Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review
作者： Meizhen Yuan , Linbei Deng , Yingjun Yang , Luming Sun
DOI: 10.1111/AHG.12360
关键词:
摘要: … Expanded noninvasive prenatal testing (NIPT-plus) was elected as a regular prenatal … The NIPT-plus results for seven fetuses were low risk. All cryptic aberrations were detected …
sci-hub.se 参考文章(43)
Williams-Beuren syndrome. The New England Journal of Medicine. ,vol. 362, ,(2010) , 10.1056/NEJMC1001965
Yakup Ergul, Kemal Nisli, Hulya Kayserili, Birsen Karaman, Seher Basaran, Bulent Koca, Umrah Aydogan, Rukiye Eker Omeroglu, Aygun Dindar, Cardiovascular abnormalities in Williams syndrome: 20 years'experience in Istanbul. Acta Cardiologica. ,vol. 67, pp. 649- 655 ,(2012) , 10.1080/AC.67.6.2184667
Xuan Huang, Jing Zheng, Min Chen, Yangyu Zhao, Chunlei Zhang, Lifu Liu, Weiwei Xie, Shuqiong Shi, Yuan Wei, Dongzhu Lei, Chenming Xu, Qichang Wu, Xiaoling Guo, Xiaomei Shi, Yi Zhou, Qiufang Liu, Ya Gao, Fuman Jiang, Hongyun Zhang, Fengxia Su, Huijuan Ge, Xuchao Li, Xiaoyu Pan, Shengpei Chen, Fang Chen, Qun Fang, Hui Jiang, Tze Kin Lau, Wei Wang, None, Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies Prenatal Diagnosis. ,vol. 34, pp. 335- 340 ,(2014) , 10.1002/PD.4303
Harry Kontos, Emmanouil Manolakos, Pantelis Malligiannis, Nicolaos Plachouras, Nikolaos Ploumis, Markos Mihalatos, Sandro Orru, Ema Anastasiadou, Michael B. Petersen, Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening. Prenatal Diagnosis. ,vol. 28, pp. 556- 558 ,(2008) , 10.1002/PD.2020
R. Thomas Collins, Paige Kaplan, Grant W. Somes, Jonathan J. Rome, Long-Term Outcomes of Patients With Cardiovascular Abnormalities and Williams Syndrome American Journal of Cardiology. ,vol. 105, pp. 874- 878 ,(2010) , 10.1016/J.AMJCARD.2009.10.069
Colleen A. Morris, Susan A. Demsey, Claire O. Leonard, Constance Dilts, Brent L. Blackburn, Natural history of Williams syndrome: Physical characteristics The Journal of Pediatrics. ,vol. 113, pp. 318- 326 ,(1988) , 10.1016/S0022-3476(88)80272-5
Ananda L. Roy, Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10 Years Later Gene. ,vol. 492, pp. 32- 41 ,(2012) , 10.1016/J.GENE.2011.10.030
Ellen A Croonen, Willy M Nillesen, Kyra E Stuurman, Gretel Oudesluijs, Ingrid M B M van de Laar, Liesbeth Martens, Charlotte Ockeloen, Inge B Mathijssen, Marga Schepens, Martina Ruiterkamp-Versteeg, Hans Scheffer, Brigitte H W Faas, Ineke van der Burgt, Helger G Yntema, Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings European Journal of Human Genetics. ,vol. 21, pp. 936- 942 ,(2013) , 10.1038/EJHG.2012.285
Giovanni Battista Ferrero, Elisa Biamino, Lorena Sorasio, Elena Banaudi, Licia Peruzzi, Serena Forzano, Ludovica Verdun di Cantogno, Margherita Cirillo Silengo, Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. European Journal of Medical Genetics. ,vol. 50, pp. 327- 337 ,(2007) , 10.1016/J.EJMG.2007.05.005
S.K Danoff, H.E Taylor, S Blackshaw, S Desiderio, TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype Neuroscience. ,vol. 123, pp. 931- 938 ,(2004) , 10.1016/J.NEUROSCIENCE.2003.08.038