Search Results - "Tong, Tony M F"

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong by Luk, H M, Lo, Ivan F M, Fu, K H, Lui, Colin H T, Tong, Tony M F, Chan, Daniel H C, Lam, Stephen T S

“…Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed…”
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A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia by Tsoi, Ho, Yu, Allen C S, Chen, Zhefan S, Ng, Nelson K N, Chan, Anne Y Y, Yuen, Liz Y P, Abrigo, Jill M, Tsang, Suk Ying, Tsui, Stephen K W, Tong, Tony M F, Lo, Ivan F M, Lam, Stephen T S, Mok, Vincent C T, Wong, Lawrence K S, Ngo, Jacky C K, Lau, Kwok-Fai, Chan, Ting-Fung, Chan, H Y Edwin

“…Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the…”
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A young woman with mucocutaneous pigmentation and intestinal polyps by Luk, H M, Lo, Ivan F M, Yu, Kelvin M C, Tong, Tony M F, Lam, Stephen T S

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Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong by Luk, H M, Lo, Ivan F M, Lai, Carmen W S, Ma, Louis C K, Tong, Tony M F, Chan, Daniel H C, Lam, Stephen T S

“…With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular…”
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PROTEOLIPID PROTEIN 1 GENE MUTATION IN CHINESE PATIENTS WITH PELIZAEUS-MERZBACHER DISEASE by Jiang, Yuwu, Wang, Jingmin, Wu, Ye, Tong, Tony M. F., Lam, Stephen T. S., Yang, Yanling, Qin, Jiong, Wu, Xiru

“…INTRODUCTION: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder that presents with nystagmus, impaired motor development, ataxia, and…”
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Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong by Yu, Kris P. T., Luk, Ho‐Ming, Leung, Gordon K. C., Mak, Christopher C. Y., Cheng, Shirley S. W., Hau, Edgar W. L., Chan, David K. H., Lam, Stephen T. S., Tong, Tony M. F., Chung, Brian H. Y., Lo, Ivan F. M.

“…RASopathies are a group of genetic disorders due to dysregulation of the RAS‐MAPK signaling pathway, which is important in regulating cell growth,…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene by Lam, Albert C. F., Chan, Daniel H. C., Tong, Tony M. F., Tang, Mary H. Y., Lo, Steven Y. F., Lo, Ivan F. M., Lam, Stephen T. S.

“…We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22‐week fetus. Two novel compound heterozygous…”
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Silver-Russell syndrome in Hong Kong by Luk, H M, Yeung, K S, Wong, W L, Chung, B Hy, Tong, T Mf, Lo, I Fm

“…To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely…”
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The nail points to the diagnosis by Tong, Stephanie YK, Luk, HM, Tong, Tony MF, Lo, Ivan FM

“…[...]it was considered to be pathogenic.3 Figure 3. DNA sequence chromatographs of the patient. (a) A heterozygous c.175T[greater than]C mutation in exon 2 of…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene by LAM, Albert C. F, CHAN, Daniel H. C, TONG, Tony M. F, TANG, Mary H. Y, LO, Steven Y. F, LO, Ivan F. M, LAM, Stephen T. S

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Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome by Tong, Tony M F, Hau, Edgar W L, Lo, Ivan F M, Chan, Daniel H C, Lam, Stephen T S

“…Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the…”
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Prader–Willi Syndrome: 16-Year Experience in Hong Kong by Lo, Ivan F.M., Luk, Ho Ming, Tong, Tony M.F., Lai, Kent K.S., Chan, Daniel H.C., Lam, Albert C.F., Chan, David K.H., Hau, Edgar W.L., Fung, Connie O.Y., Lam, Stephen T.S.

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Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong by Luk, HM, Lo, Ivan FM, Fu, KH, Lui, Colin HT, Tong, Tony MF, Chan, Daniel HC, Lam, Stephen TS

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The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia by Tong, Stephanie Y K, Luk, H M, Tong, Tony M F, Lo, Ivan F M

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Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA) by Lai, Kent K.S., Lo, Ivan F.M., Tong, Tony M.F., Cheng, Lydia Y.L., Lam, Stephen T.S.

“…To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in…”
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Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax by Luk, H M, Tong, T Mf, Lo, I Fm

“…High-resolution computed tomography of the thorax for all showed multiple thin-walled pulmonary cysts of variable size on both sides, mainly located at the…”
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High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation by Lam, Albert C.F., Lam, Stephen T.S., Lai, Kent K.S., Tong, Tony M.F., Chau, T.C.

“…(1) To evaluate the prevalence of subtelomeric deletion in moderate to severe mental retardation population, (2) to assess the feasibility and…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T inRMRPgene by Lam, Albert C. F., Chan, Daniel H. C., Tong, Tony M. F., Tang, Mary H. Y., Lo, Steven Y. F., Lo, Ivan F. M., Lam, Stephen T. S.

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Triple-A syndrome--the first Chinese patient with novel mutations in the AAAS gene by Lam, Y Y, Lo, Ivan F M, Shek, C C, Tong, Tony M F, Ng, D K K, Tong, T F, Choi, M S, Lam, Stephen T S, Ho, C S

“…We report on the first Chinese patient with triple-A syndrome, who presented at 22 months with status epilepticus secondary to hyponatraemia and hypoglycaemia…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene by Lam, Albert C. F., Chan, Daniel H. C., Tong, Tony M. F., Tang, Mary H. Y., Lo, Steven Y. F., Lo, Ivan F. M., Lam, Stephen T. S.

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