Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 53 Records) |
Query Trace: Congenital Bilateral Absence Of The Vas Deferens[original query] |
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Association between cystic fibrosis transmembrane conductance regulator gene mutations and susceptibility for childhood asthma in Korea. Yonsei medical journal 2010 Nov 51 (6): 912-7. Kim Kyung Won, Lee Ji Hyun, Lee Min Goo, Kim Kyung Hwan, Sohn Myung Hyun, Kim Kyu-Ea |
Screening of ?F508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD. Andrologia 2012 May 44 Suppl 1 376-82. Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami-Ben Hamida A, Feki-Chakroun N, Bahloul A, Fakhfakh F, Ammar-Keskes |
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 |
The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis. Journal of medical screening 2011 18 (4): 169-72. Peleg Leah, Karpati Mazal, Bronstein Silvia, Berkenstadt Michal, Frydman Moshe, Yonath Hagith, Pras El |
Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens. Genetic testing and molecular biomarkers 2012 Apr 16 (4): 292-6. Saldaña-Alvarez Yolanda, Jiménez-Morales Silvia, Echevarría-Sánchez Mirna, Jiménez-Ruíz Juan Luis, García-Cavazos Ricardo, Velázquez-Cruz Rafael, Carnevale Alessandra, Orozco Lore |
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Human reproduction (Oxford, England) 2012 Jan 27 (1): 25-35. Yu Jianmin, Chen Zhanghui, Ni Ya, Li Zhongxia |
The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. Asian journal of andrology 2012 Sep 14 (5): 687-90. Ni Wu-Hua, Jiang Lei, Fei Qian-Jin, Jin Jian-Yuan, Yang Xu, Huang Xue-Fe |
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders. Journal of medical genetics 2013 Feb . Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, des Georges M, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E |
Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens. Journal of clinical bioinformatics 2014 4 11. Xu Xuting, Zheng Jufen, Liao Qi, Zhu Huiqing, Xie Hongyan, Shi Huijuan, Duan Shiw |
Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure. Gene 2014 Sep 548 (1): 43-7. Sharma Himanshu, Mavuduru Ravimohan S, Singh Shrawan Kumar, Prasad Rajend |
The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens. BioMed research international 2014 2014 689185. Du Qiang, Li Zheng, Pan Yongfeng, Liu Xiaoliang, Pan Bochen, Wu B |
Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia. Turkish journal of medical sciences 2014 44 (2): 347-51. Ocak Zeynep, Üyetüork U?ur, Dinçer Muhammet Mur |
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders? Journal of human genetics 2014 Apr 59 (4): 206-10. Martinez Brigitte, Heller Marion, Gaitch Natacha, Hubert Dominique, Burgel Pierre-Regis, Levy Philippe, Girodon Emmanuelle, Bienvenu Thier |
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 |
Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study. Andrologia 2016 Mar . Fathy M, Ramzy T, Elmonem M A, Amer M, Zeidan A, Hassan F A, Mehaney D |
The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens. Andrologia 2017 Aug . Gaikwad A, Khan S, Kadam S, Kadam K, Dighe V, Shah R, Kulkarni V, Kumaraswamy R, Gajbhiye |
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 |
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 |
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 |
[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 |
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 |
Congenital bilateral absence of the vas deferens (CBAVD): do genetic disorders modify assisted reproductive technologies outcomes? Archivos espanoles de urologia 2019 Dec 72 (10): 1038-1042. Gallego Ángel, Rogel Ramón, Pérez-Ardavín Javier, Lorenzo Laura, Lujan Saturnino, Oltra Silvestre, Molina Inmaculada, Broseta Enriq |
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 |
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis. Orphanet journal of rare diseases 2020 6 15 (1): 150. Liu Keqiang, Xu Wenshuai, Xiao Meng, Zhao Xinyue, Bian Chun, Zhang Qianli, Song Jiaxing, Chen Keqi, Tian Xinlun, Liu Yaping, Xu Kai-Feng, Zhang X |
[Correlation between CFTR 5T polymorphisms and the risk of congenital bilateral absence of the vas deferens]. Zhonghua nan ke xue = National journal of andrology 2019 Mar 25 (3): 231-237. Zhao Guo-Guo, Sun Hong-Bo, Zhi Hui-Jie, Wang Fan, Wu Qiu-Yue, Xia Xin-Yi, Xu Xiao-Fe |
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 |
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 |
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China. Scientific reports 2023 1 13 (1): 64. Qu Xiaowei, Li Lingyi, Cui Chenchen, Feng Ke, Xia Yanqing, Wan Feng, Zhang Cuilian, Guo Haib |
- Page last reviewed:Feb 1, 2024
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