Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 838 Records) |
Query Trace: CFTR[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 |
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort. PloS one 2023 8 18 (8): e0288336. Gioia Quarantani, Anna Sorgente, Massimo Alfano, Giovanni Battista Pipitone, Luca Boeri, Edoardo Pozzi, Federico Belladelli, Filippo Pederzoli, Anna Maria Ferrara, Francesco Montorsi, Anna Moles, Paola Carrera, Andrea Salonia, Giorgio Casa |
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 |
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2023 8 . Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed, Muhammad Nadeem Anjum, Sadaqat Ijaz, Muhammad Arshad Alvi, Syeda Sara L Bat |
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 |
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 |
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 |
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 |
Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination. International journal of molecular sciences 2023 6 24 (12): . Karina Kleinfelder, Valeria Rachela Villella, Anca Manuela Hristodor, Carlo Laudanna, Giuseppe Castaldo, Felice Amato, Paola Melotti, Claudio Sor |
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea. Diagnostics (Basel, Switzerland) 2023 6 13 (12): . Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang By |
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 |
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 |
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 |
Linking pathogenic and likely pathogenic gene variants to long-COVID symptoms. European review for medical and pharmacological sciences 2023 12 27 (6 Suppl): 20-32. C Micheletti, M C Medori, K Dhuli, P E Maltese, S Cecchin, G Bonetti, F Fioretti, L Assoni, A Calzoni, A Praderio, M G De Angelis, K Donato, G Arabia, L Lorusso, P Manganotti, E Capelli, G Marceddu, M Bertelli, S Noda |
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 |
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 |
Association of glycated hemoglobin with risk of pancreatic cancer in high-risk individuals based on genetic and family history. Clinical and translational gastroenterology 2023 10 . Bechien U Wu, Qiaoling Chen, Becky H Moon, Eva Lustigova, Erin G Nielsen, Monica Alvarado, Syed A Ahm |
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 |
A Comprehensive Genetic Study of Microtubule-Associated Gene Clusters for Male Infertility in a Taiwanese Cohort. International journal of molecular sciences 2023 10 24 (20): . Chying-Chyuan Chan, Te-Hsin Yen, Hao-Chen Tseng, Brang Mai, Pin-Kuan Ho, Jian-Liang Chou, Gwo-Jang Wu, Yu-Chuan Hua |
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 |
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 |
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:Apr 22, 2024
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