Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Cystic Fibrosis and KIT[original query] |
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[Genetic testing for cystic fibrosis: evaluation of the Elucigene CF20 kit in blood and buccal cells]. Annales de biologie clinique 0 59 (3): 277-83. Feldmann D, Guittard C, Georges M D, Houdayer C, Magnier C, Claustres M, Couderc |
Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays. Singapore medical journal 2006 Feb 47 (2): 129-33. Zilfalil B A, Sarina S, Liza-Sharmini A T, Oldfield N J, Stenhouse S |
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF. Clinical genetics 2007 Jul 72 (1): 30-8. Schneider M, Hirt C, Casaulta C, Barben J, Spinas R, Bühlmann U, Spalinger J, Schwizer B, Chevalier-Porst F, Gallati |
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición 0 62 (6): 546-52. Chávez-Saldaña Margarita, Yokoyama Emiy, Lezana José Luis, Carnevale Alessandra, Macías Miguel, Vigueras Rosa M, López Marisol, Orozco Lore |
Clinical and genetic features in patients with cystic fibrosis in southwestern iran. Iranian journal of pediatrics 2013 Apr 23 (2): 212-5. Farjadian Shirin, Moghtaderi Mozhgan, Kashef Sara, Alyasin Soheila, Najib Khadijehsadat, Saki Forou |
Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population. Annales de biologie clinique 0 72 (5): 549-54. Sediki Fatima Zohra, Radoui Abdelkarim, Cabet Faiza, Zemani-Fodil Faouzia, Saidi-Mehtar Nadhira, Boudjema Abdall |
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study. Journal of medical case reports 2014 8 339. Dell'Edera Domenico, Benedetto Michele, Gadaleta Gemma, Carone Domenico, Salvatore Donatello, Angione Antonella, Gallo Massimiliano, Milo Michele, Pisaturo Maria Laura, Di Pierro Giuseppe, Mazzone Eleonora, Epifania Annunziata An |
A mast cell-ILC2-Th9 pathway promotes lung inflammation in cystic fibrosis. Nature communications 2017 1 8 14017. Moretti Silvia, Renga Giorgia, Oikonomou Vasilis, Galosi Claudia, Pariano Marilena, Iannitti Rossana G, Borghi Monica, Puccetti Matteo, De Zuani Marco, Pucillo Carlo E, Paolicelli Giuseppe, Zelante Teresa, Renauld Jean-Christophe, Bereshchenko Oxana, Sportoletti Paolo, Lucidi Vincenzina, Russo Maria Chiara, Colombo Carla, Fiscarelli Ersilia, Lass-Flörl Cornelia, Majo Fabio, Ricciotti Gabriella, Ellemunter Helmut, Ratclif Luigi, Talesa Vincenzo Nicola, Napolioni Valerio, Romani Luigi |
CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations. Journal of reproduction & infertility 0 19 (1): 3-9. Karimi Nasibeh, Alibakhshi Reza, Almasi Shekouf |
Exome sequencing of Saudi Arabian patients with ADPKD. Renal failure 2019 9 41 (1): 842-849. Al-Muhanna Fahad A, Al-Rubaish Abdullah M, Vatte Chittibabu, Mohiuddin Shamim Shaikh, Cyrus Cyril, Ahmad Arafat, Shakil Akhtar Mohammed, Albezra Mohammad Ahmad, Alali Rudaynah A, Almuhanna Afnan F, Huang Kai, Wang Lusheng, Al-Kuwaiti Feras, Elsalamouni Tamer S Ahmed, Al Hwiesh Abdullah, Huang Xiaoyan, Keating Brendan, Li Jiankang, Lanktree Matthew B, Al-Ali Amein |
Association of Serum TGF-?1 Levels with Different Clinical Phenotypes of Cystic Fibrosis Exacerbation. Lung 2020 1 198 (2): 377-383. Sagwal Swati, Chauhan Anil, Kaur Jyotdeep, Prasad Rajendra, Singh Meenu, Singh Man |
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed? Genes 2021 5 12 (5): . Mekki Chadia, Aissat Abdel, Mirlesse Véronique, Mayer Lacrosniere Sophie, Eche Elsa, Le Floch Annick, Whalen Sandra, Prud'Homme Cecile, Remus Christelle, Funalot Benoit, Castaigne Vanina, Fanen Pascale, de Becdelièvre Al |
Phenotypic Presentations of Cystic Fibrosis in Children of African Descent. Genes 2021 4 12 (3): . Mayer Lacrosniere Sophie, Gerardin Michele, Clainche-Viala Laurence Le, Houdouin Veroniq |
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 |
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