Search Results - "Lam, Stephen TS"

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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Lessons learnt from a genetic disease registry in Hong Kong by Lam, S T S, To, C H, Leung, K W, Yip, S P, Lo, I F M, Tsang, K P

“…[...]it provides a systemic index of patients and families with the condition. [...]it helps in the classification and management of patients with the…”
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Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features by Unger, Sheila, Lausch, Ekkehart, Rossi, Antonio, Mégarbané, Andre, Sillence, David, Alcausin, Melanie, Aytes, Antonio, Mendoza-Londono, Roberto, Nampoothiri, Sheela, Afroze, Bushra, Hall, Bryan, Lo, Ivan F.M., Lam, Stephen T.S., Hoefele, Julia, Rost, Imma, Wakeling, Emma, Mangold, Elisabeth, Godbole, Komudi, Vatanavicharn, Nithiwat, Franco, Luis M., Chandler, Kate, Hollander, Sophia, Velten, Tanja, Reicherter, Kerstin, Spranger, Jürgen, Robertson, Stephen, Bonafé, Luisa, Zabel, Bernhard, Superti-Furga, Andrea

“…We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin‐6‐sulfotransferase) in six subjects diagnosed with recessive…”
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A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies by Chung, Brian H.Y., Luk, Ho-ming, Lo, Ivan F.M., Lam, Stephen T.S., Li, Raymond H.W.

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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 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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An everlasting role of genetics and genomics in public health： a meeting report of ACGA-HKSMG International Conference on Genetic and Genomic Medicine 2008 by Chan, Wai-Yee, Lam, Stephen T.S., Wu, Bai-Lin

“…The Association of Chinese Geneticists in America （ACGA） and the Hong Kong Society of Medical Genetics （HKSMG） held their first joint Conference on Genetic and…”
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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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Burton skeletal dysplasia: The second case report by Lo, Ivan F.M., Roebuck, Derek J., Lam, Stephen T.S., Kozlowski, Kazimierz

“…We describe a 2‐year‐old girl with clinical and radiological findings of Burton skeletal dysplasia. This rare disorder shows some similarities to Kniest…”
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