus fumigatus Among Iranian Cystic Fibrosis Patients: Should We Be Concerned? Mycoses 2024 9 67 (9): e13791. Azadeh Bandegani, Mahdi Abastabar, Joobin Sharifisooraki, Zahra Abtahian, Narges Vaseghi, Sadegh Khodavaisy, Atefeh Fakharian, Soheila Khalilzadeh, Mohammad Reza Modaresi, Iman Haghani, Ali Ahmadi, Mona Ghazanfari, Reza Valadan, Hamid Bada |
| The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients. Balkan journal of medical genetics : BJMG 2024 9 27 (1): 31-36. I Kasmi, G Kasmi, B Basholli, H S Sefa, E Vevec |
| Genetic modifiers of body mass index in individuals with cystic fibrosis. American journal of human genetics 2024 9 . Hua Ling, Karen S Raraigh, Elizabeth W Pugh, Melis A Aksit, Peng Zhang, Rhonda G Pace, Anna V Faino, Michael J Bamshad, Ronald L Gibson, Wanda O'Neal, Michael R Knowles, Scott M Blackman, Garry R Cutting, |
| 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 |
| Leukocyte telomere length and attrition in association with disease severity in cystic fibrosis patients. Aging 2024 8 16 (16): 11809-11823. Dries S Martens, Elise J Lammertyn, Pieter C Goeminne, Kristine Colpaert, Marijke Proesmans, Bart M Vanaudenaerde, Tim S Nawrot, Lieven J Dupo |
| 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 |
| Cystic fibrosis risk variants confer protection against inflammatory bowel disease. medRxiv : the preprint server for health sciences 2024 12 . Mingrui Yu, Qian Zhang, Kai Yuan, Aleksejs Sazonovs, Christine Stevens, Laura Fachal, , Carl A Anderson, Mark J Daly, Hailiang Hua |
| Genetic and clinical factors influencing CF-associated liver disease: the impact of SERPINA1 variants and CFTR genotypes in Romanian pediatric cystic fibrosis patients. Medicine and pharmacy reports 2024 11 97 (4): 429-437. Elena-Simona Moiceanu, Iustina Violeta Stan, Simona Elena Mo?escu, Adina Chi?, Romana Vulturar, Daniel-Corneliu Leucu?a, Gabriela Viorela Ni?escu, Maria Iacobescu, Elena M?d?lina Petran, Dan Lucian Dumitra? |
| Polymorphisms of the Vitamin D Binding Protein (VDBP) and Free Vitamin D in Patients with Cystic Fibrosis. Nutrients 2024 11 16 (22): . Paula Quesada-Colloto, Noelia Avello-Llano, Ruth García-Romero, María Garriga-García, Marina Álvarez-Beltrán, Ana Isabel Reyes-Domínguez, Ana Estefanía Fernández-Lorenzo, Helena Gil-Peña, Carlos Gómez-Alonso, Carmen García-Gil-Albert, Saioa Vicente-Santamaria, Luis Peña-Quintana, Juan José Díaz-Martin, José Ramon Gutiérrez-Martínez, Carmen Martin-Fernández, Agustín De la Mano-Hernández, Ana Moreno-Álvarez, David González-Jimén |
| Predictors of Selective Serotonin Reuptake Inhibitor Treatment Failure in Persons With Cystic Fibrosis. Pediatric pulmonology 2024 11 . Rebecca S Pettit, Coleen M Sakon, Kaitlyn E Kinney, Cynthia Brown, Katherine A Gallaway, Sarah A Wagner, Emma M Tillm |
| Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2024 11 . Suzanne Kroes, Marlou C Bierlaagh, Juliet W Lefferts, Alessandra Boni, Danya Muilwijk, Carla Viscomi, Natascha D A Keijzer-Nieuwenhuijze, Luca Cristiani, Paul J Niemöller, Tibo F Verburg, Renato Cutrera, Alessandro G Fiocchi, Vincenzina Lucidi, Cornelis K van der Ent, Jeffrey M Beekman, Federico Alghisi, Fabiana Ciciriel |
| Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis. Annals of the American Thoracic Society 2024 10 . BreAnna Kinghorn, Margaret Rosenfeld, Erin Sullivan, Frankline M Onchiri, Marshall D Brown, Rhonda Szczesniak, Thomas W Ferkol, Scott D Sagel, Sharon D Dell, Carlos Milla, Adam J Shapiro, Kelli M Sullivan, Maimoona A Zariwala, Jessica E Pittman, Michael R Knowles, Stephanie D Davis, Margaret W Leigh, |
| Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene. International journal of molecular sciences 2024 10 25 (19): . Anna Efremova, Yuliya Melyanovskaya, Maria Krasnova, Anna Voronkova, Diana Mokrousova, Elena Zhekaite, Nataliya Bulatenko, Oleg Makhnach, Tatiana Bukharova, Sergei Kutsev, Dmitry Goldshtein, Elena Kondratye |
| [Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2024 10 56 (5): 763-774. Ying Tang, Yongbo Zhang, Danhong Wu, Yanhong Lin, Fenghua L |
| CHP2 Modifies Chronic Pseudomonas aeruginosa Airway Infection Risk in Cystic Fibrosis. Annals of the American Thoracic Society 2025 1 . Anna V Faino, William W Gordon, Kati Buckingham, Adrienne M Stilp, Rhonda G Pace, Karen S Raraigh, Joseph M Collaco, Yi-Hui Zhou, Hong Dang, Wanda O'Neal, Michael K Knowles, Garry R Cutting, Margaret Rosenfeld, Michael J Bamshad, Ronald L Gibson, Elizabeth E Blue, |
- Page last reviewed:Feb 1, 2024
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