Результати пошуку - "Molecular Cytogenetics"

Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality за авторством 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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Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10) за авторством Chih-Ping Chen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Wayseen Wang

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Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis за авторством Chih-Ping Chen, Fang-Yu Hung, Shin-Wen Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Schu-Rern Chern, Chen-Chi Lee, Meng-Shan Lee, Wayseen Wang

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Molecular cytogenetic characterization of de novo concomitant proximal 21q deletion of 21q11.2q21.3 and distal Xp deletion of Xp22.33p22.2 due to an unbalanced X;21 translocation detected by amniocentesis за авторством Chih-Ping Chen, Shin-Wen Chen, Chao-Yun Wu, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang

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Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3→pter) and Partial Monosomy 13q (13q33.3→qter) Associated With Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly за авторством Chih-Ping Chen, Ming Chen, Yi-Ning Su, Fuu-Jen Tsai, Schu-Rern Chern, Chin-Yuan Hsu, Pei-Chen Wu, Dai-Dyi Town, Dong-Jay Lee, Gwo-Chin Ma, Wayseen Wang

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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 21q21.1-q21.2 and 5-Mb deletion of 21q22.3 за авторством 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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Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability за авторством Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Meng-Shan Lee, Wayseen Wang

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Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly за авторством Chih-Ping Chen, Jian-Pei Huang, Yi-Yung Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang

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De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: Prenatal diagnosis and molecular cytogenetic characterization за авторством Chih-Ping Chen, Chung-Hu Fu, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Meng-Shan Lee, Wayseen Wang

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Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion за авторством Chih-Ping Chen, Yi-Ning Su, Yi-Yung Chen, Jun-Wei Su, Schu-Rern Chern, Yu-Ting Chen, Wen-Lin Chen, Li-Feng Chen, Wayseen Wang

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Prenatal diagnosis and molecular cytogenetic characterization of a derivative chromosome der(18;18)(q10;q10)del(18)(q11.1q12.1)del(18)(q22.1q22.3) presenting as apparent isochromosome 18q in a fetus with holoprosencephaly за авторством Chih-Ping Chen, Yau-Kun Kuo, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Pei-Chen Wu, Yu-Ting Chen, Dai-Dyi Town, 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 screening, congenital heart defect on fetal ultrasound and a false negative non-invasive prenatal testing (NIPT) result за авторством 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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Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion за авторством Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang

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Cytogenetics of Domestic Animals: Clinical, Molecular and Evolutionary Aspects

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Analysis of Crop Genetic and Germplasm Diversity

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Plant Genomics 2019 Volume I

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Plant Genomics 2019 Volume II

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Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report за авторством Jing SHA, Fumin LIU, Bei ZHANG, Yang HUANG, Qinglin ZHANG, Gao JUAN, Jingfang ZHAI

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A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature за авторством Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi, Jayesh Sheth

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Superficial CD34-positive Fibroblastic Tumour: Unique Subungual Presentation with Confounding Clinical Findings Resembling Fibrokeratoma-like Bowen's Disease за авторством Christophe Perrin, Florence Pedeutour, Bérengère Dadone-Montaudié, Damien Ambrosetti

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