Resultados de búsqueda - "comparative genomics"

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive dec... por Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Chien-Ling Chiu, Wayseen Wang

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Genome sequence of Shigella flexneri strain SP1, a diarrheal isolate that encodes an extended-spectrum β-lactamase (ESBL) por Ping Shen, Jianzhong Fan, Lihua Guo, Jiahua Li, Ang Li, Jing Zhang, Chaoqun Ying, Jinru Ji, Hao Xu, Beiwen Zheng, Yonghong Xiao

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Emergence of novel hypervirulent Acinetobacter baumannii strain and herpes simplex type 1 virus in a case of community-acquired pneumonia in China por Qiujing Wang, Haiyang Liu, Yue Yao, Hangfei Chen, Zhejuan Yang, Haibo Xie, Rongna Cui, Huasheng Liu, Chuner Li, Weiping Gong, Yunsong Yu, Xiaoting Hua, Shibo Li

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Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound por Chih-Ping Chen, Shu-Yuan Chang, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang

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Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in mosaic trisomy 20 at amniocentesis in a pregnancy with a favorable outcome por Chih-Ping Chen, Yi-Hui Lin, Peih-Shan Wu, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Chen-Chi Lee, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang

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Genetic Comparison of ESBL-Producing <i>Escherichia coli</i> from Workers and Pigs at Vietnamese Pig Farms por Duong Thi Quy Truong, Yaovi Mahuton Gildas Hounmanou, Son Thi Thanh Dang, John Elmerdahl Olsen, Giang Thi Huong Truong, Nhat Thi Tran, Flemming Scheutz, Anders Dalsgaard

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A global transcriptional view of apoptosis in human T-cell activation por Windgassen Dirk, Wang Min, Papoutsakis Eleftherios T

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Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus por Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a de novo deletion of 4q34.1→qter associated with low PAPP-A and low PlGF in the first-trimester maternal serum scr... por Chih-Ping Chen, Shin-Wen Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother por Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang

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Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report por Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca

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Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong por Claudia Ching Yan Chung, Kelvin Yuen Kwong Chan, Pui Wah Hui, Patrick Kwok Cheung Au, Wai Keung Tam, Samuel Kai Man Li, Gordon Ka Chun Leung, Jasmine Lee Fong Fung, Marcus Chun Yin Chan, Ho Ming Luk, Annisa Shui Lam Mak, Kwok Yin Leung, Mary Hoi Yin Tang, Brian Hon Yin Chung, Anita Sik Yau Kan

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Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial poly... por Chih-Ping Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Yu-Ting Chen, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang

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[Translated article] Melanoma Arising in Plaque-Type Blue Nevus and Dermal Melanocytosis: Diagnostic and Prognostic Value of BAP1 por C. Requena, V. Traves, E. Ferrandis, M. Antón Almero, Z. García-Casado, E. Manrique-Silva, Á. Santos Briz, P. Escalonilla, E. Nagore

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Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies por Dan Sun, Yan Liu, Wei Cai, Jiehui Ma, Kun Ni, Ming Chen, Cheng Wang, Yongchu Liu, Yuanyuan Zhu, Zhisheng Liu, Feng Zhu, Feng Zhu

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Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome por Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Chen-Wen Pan, Wayseen Wang

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Melanoma sobre nevus azul en placa o sobre melanocitosis dérmicas: utilidad diagnóstica y pronóstica del BAP1 por C. Requena, V. Traves, E. Ferrandis, M. Antón Almero, Z. García-Casado, E. Manrique-Silva, Á. Santos Briz, P. Escalonilla, E. Nagore

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<i>Vibrio</i> Phage VMJ710 Can Prevent and Treat Disease Caused by Pathogenic MDR <i>V. cholerae</i> O1 in an Infant Mouse Model por Naveen Chaudhary, Balvinder Mohan, Harpreet Kaur, Vinay Modgil, Vishal Kant, Alka Bhatia, Neelam Taneja

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Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 mic... por Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang

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Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia por Zuzanna Kozłowska, Zuzanna Owsiańska, Joanna P. Wroblewska, Apolonia Kałużna, Andrzej Marszałek, Yogen Singh, Bartłomiej Mroziński, Qian Liu, Justyna A. Karolak, Paweł Stankiewicz, Gail Deutsch, Marta Szymankiewicz-Bręborowicz, Tomasz Szczapa

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