Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 74 Records) |
Query Trace: Infertility and CFTR[original query] |
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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 missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. Scientific reports 2017 10 7 (1): 14208. Wedenoja Satu, Khamaysi Ahlam, Shimshilashvili Liana, Anbtawe-Jomaa Shireen, Elomaa Outi, Toppari Jorma, Höglund Pia, Aittomäki Kristiina, Holmberg Christer, Hovatta Outi, Tapanainen Juha S, Ohana Ehud, Kere Ju |
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 |
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 |
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 11 18 (4): 468-475. Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri J P, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet M P, Pagin A, Girodon E, Raynal C, Taulan-Cadars |
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 |
[The incidence of AZF deletions, CFTR mutations and long alleles of the ar CAG repeats during the primary laboratory diagnostics in a heterogeneous group of infertily men]. Urologiia (Moscow, Russia : 1999) 2019 Jul (3): 101-107. Mikhaylenko D S, Sobol I Y, Safronova N Y, Simonova O A, Efremov E A, Efremov G D, Alekseev B Y, Kaprin A D, Nemtsova M |
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 |
Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD. Molecular genetics & genomic medicine 2020 9 8 (11): e1506. Ma Chengquan, Wang Ruyi, Li Tengyan, Li Hongjun, Wang Binb |
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 |
Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population. The European respiratory journal 2020 5 56 (3): . Çolak Yunus, Nordestgaard Børge G, Afzal Shoa |
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 |
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 |
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility. Minerva endocrinology 2021 5 47 (1): 4-10. Precone Vincenza, Notarangelo Angelantonio, Marceddu Giuseppe, D'Agruma Leonardo, Cannarella Rossella, Calogero Aldo E, Cristofoli Francesca, Guerri Giulia, Paolacci Stefano, Castori Marco, Bertelli Matt |
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel. Frontiers in endocrinology 2020 11 605237. Precone Vincenza, Cannarella Rossella, Paolacci Stefano, Busetto Gian Maria, Beccari Tommaso, Stuppia Liborio, Tonini Gerolamo, Zulian Alessandra, Marceddu Giuseppe, Calogero Aldo E, Bertelli Matt |
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 |
Transcriptome and genome sequencing investigating the molecular characteristics of patients with varicocele infertility. Andrologia 2022 Aug e14542. Zhang Chenming, Li Xun, Chen Jianshe, Zhao Lina, Wei Xiao, Dong Yazhou, Sicheng Ma, Sun Zix |
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 |
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 |
The prevalence of common CFTR gene mutations and polymorphisms in infertile Iranian men with very severe oligozoospermia. Journal of medicine and life 2022 Apr 15 (4): 547-556. Jafari Leyla, Safinejad Kyumars, Nasiri Mahboobeh, Heidari Mansour, Houshmand Masso |
Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction. Scientific reports 2022 2 12 (1): 1866. De Geyter Julie, Gallati-Kraemer Sabina, Zhang Hong, De Geyter Christi |
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 |
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 |
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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