Search Results - "Lee, Mianne"

Prevalence of pre-sarcopenia and sarcopenia in Hong Kong Chinese geriatric patients with hip fracture and its correlation with different factors by Ho, A Wh, Lee, M Ml, Chan, E Wc, Ng, H My, Lee, C W, Ng, W S, Wong, S H

“…Sarcopenia and osteoporosis are age-related declines in the quantity of muscle and bone, respectively. Both contribute in disability, fall, and hip fracture in…”
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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population by Yu, Mullin Ho Chung, Chan, Marcus Chun Yin, Chung, Claudia Ching Yan, Li, Andrew Wang Tat, Yip, Chara Yin Wa, Mak, Christopher Chun Yu, Chau, Jeffrey Fong Ting, Lee, Mianne, Fung, Jasmine Lee Fong, Tsang, Mandy Ho Yin, Chan, Joshua Chun Ki, Wong, Wilfred Hing Sang, Yang, Jing, Chui, William Chun Ming, Chung, Patrick Ho Yu, Yang, Wanling, Lee, So Lun, Chan, Godfrey Chi Fung, Tam, Paul Kwong Hang, Lau, Yu Lung, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin

“…Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its…”
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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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Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment by Lai, Sophie H.Y., Duque, Jaime S. Rosa, Chung, Brian Hon-Yin, Chung, Tom Wai-Hin, Leung, Daniel, Ho, Ronnie Siu-Lun, Lee, Raymand, Poon, Rosana W.S., Chua, Gilbert T., Cheong, Kai-Ning, Chui, Martin Man Chun, Lee, Mianne, Tam, Sidney, Him, Andrew Ho Cheuk, Cheng, King-Fai, Ho, Wilson Wai-Shing, Yuen, Kwok-Yung, Lee, Pamela, Lau, Yu-Lung

“…•Isolated cerebral phaeohyphomycosis may require a focus on CARD9 deficiency.•Radiological imaging alone cannot differentiate cerebral fungal lesions from…”
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Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data by Yu, Mullin Ho Chung, Mak, Christopher Chun Yu, Fung, Jasmine Lee Fong, Lee, Mianne, Tsang, Mandy Ho Yin, Chau, Jeffrey Fong Ting, Chung, Patrick Ho-Yu, Yang, Wanling, Chan, Godfrey Chi Fung, Lee, So Lun, Lau, Yu Lung, Tam, Paul Kwong Hang, Tang, Clara Sze Man, Yeung, Kit San, Chung, Brian Hon Yin

“…The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings…”
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Whole genome sequencing in paediatric channelopathy and cardiomyopathy by Kwok, Sit Yee, Kwong, Anna Ka Yee, Shi, Julia Zhuo, Shih, Connie Fong Ying, Lee, Mianne, Mak, Christopher C Y, Chui, Martin, Tsao, Sabrina, Chung, Brian Hon Yin

“…Precision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and…”
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A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome by Willis, Brooke R., Lee, Mianne, Rethanavelu, Kavitha, Fung, Jasmine L. F., Wong, Rosanna M. S., Hui, Peter, Yeung, Kit S., Lo, Ivan F. M., Chung, Brian H. Y.

“…Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder with a wide range of severities. Ninety‐five percent of MFS probands have a mutation…”
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Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis by Chau, Jeffrey Fong Ting, Lee, Mianne, Chui, Martin Man Chun, Yu, Mullin Ho Chung, Fung, Jasmine Lee Fong, Mak, Christopher Chun Yu, Chau, Christy Shuk-Kuen, Siu, Ka Ka, Hung, Jacqueline, Yeung, Kit San, Kwong, Anna Ka Yee, O'Callaghan, Christopher, Lau, Yu Lung, Lee, Chun-Wai Davy, Chung, Brian Hon-Yin, Lee, So-Lun

“…Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and…”
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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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Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies-Experience from a Local Prenatal Diagnostic Laboratory by Lai, Theodora Hei Tung, Au, Leung Kuen Sandy, Lau, Yuen Ting Eunice, Lo, Hei Man, Chan, Kelvin Yuen Kwong, Cheung, Ka Wang, Ma, Teresa Wei Ling, Leung, Wing Cheong, Kong, Choi Wah, Shu, Wendy, So, Po Lam, Kwong, Anna Ka Yee, Mak, Christopher Chun Yu, Lee, Mianne, Chui, Martin Man Chun, Chung, Brian Hon Yin, Kan, Anita Sik Yau

“…Fetal structural congenital abnormalities (SCAs) complicate 2-3% of all pregnancies. Whole-exome sequencing (WES) has been increasingly adopted prenatally when…”
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Development and validation of next generation sequencing based 35-gene hereditary cancer panel by Chan, Wing, Lee, Mianne, Yeo, Zhen Xuan, Ying, Dingge, Grimaldi, Keith A, Pickering, Craig, Yang, Michael M S, Sundaram, Senthil K, Tzang, Lawrence C H

“…Understanding the genetic basis of cancer risk is a major international endeavor. The emergence of next-generation sequencing (NGS) in late 2000's has further…”
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Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report by Lam, H Y, Chan, E Y H, Tung, J Y L, Lee, S L K, Fung, J L F, Lee, M, Chung, B H Y, Ma, A L T

“…Investigations showed normal anion gap metabolic acidosis and hyperkalaemia with a potassium of 7.1 mmol/L but normal serum sodium and renal function…”
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Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy by Lin, Kyle Ying-Kit, Lam, Ching-Wan, Chan, Eugene Yu-Hin, Lee, Mianne, Chung, Brian Hon-Yin, Fung, Cheuk-Wing, Rodenburg, Richard, Licht, Christoph, Lap-Tak Ma, Alison

“…We report a child with biallelic COQ6 variants presenting with familial thrombotic microangiopathy (TMA). A Chinese boy presented with steroid-resistant…”
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PO-03-148 WHOLE GENOME SEQUENCING IN PEDIATRIC CHANNELOPATHY AND CARDIOMYOPATHY by Kwok, Sit-Yee, Shi, Julia Z., Kwong, Anna K., Shih, Fong-Ying, Leung, Hei To, Lee, Mianne, Mak, Christopher, Chui, Martin, Chen, Robin H., Lun, Kin-Shing, Yung, Tak-Cheung, Tsao, Sabrina S., Hon-Yin Chung, Brian

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Modified lifestyle-integrated function exercise training for fall prevention by Lee, Mianne M L, Leung, Florence W Y, Wu, Anna

“…Purposes: To evaluate the effectiveness of modified lifestyle-integrated function exercise (LiFE) training programme in a geriatric day hospital. Methods: Data…”
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Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic by Lee, Mianne, Lui, Adrian C.Y., Mak, Christopher C.Y., Tsang, Mandy H.Y., Fung, Jasmine L.F., Yeung, K.S., Chung, Brian Hon Yin

“…Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a…”
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Simpson-Golabi-Behmel syndrome type 1 with normal birth parameters by Chung, Brian Hon Yin, Yeow, Shu-Ling Sophie, Chan, Joshua Chun Ki, Lee, Mianne

“…A newborn baby born at 34 weeks and 5 days gestation was admitted for prematurity, dysmorphic features and congenital heart defects. Antenatal scan at 21 weeks…”
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A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course by Li, Jennifer Yee‐ming, Ho, Fanny Tsz‐wai, Lee, Mianne, Chan, Joyce, Chung, Brian Hon‐yin, Tung, Joanna Yuet‐ling, Ma, Alison Lap‐tak

“…Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones,…”
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Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review by Wong, G. Y., Hung, Zita G. K., Ho, Karin K. H., Ling, S. C., Fung, Jasmine L. F., Lee, Mianne, Chau, Jeffrey F. T., Ha, S. Y., Chung, Brian H. Y.

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Community occupational therapy service in geriatric day hospital by Chan, Color T Y, Lee, Mianne M L, Leung, Florence W Y, Wu, Anna

“…Purpose: To evaluate the effect of community occupational therapy service and to facilitate future service development. Method: Data of 90 patients who…”
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