Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 406 Records) |
| Query Trace: Disease and CFTR[original query] |
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| 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 |
| Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing. BMC medical genomics 2023 6 16 (1): 126. Ashish Kumar Singh, Bente Talseth-Palmer, Alexandre Xavier, Rodney J Scott, Finn Drabløs, Wenche Sjurs |
| Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia. Sovremennye tekhnologii v meditsine 2023 6 15 (2): 60-70. M M Litvinova, K F Khafizov, A S Speranskaya, A D Matsvay, A Yu Asanov, K A Nikolskaya, L V Vinokurova, E A Dubtsova, M G Ipatova, T F Mukhina, M A Karnaushkina, D S Bord |
| Disparities and therapeutic advances in cystic fibrosis. Pediatric pulmonology 2023 5 . John B Pal |
| 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 |
| 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 |
| Presumed Pathogenic Germline and Somatic Variants in African American Thyroid Cancer. Thyroid : official journal of the American Thyroid Association 2023 12 . Zachary A Hurst, Sandya Liyanarachchi, Pamela Brock, Huiling He, Fadi Nabhan, Colleen Veloski, Amanda E Toland, Matthew D Ringel, Sissy M Jhia |
| 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 |
| 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 |
| Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2023 10 . Hasan Ba?, Selçuk Di?ibeyaz, Erkin Özta?, Yusuf Aydemir, Tuncer Temel, O?uz Çilingir, Beyhan Durak Aras, Sevilhan Art |
| 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 |
| 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 |
| Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study. Journal of clinical medicine 2024 8 13 (15): . Rossella Mazzilli, Simona Petrucci, Virginia Zamponi, Bianca Golisano, Giulia Pecora, Camilla Mancini, Gerardo Salerno, Laura Alesi, Ilaria De Santis, Fabio Libi, Carla Rossi, Marina Borro, Salvatore Raffa, Vincenzo Visco, Giuseppe Defeudis, Maria Piane, Antongiulio Faggia |
| 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? |
| The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2024 6 . Maisam Abu-El-Haija, Wenying Zhang, Rebekah Karns, Gila Ginzburg, David S Vitale, Peter Farrell, Alexander Nasr, Sherif Ibrahim, Melena D Bellin, Tyler Thompson, Vineet Garlapally, Jessica G Woo, Sohail Z Husain, Lee A Dens |
| 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 |
| Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children. Heliyon 2024 4 10 (7): e27681. Yang Han, Jinhao Zhao, Wenjing Liu, Xiaojian Yang, Wei Zhang, Xiao Xiao, Xiaoge Liu, Xiaoxu Chen, Lixing Tang, Pengpeng Wang, Wentong |
| 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 |
| Study of a panel of genetic mutations in fibrocalcific pancreatic diabetes (FCPD): SPINK1 (N34S) mutation unlikely to be relevant. Scientific reports 2024 12 14 (1): 31829. Vijay Budhwar, Susmita Dutta, Kaushik Pandit, Pradip Mukhopadhyay, Nitai P Bhattacharyya, Sujoy Gho |
| 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? |
| 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 |
| 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 |
| The burden of cystic fibrosis in North Africa. Frontiers in genetics 2024 1 14 1295008. Nada El Makhzen, Houria Daimi, Laila Bouguenouch, Hugues Abri |
| Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis. International journal of molecular sciences 2025 1 26 (1): . Beyza Ozcinar, Zeynep Ocak, Deryanaz Billur, Baris Ertugrul, Ozlem Timirci-Kahram |
- Page last reviewed:Feb 1, 2024
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