Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Efficiency and CFTR[original query] |
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| Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. Clinical genetics 2001 Jan 59 (1): 42-7. Scotet V, De Braekeleer M, Audrézet M P, Lodé L, Verlingue C, Quéré I, Mercier B, Duguépéroux I, Codet J P, Moineau M P, Parent P, Férec |
| [Neonatal screening for cystic fibrosis]. Anales españoles de pediatría 2002 Jul 57 (1): 60-5. Tellería Orriols J J, Alonso Ramos M J, Garrote Adrados J A, Fernández Carvajal I, Blanco Quirós |
| Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis. Acta paediatrica (Oslo, Norway : 1992) 2002 91 (1): 82-7. Padoan R, Genoni S, Moretti E, Seia M, Giunta A, Corbetta |
| Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. Journal of andrology 0 28 (4): 541-7. Radpour Ramin, Gourabi Hamid, Gilani Mohamad Ali Sadighi, Dizaj Ahmad Vosou |
| CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. PloS one 2014 9 (2): e89094. Zi?tkiewicz Ewa, Rutkiewicz Ewa, Pogorzelski Andrzej, Klimek Barbara, Voelkel Katarzyna, Witt Mich |
| Ayurgenomics for stratified medicine: TRISUTRA consortium initiative across ethnically and geographically diverse Indian populations. Journal of ethnopharmacology 2016 Jul . Prasher Bhavana, Varma Binuja, Kumar Arvind, Khuntia Bharat Krushna, Pandey Rajesh, Narang Ankita, Tiwari Pradeep, Kutum Rintu, Guin Debleena, Kukreti Ritushree, Dash Debasis, , Mukerji Mita |
| A simple, fast and inexpensive method for mutation scanning of CFTR gene. BMC medical genetics 2017 May 18 (1): 58. Figueredo Lago Juan Emilio, Armas Cayarga Anny, González González Yaimé Josefina, Collazo Mesa Tere |
| Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum. Journal of medical biochemistry 2017 3 34 (1): 46-51. Ivády Gergely, Koczok Katalin, Madar Laszlo, Gombos Eva, Toth Izabella, Gyori Klaudia, Balogh Istv |
| The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens. Gene 2018 Jun . Bai Song, Du Qiang, Liu Xiaoliang, Tong Yuxin, Wu B |
| False negatives in the newborn screening for Cystic Fibrosis in Western Andalusia: Results from a 10- year experience. Pediatric pulmonology 2022 Oct . Escudero-Ávila Rocío, Pecellín Carmen Delgado, Valera María José Moreno, Hernández Laura Carrasco, Gallego María Esther Quintana, Pecellín Isabel Delga |
| 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 |
| 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 |
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