Search Results - "Kan, Anita S.Y."

Dysregulation of the CD147 complex confers defective placental development: A pathogenesis of early‐onset preeclampsia by Lee, Cheuk‐Lun, Chen, Zhilong, Zhang, Qingqing, Guo, Yue, Ng, Vivian W.Y., Zhang, Baozhen, Bai, Kunfeng, Ruan, Degong, Kan, Anita S.Y., Cheung, Ka‐Wang, Mak, Annisa S.L., Yeung, William S.B., Su, Rui, Yang, Qing, Chen, Min, Du, Mei‐Rong, Jian, Zhang, Fan, Xiujun, Chiu, Philip C.N.

“…PE is a multifactorial gestational complication affecting 4.6% of pregnancies worldwide.1 It is the top cause of prenatal morbidity/mortality and is associated…”
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Prenatal diagnosis of 5p deletion syndrome: Report of five cases by Mak, Annisa S. L., Ma, Teresa W. L., Chan, Kelvin Y. K., Kan, Anita S. Y., Tang, Mary H. Y., Leung, Kwok Y.

“…It is difficult to prenatally identify 5p deletion (−) syndrome. Here, we report five cases of 5p‐ syndrome diagnosed by invasive prenatal diagnosis. Of them,…”
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Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care by Liu, Anthony P.Y, Chow, Pak-Cheong, Lee, Pamela P.W, Mok, Gary T.K, Tang, Wing-Fai, Lau, Elizabeth T, Lam, Stephen T.S, Chan, Kelvin Y, Kan, Anita S.Y, Chau, Adolphus K.T, Cheung, Yiu-Fai, Lau, Yu-Lung, Chung, Brian H.Y

“…Abstract 22q11.2 deletion syndrome (22q11.2DS) is a multi-systemic disorder with high phenotypic variability. Under-diagnosis in adults is common and…”
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A prospective randomized comparison of sublingual and oral misoprostol when combined with mifepristone for medical abortion at 12–20 weeks gestation by Tang, Oi Shan, Chan, Carina C.W., Kan, Anita S.Y., Ho, Pak Chung

“…BACKGROUND: Sublingual misoprostol has been shown to be effective in medical abortion. A prospective double-blinded placebo-controlled trial was done to…”
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A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling by Luk, H.M, Wong, Vincent C.H, Lo, Ivan F.M, Chan, Kelvin Y.K, Lau, Elizabeth T, Kan, Anita S.Y, Tang, Mary H.Y, Tang, W.F, She, Wandy M.K, Chu, Yoyo W.Y, Sin, W.K, Chung, Brian H.Y

“…Abstract Copy number gain of 17p13.3 has been shown to be associated with developmental delay/autism and Split-Hand-Foot malformation. We report a case of…”
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Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers by Ho, Stephanie K. L., Ng, Samuel Y. L., Yung, Tsz‐Kwai, Mok, Myth T. S., Yiu, Wing‐Chung, Cheng, Heidi H. Y., Cheng, Shirley S. W., Luk, Ho‐ming, Lo, Ivan F. M., Kan, Anita S. Y.

“…Hemophilia A is a rare bleeding disorder with variable expressivity and allelic heterogeneity. Despite the advancement of prenatal diagnostics and molecular…”
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Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong by Cheng, Shirley S. W., Chan, Kelvin Y. K., Leung, Kelphen K. P., Au, Patrick K. C., Tam, Wai‐Keung, Li, Samuel K. M., Luk, Ho‐Ming, Kan, Anita S. Y., Chung, Brian H. Y., Lo, Ivan F. M., Tang, Mary H. Y.

“…Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), autistic…”
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Human placental exosomes induce maternal systemic immune tolerance by reprogramming circulating monocytes by Bai, Kunfeng, Lee, Cheuk-Lun, Liu, Xiaofeng, Li, Jianlin, Cao, Dandan, Zhang, Li, Hu, Duanlin, Li, Hong, Hou, Yanqing, Xu, Yue, Kan, Anita S Y, Cheung, Ka-Wang, Ng, Ernest H Y, Yeung, William S B, Chiu, Philip C N

“…The maternal immune system needs to tolerate the semi-allogeneic fetus in pregnancy. The adaptation occurs locally at the maternal-fetal interface as well as…”
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Optimal timing of hepatitis B virus DNA quantification and clinical predictors for higher viral load during pregnancy by Cheung, Ka W, Seto, Mimi T Y, So, Po L, Wong, Daniel, Mak, Annisa S L, Lau, Wai L, Wang, Weilan, Kan, Anita S Y, Lee, Chin P, Ng, Ernest H Y

“…Authorities publish recommendations on the hepatitis B virus (HBV) viral load threshold to initiate antiviral treatment but the timing of quantification during…”
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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications by Yu, Pui‐Tak, Shu, Wendy, Mok, Sau‐Lan, Hui, Pui‐Wah, Chan, Lin‐Wai, Kwok, Ka‐Yin, Chan, Kelvin Y. K., Lo, Tsz‐Kin, Chung, Brian H. Y., Luk, Ho‐Ming, Kan, Anita S. Y.

“…Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely…”
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Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases by Yu, Florrie N. Y., Li, Elizabeth Y. Y., Kong, Meliza C. W., Ma, Teresa W. L., Chan, Kelvin Y. K., Man, Elim, Chung, Brian H. Y., Kan, Anita S. Y.

“…Bulleted Statements: What's already known about this topic? The incidence of discordant fetal sex was estimated to be 1 in 1500–2000. Comprehensive evaluation…”
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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants by Lee, Mianne, Lui, Adrian C. Y., Chan, Joshua C. K., Doong, Phoenix H. L., Kwong, Anna K. Y., Mak, Christopher C. Y., Li, Raymond H. W., Kan, Anita S. Y., Chung, Brian H. Y.

“…Abstract Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single…”
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Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) by Leung, Gordon K C, Mak, Christopher C Y, Fung, Jasmine L F, Wong, Wilfred H S, Tsang, Mandy H Y, Yu, Mullin H C, Pei, Steven L C, Yeung, K S, Mok, Gary T K, Lee, C P, Hui, Amelia P W, Tang, Mary H Y, Chan, Kelvin Y K, Liu, Anthony P Y, Yang, Wanling, Sham, P C, Kan, Anita S Y, Chung, Brian H Y

“…Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal…”
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Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong by Kan, Anita S Y, Lau, Elizabeth T, Tang, W F, Chan, Sario S Y, Ding, Simon C K, Chan, Kelvin Y K, Lee, C P, Hui, Pui Wah, Chung, Brian H Y, Leung, K Y, Ma, Teresa, Leung, Wing C, Tang, Mary H Y

“…To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Array CGH was performed on 220…”
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Adrenomedullin has a pivotal role in trophoblast differentiation: A promising nanotechnology-based therapeutic target for early-onset preeclampsia by Zhang, Qingqing, Lee, Cheuk-Lun, Yang, Tingyu, Li, Jianlin, Zeng, Qunxiong, Liu, Xiaofeng, Liu, Zhongzhen, Ruan, Degong, Li, Zhuoxuan, Kan, Anita S Y, Cheung, Ka-Wang, Mak, Annisa S L, Ng, Vivian W Y, Zhao, Huashan, Fan, Xiujun, Duan, Yong-Gang, Zhong, Liuying, Chen, Min, Du, Meirong, Li, Raymond H W, Liu, Pengtao, Ng, Ernest H Y, Yeung, William S B, Gao, Ya, Yao, Yuanqing, Chiu, Philip C N

“…Early-onset preeclampsia (EOPE) is a severe pregnancy complication associated with defective trophoblast differentiation and functions at implantation, but…”
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Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept by Lee, Mianne, Kwong, Anna K. Y., Chui, Martin M. C., Chau, Jeffrey F. T., Mak, Christopher C. Y., Au, Sandy L. K., Lo, Hei Man, Chan, Kelvin Y. K., Yépez, Vicente A., Gagneur, Julien, Kan, Anita S. Y., Chung, Brian H. Y.

“…RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance…”
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The clinical impact of chromosomal microarray on paediatric care in Hong Kong by Tao, Victoria Q, Chan, Kelvin Y K, Chu, Yoyo W Y, Mok, Gary T K, Tan, Tiong Y, Yang, Wanling, Lee, So Lun, Tang, Wing Fai, Tso, Winnie W Y, Lau, Elizabeth T, Kan, Anita S Y, Tang, Mary H, Lau, Yu-Lung, Chung, Brian H Y

“…To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong. We performed NimbleGen 135k…”
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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes by Yeung, Kit San, Yu, Florrie N. Y., Fung, Cheuk Wing, Wong, Sheila, Lee, Hencher H. C., Fung, Sharon T. H., Fung, Genevieve P. G., Leung, Kwok Yin, Chung, Wai Hang, Lee, Yun Ting, Ng, Vivian K. S., Yu, Mullin H. C., Fung, Jasmine L. F., Tsang, Mandy H. Y., Chan, Kelvin Y. K., Chan, Sophelia H. S., Kan, Anita S. Y., Chung, Brian H. Y.

“…Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline…”
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First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family by Hui, Annie S. Y., Au, Patrick K. C., Ting, Yuen-Ha, Kan, Anita S. Y., Cheng, Yvonne K. Y., Leung, Alex W. K., Chan, Kelvin Y. K., Li, Chi-Kong, Tang, Mary H. Y., Leung, Tak-Yeung

“…A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex…”
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A Fetus with Hb Bart's Disease Due to Maternal Uniparental Disomy for Chromosome 16 by Au, Patrick K.C., Kan, Anita S.Y., Tang, Mary H.Y., Leung, Kwok Y., Chan, Kelvin Y.K., Tang, Tommy W.F., Lau, Elizabeth T.

“…We here report an unusual case of Hb Bart's (γ4) disease. Thalassemia screening of a couple showed that the wife was an α 0 -thalassemia (α 0 -thal) carrier…”
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