Výsledky vyhledávání - "Sherry Sze Yee Ho"

Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing

Autor: Li Xiong, Mei Zhong, Sherry Sze Yee Ho, Jerry Kok Yen Chan, Tuan Zea Tan, Rui Hua, Mahesh Choolani, Angela N. Barrett

Publikováno v: Prenatal Diagnosis. 35:258-265

Objective To develop an accurate non-invasive prenatal test using next generation sequencing (NGS) for HbE and the four most common β-thalassaemia mutations found in South East Asia (namely −28A > G, CD17A > T, CD41/42(−TTCT) and IVS-II-654C > T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ee4e305262db862f49dfbc542da82f28
https://doi.org/10.1002/pd.4536

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Rapid prenatal diagnosis of common beta-thalassemia mutations in Southeast Asia using pyrosequencing

Autor: Gek Har Leow, Evelyn Siew-Chuan Koay, Leng Kee Ching, Sherry Sze Yee Ho, Lily Chiu, Hai Yang Law, Pei Tee Huan

Publikováno v: Prenatal Diagnosis. 33:1017-1022

Objective Current methods of prenatal diagnosis to detect beta-thalassemia are Sanger sequencing and reverse dot blot. These methods are time-consuming and can prolong assay turnaround time. We aim to develop a sensitive and rapid method to detect 27

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3159af118c74cb22f4365228e17e01b7
https://doi.org/10.1002/pd.4183

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In vivo model to determine fetal-cell enrichment efficiency of novel noninvasive prenatal diagnosis methods

Autor: Sukumar Ponnusamy, Lin Lin Su, Sherry Sze Yee Ho, Huoming Zhang, Y. W. Ng, Yiong Huak Chan, Mahesh Choolani, Aniza Puteri Mahyuddin, A. Venkat, Jerry Kok Yen Chan, Arijit Biswas, Mary Rauff, N. Mohammed

Publikováno v: Prenatal Diagnosis. 28:494-502

Objective To develop an in vivo model to determine fetal-cell enrichment efficiency of novel noninvasive prenatal diagnosis methods. Methods Efficiency of our three-step enrichment protocol was determined in vitro before fetal nucleated red blood cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6167067d9bae2d090e06f3c0526e197
https://doi.org/10.1002/pd.2009

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FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis

Autor: Arijit Biswas, Mahesh Choolani, Sonia Baig, Sherry Sze Yee Ho, Nicholas M. Fisk, K. Razvi, Sukumar Ponnusamy

Publikováno v: MHR: Basic science of reproductive medicine. 13:355-359

Rapid aneuploidy detection methods allow prenatal diagnosis results to be released within 48 h, but not on the same day as the invasive test. We aimed to develop a rapid fluorescence in situ hybridization (FISH) method (FastFISH) that releases accura

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727fb1ef47fc1fc41c8bcf854f2016e3
https://doi.org/10.1093/molehr/gam016

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Microsatellite Markers within —SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis

Autor: Ponnusamy Sukumar, Lily-Lily Chiu, Ashim C. Roy, Samuel S. Chong, Yiong Huak Chan, Evelyn Siew-Chuan Koay, Lin Lin Su, Sherry Sze Yee Ho, Wen Wang, Mary Rauff, Mahesh Choolani, Arijit Biswas

Publikováno v: Clinical Chemistry. 53:173-179

Background: We sought to develop a rapid prenatal diagnostic test for simultaneous detection of HbBarts hydrops fetalis and exclusion of maternal contamination. Methods: We developed a multiplex quantitative fluorescent PCR (QF-PCR) test that detects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca4e29feee86c4afa3f43f92232273b
https://doi.org/10.1373/clinchem.2006.075085

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Application of real-time PCR of sex-independent insertion-deletion polymorphisms to determine fetal sex using cell-free fetal DNA from maternal plasma

Autor: Sherry Sze Yee Ho, Angela N. Barrett, Cecille Laureano Asibal, Henna A. Thadani, Mahesh Choolani, Evelyn Siew-Chuan Koay

Publikováno v: Clinical Chemistry and Laboratory Medicine (CCLM). 53

Background Prenatal diagnosis of sex-linked disorders requires invasive procedures, carrying a risk of miscarriage of up to 1%. Cell-free fetal DNA (cffDNA) present in cell-free DNA (cfDNA) from maternal plasma offers a non-invasive source of fetal g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a7fc1db38a5468b8c5973669927ab17
https://doi.org/10.1515/cclm-2014-0881

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Targeting both rs12979860 and rs8099917 Polymorphisms with a Single-Tube High-Resolution Melting Assay for IL28B Genotyping

Autor: Evelyn Siew-Chuan Koay, Kok-Siong Poon, Cui Wen Chua, Lily Chiu, Sherry Sze Yee Ho, Julian W. Tang

Publikováno v: Journal of Clinical Microbiology. 50:3353-3355

A rapid, duplex, high-resolution melting interleukin-28B gene ( IL28B ) genotyping assay, targeting both rs12979860 and rs8099917 polymorphisms, was developed and validated using 30 DNA samples from healthy volunteers. A linkage study on 300 healthy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e714dfe2f154d435d4871dc278ae8d0
https://doi.org/10.1128/jcm.01718-12

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