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| 1 | A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy显示文摘背景 Duchenne 肌肉发达的营养障碍(DMD ) 和贝克尔肌肉发达的营养障碍(BMD ) 是 X 连接后退的、突变而产生之遗传的混乱。这研究被进行与 Duchenne 或贝克尔在香港中国病人调查 DMD 基因变化的光谱,并且学习遗传型显型肌肉发达的营养障碍(DMD/BMD ) 关联。67 个病人的方法 Aretrospective 评论。结果 23 (34.3%) 病人们在删除上有前;而 5 (7.5%) 病人们在复制上有前。23 (34.3%) 病人们有小变化,包括 17 个点变化和 6 小插入或删除。没有关联在变化和肌肉显型或智力迟钝的类型之间被发现。显著地,更少母亲的搬运人在删除上与前在病人被发现,并且积极家庭历史在有小变化的那些是更普通的。DMD 显型是显著地不在有在 5'' 热点的 exondeletions/duplications 的病人普通,而与智力迟钝联系的所有 4 个小变化位于 3'' ,基因结束。结论在本地中国病人的 DMD exondeletions 的百分比比显著地低通常引用了 60% 。Thisindicated 在到删除上的 DMD 前的倾向的种族或地区性的差别。 | Ivan Fai-man Lo Kent Keung-san Lai Tony Ming-for Tong Stephen Tak-sum Lam | 2006 | Chinese Medical Journal2006，，13： | 21 |
| 2 | Epac2-deficiency leads to more severe retinal swelling, glial reactivity and oxidative stress in transient middle cerebral artery occlusion induced ischemic retinopathy显示文摘Ischemia occurs in diabetic retinopathy with neuronal loss, edema, glial cell reactivity and oxidative stress. Epacs, consisting of Epac1 and Epac2, are c AMP mediators playing important roles in maintenance of endothelial barrier and neuronal functions. To investigate the roles of Epacs in the pathogenesis of ischemic retinopathy, transient middle cerebral artery occlusion(t MCAO) was performed on Epac1-deficient(Epac1-/-) mice, Epac2-deficient(Epac2-/-) mice, and their wild type counterparts(Epac1+/+ and Epac2+/+). Two-hour occlusion and 22-hour reperfusion were conducted to induce ischemia/reperfusion injury to the retina. After t MCAO, the contralateral retinae displayed similar morphology between different genotypes. Neuronal loss, retinal edema and increase in immunoreactivity for aquaporin 4(AQP4), glial fibrillary acidic protein(GFAP), peroxiredoxin 6(Prx6) were observed in ipsilateral retinae. Epac2-/- ipsilateral retinae showed more neuronal loss in retinal ganglion cell layer, increased retinal thickness and stronger immunostaining of AQP4, GFAP, and Prx6 than those of Epac2+/+. However, Epac1-/- ipsilateral retinae displayed similar pathology as those in Epac1+/+ mice. Our observations suggest that Epac2-deficiency led to more severe ischemic retinopathy after retinal ischemia/reperfusion injury. | LIU Jin YEUNG Patrick Ka Kit CHENG Lu LO Amy Cheuk Yin CHUNG Stephen Sum Man CHUNG Sookja Kim | 2015 | Science China(Life Sciences)2015，58，6： | 12 |
| 3 | Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome显示文摘Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the NSD1 gene has been implicated as the major cause of Sotos syndrome, with a predominance of microdeletions reported in Japanese patients. This study was conducted to investigate into the spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. Methods Thirty-six Chinese patients with Sotos syndrome and two patients with Weaver syndrome were subject to molecular testing. Results NSD1 gene mutations were detected in 26 (72%) Sotos patients. Microdeletion was found in only 3 patients, while the other 23 had point mutations (6 frameshift, 8 nonsense, 2 spice site, and 7 missense). Of these, 19 mutations were never reported. NSD1 gene mutations were not found in the two patients with Weaver syndrome. Conclusions Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. Genotype-phenotype correlation showed that patients with microdeletions might be more prone to congenital heart disease but less likely to have somatic overgrowth. The two patients with Weaver syndrome were not found to have NSD1 gene mutations, but the number was too small for any conclusion to be drawn. | Tony M.F. Tong Edgar W.L. Hau Ivan F.M. Lo Daniel H.C. Chan Stephen T.S. Lam | 2005 | Chinese Medical Journal2005，，18： | 10 |
| 4 | THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME显示文摘 | OR SIU-FONG JUNE TONG MING-FOR TONY LO FAI-MAN IVAN LAM TAK-SUM STEPHEN | 2006 | Chinese Medical Journal2006，，1： | 3 |
| 5 | The Hepatitis B e antigen (HBeAg) targets and suppresses activation of the Toll-like receptor signaling pathway显示文摘 | Tali Lang Camden Lo Narelle Skinner Stephen Locarnini Kumar Visvanathan Ashley Mansell | 2011 | Journal of Hepatology2011，，4： | 3 |
| 6 | Conference calls and information asymmetry显示文摘 | Stephen Brown Stephen A. Hillegeist Kin Lo | 2004 | Journal of Accounting and Economics2004，，3： | 2 |
| 7 | IL-25 Induces IL-4, IL-5, and IL-13 and Th2-Associated Pathologies In Vivo显示文摘 | Madeline M. Fort Jeanne Cheung David Yen Joana Li Sandra M. Zurawski Sylvia Lo Satish Menon Teresa Clifford Brisdell Hunte Robin Lesley Tony Muchamuel Stephen D. Hurst Gerard Zurawski Michael W. Leach Daniel M. Gorman Donna M. Rennick | 2001 | Immunity2001，，6： | 2 |
| 8 | Cancer Genome Scanning in Plasma: Detection of Tumor-Associated Copy Number Aberrations, Single-Nucleotide Variants, and Tumoral Heterogeneity by Massively Parallel Sequencing显示文摘 | Chan K C Allen Jiang Peiyong Zheng Yama W L Liao Gary J W Sun Hao Wong John Siu Shing Shun N Chan Wing C Chan Stephen L Chan Anthony T C Lai Paul B S Chiu Rossa W K Lo Y M D | 2013 | Clinical Chemistry2013，，1： | 2 |
| 9 | Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome显示文摘To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin 1 (FBN1) gene Methods Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and the other of neonatal onset Their clinical features were described Mutational analysis of the FBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23-32, where the mutational hotspots for severe forms of Marfan syndrome are located Results Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported mutation Conclusion Taking advantage of the clustering phenomenon of mutations in severe forms of Marfan syndrome, one can identify FBN1 mutations in these patients by first screening the mutational hotspots, thus reducing the effort that would otherwise be much greater because of the size of the | Ivan F.M. LO, Rosanna M.S. WONG, Fanny W.F. LAM, Tony M.F. TONG and Stephen T.S. LAM | 2001 | Chinese Medical Journal2001，，5： | 1 |
| 10 | Use of R^2 in Accounting Research: Measuring Changes in Value Relevance over the Last Four Decades显示文摘 | Brown Stephen Kin Lo and Tom Lys | 1999 | Journal of Accounting and Economics1999，28，2： | 1 |
| 11 | 显示文摘 | Carl FP Robert MS Stephen LO | 2000 | J Hand Surg ( Am)2000，25，4： | 1 |
| 12 | Arthroscopic repair of massive, contracted, immobile rotator cuff tears using single and double interval slides: technique and Preliminary Results显示文摘 | Ian K Y Lo M D Stephen S | 2004 | Arthroscopy: The Journal Of Arthroscopic And Related Surgery2004，20，1： | 1 |
| 13 | Use of R 2 in accounting research: measuring changes in value relevance over the last four decades显示文摘 | Stephen Brown Kin Lo Thomas Lys | 1999 | Journal of Accounting and Economics1999，，2： | 1 |
| 14 | Palliative Radiotherapy for Bone Metastases: An ASTRO Evidence-Based Guideline显示文摘 | Stephen Lutz Lawrence Berk Eric Chang Edward Chow Carol Hahn Peter Hoskin David Howell Andre Konski Lisa Kachnic Simon Lo Arjun Sahgal Larry Silverman Charles von Gunten Ehud Mendel Andrew Vassil Deborah Watkins Bruner William Hartsell | 2011 | International Journal of Radiation Oncology Biology Physics2011，，4： | 1 |
| 15 | Pediatric stroke in the United States and the impact of risk factors 显示文摘 | Lo W Stephens J Fernandez S | 2009 | J Child Neurol2009，24，2： | 1 |
| 16 | Use of R2 inAccounting Research:Measuring Changes in ValueRelevance over the Last four Decades显示文摘 | Stephen Brown Kin Lo Thomas Lys | 1999 | Journal ofAccounting and Economics1999，28，： | 1 |
| 17 | Polylac- tide/ cellulose nanocrystal nanocomposites:Efficient routes for nanofiber modification and effects of nanofiber chemistry on PLA reinforcement显示文摘 | Stephen Spinella Giada Lo Re Bo Liu | 2015 | Polymer2015，65，： | 1 |
| 18 | Transtendon arthroscopic repair of partial-thickness, articular surface tears of the rotator cuff显示文摘 | Ian K.Y Lo Stephen S Burkhart | 2004 | Arthroscopy: The Journal of Arthroscopic and Related Surgery2004，，2： | 1 |
| 19 | Palliative Radiotherapy for Bone Metastases: An ASTRO Evidence-Based Guideline显示文摘 | Stephen Lutz Lawrence Berk Eric Chang Edward Chow Carol Hahn Peter Hoskin David Howell Andre Konski Lisa Kachnic Simon Lo Arjun Sahgal Larry Silverman Charles von Gunten Ehud Mendel Andrew Vassil Deborah Watkins Bruner William Hartsell | 2011 | International Journal of Radiation Oncology, Biology, Physics2011，，4： | 1 |
| 20 | Prader-Willi Syndrome:16-Year Experience in Hong Kong显示文摘Prader-Willi syndrome(PWS) is an important,wellrecognized syndromic form of neurodevelopmental disorder. The incidence is about 1 in 15,000-25,000 live births,and it affects both males and females(Vogels et al.,2004).The underlying genetic defects occur at an imprinted region on chromosome 15q11-13.Within this region,some genes only express on the maternally inherited chromosome 15,like UBE3A and ATP10C;while other genes only express on the paternally inherited chromosome 15,like MKRN3,MAGEL2, NDN,C15orf2,SNURF-SNRPN,and a number of | Ivan F.M. Lo Ho Ming Luk luksite@gmail.com Tony M.F. Tong Kent K.S. Lai Daniel H.C. Chan Albert C.F. Lam David K.H. Chan Edgar W.L. Hau Connie O.Y. Fung Stephen T.S. Lam | 2012 | Journal of Genetics and Genomics2012，39，4： | 1 |
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