Human Genome Epidemiology Literature Finder
Reproductive and Child Health
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Records 1 - 30 (of 106 Records) |
| Query Trace: Prenatal Testing Or Prenatal Screening[original query] |
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| Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China. Journal of medical biochemistry 2022 Jul 41 (3): 341-346. Li XiaoZe, Wang LiHong, Yao ZeRong, Ruan FangYing, Hu ZhiPeng, Song WenX |
| A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X. Journal of clinical medicine 2022 8 11 (16): . Demko Zachary, Prigmore Brittany, Benn Pet |
| Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities. Molecular biology reports 2022 8 49 (10): 9251-9256. Guo Nan, Cai Meiying, Lin Min, Xue Huili, Huang Hailong, Xu Liang |
| Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study. American journal of human genetics 2022 6 109 (6): 1140-1152. van Prooyen Schuurman Lisanne, Sistermans Erik A, Van Opstal Diane, Henneman Lidewij, Bekker Mireille N, Bax Caroline J, Pieters Mijntje J, Bouman Katelijne, de Munnik Sonja, den Hollander Nicolette S, Diderich Karin E M, Faas Brigitte H W, Feenstra Ilse, Go Attie T J I, Hoffer Mariëtte J V, Joosten Marieke, Komdeur Fenne L, Lichtenbelt Klaske D, Lombardi Maria P, Polak Marike G, Jehee Fernanda S, Schuring-Blom Heleen, Stevens Servi J C, Srebniak Malgorzata I, Suijkerbuijk Ron F, Tan-Sindhunata Gita M, van der Meij Karuna R M, van Maarle Merel C, Vernimmen Vivian, van Zelderen-Bhola Shama L, van Ravesteyn Nicolien T, Knapen Maarten F C M, Macville Merryn V E, Galjaard Robert-Jan H, |
| [Detection rate and clinical significance of regions of homozygosity in prenatal genetic diagnosis]. Zhonghua fu chan ke za zhi 2022 4 57 (4): 271-277. Zhu L F, Zhang H M, Mai L H, Sun X F, Liu W |
| Confirmed non-invasive prenatal testing for foetal Rh blood group genotyping along with bi-allelic short insertion/deletion polymorphisms as a positive internal control. Transfusion medicine (Oxford, England) 2022 3 32 (2): 141-152. Armstrong-Fisher Sylvia, Koushki Khadijeh, Mashayekhi Kazem, Urbaniak Stanislaw J, van der Schoot Ellen, Varzi Ali Mohamm |
| The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation. Indian journal of endocrinology and metabolism 2022 3 25 (6): 532-537. Sridhar Subbiah, Govindhan Ramajayam, Soundian Balasankar, Poomarimuthu Maheshkumar, Nallan Karuppasamy, Kumar Santhanakrishnan Ramesh, Eagappan Subbiah, Natarajan Vasanthiy, Jayaraman Sanguma |
| RHD exon 5, 7 and 10 targeted non-invasive prenatal screening of fetal Rhesus-D (RhD) in selected RhD negative pregnant women in Ethiopia. PloS one 2022 3 17 (3): e0265583. Niguse Birhanu, Ermias Mihertab, Berhanu Solomon, Abayneh Lemma, Chakiso Bekele, Rather Riyaz Ahm |
| Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies. American journal of medical genetics. Part A 2022 2 188 (5): 1426-1434. Chen Yisheng, Lu Loukaiyi, Zhang Ying, Wang Feifei, Ni Yinghua, Wang Qiang, Ying Chunm |
| Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing. Journal of clinical laboratory analysis 2022 12 37 (1): e24827. Huang Quanfei, Liu Yanhui, Lei Wei, Liang Jiajie, Wang Yang, Zheng Minhua, Huang Xiaoyan, Liu Yuanru, Huang Kaisheng, Huang M |
| Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. Clinical chemistry 2022 12 69 (2): 160-167. Becking Ellis C, Linthorst Jasper, Patton Simon, Gutowska-Ding Weronika, Goodall Rebecca, Khawaja Farrah, Morgan Fiona, Deans Zandra, Chitty Lyn S, Bekker Mireille N, Scheffer Peter G, Sistermans Erik |
| Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience. BMC medical genomics 2022 12 15 (1): 268. Liang Bin, Yu Donghong, Zhao Wantong, Wang Yan, Wu Xiaoqing, Chen Lingji, Lin Na, Huang Hailong, Xu Liang |
| [Genetic analysis of a case with a supernumerary marker derived from chromosome 9]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1410-1414. Zhuang Qianmei, Yan Meizhen, Jiang Yuying, Chen Xinying, Zhang Na, Lyu Chunling, Wu Jialing, Wang Yuanb |
| Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms. The Journal of molecular diagnostics : JMD 2023 8 25 (9): 682-691. Yanlin Wang, Xiang Qiu, Songchang Chen, Dong Pan, Renyi Hua, Shuyuan Li, Yiyao Chen, Nina Pan, Xiaoqiang Cai, Jianli Li, Xin Zhao, Jing Wang, Ruilin Jing, Guangxin Xiang, Zhiwei Zhang, He-Feng Huang, Chenming Xu, Jinglan Zha |
| [Prenatal diagnosis of two fetuses with Xp22.31 microdeletion syndrome indicated by non-invasive prenatal testing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (8): 928-932. Rui Wang, Meixia Xi, Youhua Wei, Li Wei, Wenjuan Zhu, Yan L |
| Performance of noninvasive prenatal testing for twin pregnancies in South China. Journal of assisted reproduction and genetics 2023 7 . Dongmei Wang, Haishan Peng, Yixia Wang, Yaping Hou, Fangfang Guo, Juan Zhu, Tingting Hu, Jiexia Ya |
| Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG 2023 7 . Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni |
| Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue. Journal of clinical medicine 2023 6 12 (12): . Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, Andrea Busnelli, Nicoletta Di Simone, Eleonora Pulcinelli, Giorgia Schettini, Giovanni Scambia, Marcella Zolli |
| Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China. Scientific reports 2023 5 13 (1): 7242. Meiying Cai, Na Lin, Nan Guo, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Shuqiong He, Xianguo Fu, Liangpu Xu, Hailong Hua |
| Cases of RhD variants RhD*DAU2/DAU6 and RhD*weak D type 4.1 in pregnant women in Saudi Arabia. Acta bio-medica : Atenei Parmensis 2023 3 94 (S1): e2023080. Owaidah Amani, Aljuhani Khadijah, Albasri Jasem, Alsulmi Eman, Alsaihati Taibah, Alzahrani Fais |
| Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism-Based Prenatal Cell-Free DNA Screening. Obstetrics and gynecology 2023 3 . Goldring Georgina, Trotter Cindy, Meltzer Jeffrey T, Souter Vivienne, Pais Lynn, DiNonno Wendy, Xu Wenbo, Weitzel Jeffrey N, Vora Neeta |
| [Genetic analysis of a fetus with mosaicism Y chromosome aberration]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 10 40 (11): 1414-1419. Fanrong Meng, Duan Ju, Xiuyan Wang, Yunfang Shi, Meng Yang, Xiaozhou |
| Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles. Genetic testing and molecular biomarkers 2023 10 27 (10): 319-324. Jayden Jackson, Justin Farajzadeh, Robert Turner, Kevin Yukutake, Eric Baghdasaryan, Emily St Denis, Tigran Barseghyan, Pamela Herrera, Sajo Begaj, Marvin Pietruszka, Yadira Valles-Ayo |
| The uncertainty of copy number variants: pregnancy decisions and clinical follow up. American journal of obstetrics and gynecology 2023 1 . Shi Panlai, Liang Hongbin, Hou Yaqin, Chen Duo, Ren Huanan, Wang Conghui, Xia Yanjie, Zhang Da, Leigh Don, Cram David S, Kong Xiangdo |
| Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing. World journal of pediatrics : WJP 2024 9 . Jun-Jun Qiu, Xing-Yu Chang, Ning Zhang, Luo-Pei Guo, Shuai Wang, Wei-Yue Gu, Yi-Meng Yin, Zhi-Wen Shi, Ke-Qin H |
| Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype. The Journal of international medical research 2024 8 52 (8): 3000605241271837. Liu Ouyang, Yan Li, Fangfang Liu, Qin Ze |
| Efficiency of Non-Invasive Prenatal Testing in Detecting Fetal Copy Number Variation: A Retrospective Cohort Study. International journal of women's health 2024 10 16 1661-1669. Li Yang, Jing Yang, Guosen Bu, Rui Han, Jiamila Rezhake, Xiaolin |
| A genome-wide association study of neonatal metabolites. Cell genomics 2024 10 4 (10): 100668. Quanze He, Hankui Liu, Lu Lu, Qin Zhang, Qi Wang, Benjing Wang, Xiaojuan Wu, Liping Guan, Jun Mao, Ying Xue, Chunhua Zhang, Xinye Cao, Yuxing He, Xiangwen Peng, Huanhuan Peng, Kangrong Zhao, Hong Li, Xin Jin, Lijian Zhao, Jianguo Zhang, Ting Wa |
| First Report of Filipino ?-Thalassemia/?-Thalassemia in a Chinese Family. Hemoglobin 2024 1 1-5. Meihuan Chen, Aixiang Lv, Siwen Zhang, Junhao Zheng, Min Zhang, Lingji Chen, Qianqian He, Jianlong Zhuang, Na Lin, Liangpu Xu, Hailong Hua |
| Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting. Scientific reports 2024 1 14 (1): 238. Mengmeng Li, Na Hao, Yulin Jiang, Huili Xue, Yifang Dai, Mingming Wang, Junjie Bai, Yan Lv, Qingwei Qi, Xiya Zh |
- Page last reviewed:Feb 1, 2024
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