Search Results - "comparative genomics"

Genomic profiling distinguishes familial multiple and sporadic multiple meningiomas by Roy Jennifer, Engler David A, Betensky Rebecca A, Plotkin Scott, Mohapatra Gayatry, James Marianne, Stemmer-Rachamimov Anat, Nunes Fabio, Shen Yiping, Ramesh Vijaya, Gusella James F

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SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the <it>VPREB1 </it>marker case by Costa Elena, Donnangelo Anita, Carminati Mario, Valaperta Rea, Rusconi Daniela, de Filippis Tiziana, Passeri Elena, Frigerio Marcello, Persani Luca, Finelli Palma, Corbetta Sabrina

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Exploring virulence and immunogenicity in the emerging pathogen Sporothrix brasiliensis. by Paula Portella Della Terra, Anderson Messias Rodrigues, Geisa Ferreira Fernandes, Angela Satie Nishikaku, Eva Burger, Zoilo Pires de Camargo

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Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21... by Chih-Ping Chen, Yi-Hui Lin, Szu-Yuan Chou, Yi-Ning Su, Schu-Rern Chern, Yu-Ting Chen, Dai-Dyi Town, Wen-Lin Chen, Wayseen Wang

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Low-level mosaic double trisomy involving trisomy 6 and trisomy 20 (48,XY,+6,+20) at amniocentesis without uniparental disomy (UPD) 6 and UPD 20 in a pregnancy associated with a fa... by Chih-Ping Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yen-Ting Pan, Meng-Shan Lee, Wayseen Wang

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Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis by Chih-Ping Chen, Te-Yao Hsu, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

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Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with s... by Chih-Ping Chen, Chen-Ju Lin, Yen-Ni Chen, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome by Chih-Ping Chen, Hsiu-Ting Tsai, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Dai-Dyi Town, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang

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Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang

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First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal... by Chih-Ping Chen, Shun-Long Weng, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Wen-Lin Chen, Chien-Wen Yang, Wayseen Wang

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Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal... by Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Wen-Lin Chen, Chien-Ling Chiu, Wayseen Wang

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Co-transfer of IncFII/IncFIB and IncFII plasmids mediated by IS26 facilitates the transmission of mcr-8.1 and tmexCD1-toprJ1 by Qian Wang, Meng Zhang, Yue Liu, Jinmei Li, Ran Chen, Yueling Wang, Yan Jin, Yuanyuan Bai, Zhen Song, Xinglun Lu, Changyin Wang, Yingying Hao

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Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growt... by Chih-Ping Chen, Shu-Yuan Chang, Liang-Kai Wang, Tung-Yao Chang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Dai-Dyi Town, Li-Feng Chen, Wayseen Wang

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High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis in a pregnancy with a favorable fetal outcome and cytogenetic discrepancy in various tissues by Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Chen-Chi Lee, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang

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Detection of paternal uniparental disomy 9 in a neonate with prenatally detected mosaicism for a small supernumerary marker chromosome 9 and a supernumerary ring chromosome 9 by Chih-Ping Chen, Ming Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Shun-Ping Chang, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang

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Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)... by Chih-Ping Chen, Chen-Yu Chen, Fang-Tzu Wu, Peih-Shan Wu, Yen-Ting Pan, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang

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Low-level mosaic trisomy 9 at amniocentesis associated with a positive non-invasive prenatal testing for trisomy 9, maternal uniparental disomy 9, intrauterine growth restriction a... by Chih-Ping Chen, Tsang-Ming Ko, Shin-Wen Chen, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Chen-Wen Pan, Yun-Yi Chen, Wayseen Wang

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Genome of the avirulent human-infective trypanosome--Trypanosoma rangeli. by Patrícia Hermes Stoco, Glauber Wagner, Carlos Talavera-Lopez, Alexandra Gerber, Arnaldo Zaha, Claudia Elizabeth Thompson, Daniella Castanheira Bartholomeu, Débora Denardin Lückemeyer, Diana Bahia, Elgion Loreto, Elisa Beatriz Prestes, Fábio Mitsuo Lima, Gabriela Rodrigues-Luiz, Gustavo Adolfo Vallejo, José Franco da Silveira Filho, Sérgio Schenkman, Karina Mariante Monteiro, Kevin Morris Tyler, Luiz Gonzaga Paula de Almeida, Mauro Freitas Ortiz, Miguel Angel Chiurillo, Milene Höehr de Moraes, Oberdan de Lima Cunha, Rondon Mendonça-Neto, Rosane Silva, Santuza Maria Ribeiro Teixeira, Silvane Maria Fonseca Murta, Thais Cristine Marques Sincero, Tiago Antonio de Oliveira Mendes, Turán Peter Urmenyi, Viviane Grazielle Silva, Wanderson Duarte DaRocha, Björn Andersson, Alvaro José Romanha, Mário Steindel, Ana Tereza Ribeiro de Vasconcelos, Edmundo Carlos Grisard

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Prenatal diagnosis of mosaic small supernumerary marker chromosome 17 associated with ventricular septal defect, developmental delay, and speech delay by Chih-Ping Chen, Sheng Chiang, Kung-Liahng Wang, Fu-Nan Cho, Ming Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Weu-Lin Chen, Wayseen Wang

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Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus w... by Chih-Ping Chen, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Chen-Chi Lee, Wen-Lin Chen, Yun-Yi Chen, Wayseen Wang

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