Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 45 Records) |
| Query Trace: Counseling and CFTR[original query] |
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| Genetic and biochemical markers of obstructive lung disease in the general population. The clinical respiratory journal 2009 Apr 3 (2): 121-2. Dahl Mort |
| Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Human mutation 2011 Aug 32 (8): 912-20. Steiner Bernhard, Rosendahl Jonas, Witt Heiko, Teich Niels, Keim Volker, Schulz Hans-Ulrich, Pfützer Roland, Löhr Matthias, Lühr Matthias, Gress Thomas M, Nickel Renate, Landt Olfert, Koudova Monika, Macek Milan, Farre Antoni, Casals Teresa, Desax Marie-Claire, Gallati Sabina, Gomez-Lira Macarena, Audrezet Marie Pierre, Férec Claude, des Georges Marie, Claustres Mireille, Truninger Kasp |
| Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran. Iranian journal of basic medical sciences 2013 Aug 16 (8): 917-21. Mehdizadeh Hakkak Atieh, Keramatipour Mohammad, Talebi Saeid, Brook Azam, Tavakol Afshari Jalil, Raazi Amin, Kianifar Hamid Re |
| Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers. Molecular human reproduction 2014 Sep 20 (9): 827-35. Sharma H, Mavuduru R S, Singh S K, Prasad |
| 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 |
| 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 |
| Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients. Gene 2015 Jun 564 (2): 193-6. Esmaeili Dooki Mohammad Reza, Tabaripour Reza, Rahimi Razieh, Akhavan-Niaki Hal |
| [CFTR gene sequencing in a group of Chilean patients with cystic fibrosis]. Revista chilena de pediatri?a 2014 Jul 85 (4): 448-54. Lay-Son R Guillermo, Vásquez D Marcos, Puga Y Alonso, Manque M Patricio, Repetto L Gabrie |
| ERRATUM: Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy. Genetics in medicine : official journal of the American College of Medical Genetics 2015 1 17 (1): 93. Authors are not available |
| Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens. American journal of human genetics 2016 Aug 99 (2): 437-42. Patat Olivier, Pagin Adrien, Siegfried Aurore, Mitchell Valérie, Chassaing Nicolas, Faguer Stanislas, Monteil Laetitia, Gaston Véronique, Bujan Louis, Courtade-Saïdi Monique, Marcelli François, Lalau Guy, Rigot Jean-Marc, Mieusset Roger, Bieth Er |
| A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology. The Journal of molecular diagnostics : JMD 2017 09 19 (5): 788-800. Lucarelli Marco, Porcaro Luigi, Biffignandi Alice, Costantino Lucy, Giannone Valentina, Alberti Luisella, Bruno Sabina Maria, Corbetta Carlo, Torresani Erminio, Colombo Carla, Seia Manue |
| Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis. Gene 2017 10 641 137-143. Furgeri Daniela Tenório, Marson Fernando Augusto Lima, Correia Cyntia Arivabeni Araújo, Ribeiro José Dirceu, Bertuzzo Carmen Sílv |
| F508del CFTR gene mutation in patients with allergic bronchopulmonary aspergillosis. The Journal of asthma : official journal of the Association for the Care of Asthma 2017 Oct 1-7. Gamaletsou Maria N, Hayes Gemma, Harris Chris, Brock Joanna, Muldoon Eavan G, Denning David |
| 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 |
| [Homozygous 5T alleles, clinical presentation and genetic analysis within a family with congenital bilateral absence of the vas deferens]. Zhonghua yi xue za zhi 2018 5 98 (18): 1414-1418. Feng J R, Zhang Y N, Wu X, Yang X J, Chen S T, Ma G C, Luo S G, Zhang |
| Disease-modifying genetic factors in cystic fibrosis. Current opinion in pulmonary medicine 2018 3 24 (3): 296-308. Marson Fernando A |
| A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD). Gene 2019 Jul 144007. Feng Jiarong, Wu Xiao, Zhang Yanan, Yang Xiaojian, Ma Gongchao, Chen Shitao, Luo Shaoge, Zhang Y |
| Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul. Pediatric pulmonology 2019 Apr . Atag Emine, Bas Ikizoglu Nilay, Ergenekon Almala Pinar, Gokdemir Yasemin, Eralp Ela Erdem, Ata Pinar, Ersu Refika, Karakoc Fazilet, Karadag Bule |
| Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus. BMC medical genetics 2019 Mar 20 (1): 44. Petrova N V, Kashirskaya N Y, Saydaeva D K, Polyakov A V, Adyan T A, Simonova O I, Gorinova Y V, Kondratyeva E I, Sherman V D, Novoselova O G, Vasilyeva T A, Marakhonov A V, Macek M, Ginter E K, Zinchenko R |
| Haplotype analysis of the CFTR gene on normal and mutant CFTR genes. Mutation research 2020 6 821 111708. Karimi Nasibeh, Bidemeshki Pour Ali, Alibakhshi Reza, Almasi Shekouf |
| Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens. Andrology 2020 Feb . Wang Hongxiang, An Miao, Liu Yidong, Hu Kai, Jin Yan, Xu Shiran, Chen Bin, Lu Muj |
| Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR. Human mutation 2021 7 42 (9): 1165-1172. Nykamp Keith, Truty Rebecca, Riethmaier Darlene, Wilkinson Julia, Bristow Sara L, Aguilar Sienna, Neitzel Dana, Faulkner Nicole, Aradhya Swaro |
| Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center. JBRA assisted reproduction 2022 8 . Soares Célia Azevedo, Tkachenko Natália, Vale-Fernandes Emídio, Barreiro Márcia, Abreu Maria, Reis Cláudia Falcão, Soares Gabriela, Fortuna Ana Maria, Soares Ana Ri |
| The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men. Genes & genomics 2022 Aug . Jafari Leyla, Safinejad Kyumars, Nasiri Mahboobeh, Heidari Mansour, Houshmand Masso |
| Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis. Iranian biomedical journal 2022 4 26 (5): 398-405. Hosseini Nami Amin, Kabiri Mahboubeh, Zeinali Siro |
| Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens. Journal of assisted reproduction and genetics 2022 Feb . Cheng Hongbo, Yang Shenmin, Meng Qingxia, Zheng Bo, Gu Yidong, Wang Luyun, Song Tao, Xu Chunlu, Wang Gaigai, Han Mutian, Shen Liyan, Ding Jie, Li Hong, Ouyang J |
| 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 |
| 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 |
| Predicting weight gain in patients with cystic fibrosis on triple combination modulator. Pediatric pulmonology 2024 4 . Kelly L Stewart, Rhonda Szczesniak, Theodore G Li |
| Genetic diagnosis and outcomes of intracytoplasmic sperm injection in South Chinese patients with congenital bilateral aplasia of the vas deferens. Basic and clinical andrology 2024 10 34 (1): 17. Haishan Hu, Qing Zhou, Yanlin Ma, Lingxiao Zha |
- Page last reviewed:Feb 1, 2024
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