Search Results - "comparative genomics"

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a f... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang

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High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty li... by Chih-Ping Chen, Liang-Kai Wang, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang

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Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan by Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin

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Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplicat... by Yung-Yu Yang, Chun-Ting Liu, Li-Fan Pai, Chih-Fen Hu, Shyi-Jou Chen, Shyi-Jou Chen, Wan-Fu Hsu

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Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome by Chih-Ping Chen, Tsang-Ming Ko, Tze-Chien Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wen-Lin Chen, Yun-Yi Chen, Wayseen Wang

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Low-level mosaic trisomy 9 at amniocentesis in a pregnancy associated with a favorable fetal outcome, intrauterine growth restriction, cytogenetic discrepancy between cultured amni... by Chih-Ping Chen, Tsung-Hsuan Lai, Shin-Wen Chen, Schu-Rern Chern, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang

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Mosaic distal 13q duplication due to mosaic unbalanced translocation of 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal out... by Chih-Ping Chen, Fang-Tzu Wu, Shu-Yuan Chang, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang

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Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3 by Jamsheer Aleksander, Sowińska Anna, Simon Dorota, Jamsheer-Bratkowska Małgorzata, Trzeciak Tomasz, Latos-Bieleńska Anna

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High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external gen... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

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Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 18 at amniocentesis in a pregnancy with a favorable fetal outcome and maternal unipa... by Chih-Ping Chen, Jun-Wei Su, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wen-Lin Chen, Meng-Shan Lee, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang

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Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy... by Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang

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Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues by Chih-Ping Chen, Fang-Tzu Wu, Chen-Yu Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Meng-Shan Lee, Yun-Yi Chen, Wayseen Wang

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Genomic Analysis of Two MDR Isolates of <i>Salmonella enterica</i> Serovar Infantis from a Spanish Hospital Bearing the <i>bla</i>_CTX-M-65 Gene with or without <i>fosA3<... by Xenia Vázquez, Javier Fernández, Jesús Rodríguez-Lozano, Jorge Calvo, Rosaura Rodicio, M. Rosario Rodicio

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Prenatal diagnosis of low-level mosaicism for a small supernumerary marker chromosome derived from chromosome 9q (9q13-q21.33) in a pregnancy with a favorable outcome, and cytogene... by Chih-Ping Chen, Liang-Ming Lo, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Li-Feng Chen, Yun-Yi Chen, Wayseen Wang

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Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder by Alhazmi S, Alzahrani M, Farsi R, Alharbi M, Algothmi K, Alburae N, Ganash M, Azhari S, Basingab F, Almuhammadi A, Alqosaibi A, Alkhatabi H, Elaimi A, Jan M, Aldhalaan HM, Alrafiah A, Alrofaidi A

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Genomic imbalances in syndromic congenital heart disease by Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Fabíola Paoli Monteiro, Josiane Souza, Agnes Cristina Fett-Conte, Têmis Maria Félix, Isabella Lopes Monlléo, Vera Lúcia Gil-

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Mosaic 46,XY,der(15)t(6;15)(q25.1;p12)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the un... by Chih-Ping Chen, Shin-Wen Chen, Yi-Yung Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Yun-Yi Chen, Wayseen Wang

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Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell lin... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

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Low-level mosaic trisomy 2 at amniocentesis in a pregnancy associated with positive NIPT and CVS results for trisomy 2, maternal uniparental disomy 2, perinatal progressive decreas... by Chih-Ping Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

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Genes associated with MUC5AC expression in small airway epithelium of human smokers and non-smokers by Wang Guoqing, Xu Zhibo, Wang Rui, Al-Hijji Mohammed, Salit Jacqueline, Strulovici-Barel Yael, Tilley Ann E, Mezey Jason G, Crystal Ronald G

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