Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 68 Records) |
| Query Trace: Azoospermia and CFTR[original query] |
|---|
| Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population. Andrology 2017 Aug . Yang B, Wang J, Zhang W, Pan H, Li T, Liu B, Li H, Wang |
| Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Human mutation 2017 8 38 (11): 1592-1605. Oud Manon S, Ramos Liliana, O'Bryan Moira K, McLachlan Robert I, Okutman Özlem, Viville Stephane, de Vries Petra F, Smeets Dominique F C M, Lugtenberg Dorien, Hehir-Kwa Jayne Y, Gilissen Christian, van de Vorst Maartje, Vissers Lisenka E L M, Hoischen Alexander, Meijerink Aukje M, Fleischer Kathrin, Veltman Joris A, Noordam Michiel |
| A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population. Iranian biomedical journal 2018 Jul . Asadi Fatemeh, Mirfakhraie Reza, Mirzajani Farzaneh, Khedri Az |
| [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 |
| X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. Scientific reports 2018 11 8 (1): 16280. Khan Muhammad Jaseem, Pollock Nijole, Jiang Huaiyang, Castro Carlos, Nazli Rubina, Ahmed Jawad, Basit Sulman, Rajkovic Aleksandar, Yatsenko Alexander |
| 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 |
| SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens. BioMed research international 2019 4 2019 3562719. Wu Yi-No, Chen Kuo-Chiang, Wu Chien-Chih, Lin Ying-Hung, Chiang Han-S |
| Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles. Andrology 2019 2 7 (3): 329-340. Yuan P, Liang Z K, Liang H, Zheng L Y, Li D, Li J, Zhang J, Tian J, Lai L H, Zhang K, He Z Y, Zhang Q X, Wang W |
| Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis. World journal of clinical cases 2019 12 7 (22): 3757-3764. Caldrer Sara, Bergamini Gabriella, Sandri Angela, Vercellone Silvia, Rodella Luca, Cerofolini Angelo, Tomba Francesco, Catalano Filippo, Frulloni Luca, Buffelli Mario, Tridello Gloria, de Jonge Hugo, Assael Baroukh Maurice, Sorio Claudio, Melotti Pao |
| Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic. Andrology 2019 12 8 (3): 645-653. Mieusset Roger, Bieth Eric, Daudin Myriam, Isus Francois, Delaunay Boris, Bujan Louis, Monteil Laetitia, Fauquet Isabelle, Huyghe Eric, Hamdi Safouane |
| Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens. Andrology 2019 Dec . Pagin Adrien, Bergougnoux Anne, Girodon Emmanuelle, Reboul Marie-Pierre, Willoquaux Christelle, Kesteloot Maryse, Raynal Caroline, Bienvenu Thierry, Humbert Mathilde, Lalau Guy, Bieth Er |
| The association between variants in the CFTR gene and nonobstructive male infertility: A meta-analysis. Andrologia 2019 Dec e13475. Yang Luchen, Ren Zhengju, Yang Bo, Zhou Jing, Peng Zhufeng, Fang Kun, Wang Linchun, Liu Shengzhuo, Lu Dongliang, Dong Qia |
| Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series. Reproductive biomedicine online 2019 Aug . Smits Roos M, Oud Manon S, Vissers Lisenka E L M, Lugtenberg Dorien, Braat Didi D M, Fleischer Kathrin, Ramos Liliana, D'Hauwers Kathleen W |
| Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility. Annals of Saudi medicine 0 40 (4): 321-329. AlMaghamsi Talal, Iqbal Naeem, Al-Esaei Nabil Abdullrahman, Mohammed Muhsina, Eddin Kamel Zein, Ghurab Fatima, Moghrabi Nabil, Heaphy Emily, Junaid Isl |
| Mutation analysis of the cystic fibrosis transmembrane conductance regulator gene in Chinese congenital absence of vas deferens patients. Gene 2020 Aug 145045. Luo Shaoge, Feng Jiarong, Zhang Yanan, Yang Xiaojian, Ma Gongchao, Hu Tengfei, Xi Yu, Tu Xuchong, Wang Chunlin, Zhang Hui, Zou Zijun, Zhang Y |
| First custom next-generation sequencing infertility panel in Latin America: design and first results. JBRA assisted reproduction 2020 3 24 (2): 104-114. Lorenzi Daniela, Fernández Cecilia, Bilinski Melina, Fabbro Mónica, Galain Micaela, Menazzi Sebastián, Miguens Mariana, Perassi Pamela Nicotra, Fulco María Florencia, Kopelman Susana, Fiszbajn Gabriel, Nodar Florencia, Papier Serg |
| 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 |
| Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients. Human reproduction (Oxford, England) 2020 12 36 (3): 551-559. Rudnik-Schöneborn S, Messner M, Vockel M, Wirleitner B, Pinggera G-M, Witsch-Baumgartner M, Murtinger M, Kliesch S, Swoboda M, Sänger N, Zschocke J, Tüttelmann |
| Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men. Andrology 2020 Oct . Fedder Jens, Jørgensen Mette W, Engvad Bir |
| Stereological properties of seminiferous tubules in infertile men with chromosomal and genetic abnormalities. Minerva endocrinology 2021 7 47 (1): 11-22. Mokos Mislav, Planini? Ana, Bili? Katarina, Katuši? Bojanac Ana, Sin?i? Nino, Buli? Jakuš Florijana, Ježek Dav |
| Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF. Andrologia 2021 12 54 (3): e14355. Li Qiang, Shen Yan, Zhao Li Jiang, Wang Jin Bao, Huang Xia |
| CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family. Asian journal of andrology 2021 11 24 (4): 416-421. Ghouchanatigh Mahdieh Daliri, Khan Ranjha, Mojarrad Majid, Hameed Uzma, Zubair Muhammad, Waqas Ahmed, Jalali Mohsen, Kalantari Mahmoudreza, Shamsa Ali, Zhang Huan, Shi Qing-H |
| Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†. Biology of reproduction 2021 Oct . Tan Mao-Qing, Huang Wu-Jian, Lan Feng-Hua, Xu Yong-Jun, Zheng Mei-Yu, Tang Yi |
| Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis. Asian journal of andrology 2022 Jun . Hou Jian-Wen, Li Xiao-Liang, Wang Li, Dai Cong-Ling, Li Na, Jiang Xiao-Hui, Tan Yue-Qiu, Tian Er-Po, Li Qin-Tong, Xu Wen-Mi |
| 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 |
| Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations. Frontiers in genetics 2022 11 13 1035468. Fang Jianzheng, Wang Xiaoyi, Sun Xueping, Cui Yugui, Diao Feiyang, Yang Xiao |
| Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing. Asian journal of andrology 2022 Oct . Liu Yu-Jun, Zhuang Xin-Jie, An Jian-Ting, Jiang Hui, Li Rong, Qiao Jie, Yan Li-Ying, Zhi |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
- Content source: