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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 | 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 |
| 3 | Molecular basis of von Hippel-Lindau syndrome in Chinese patients显示文摘背景 Von Hippel-Lindau ( VHL )症候群是预先安排的正染色体的主导的家庭癌症症候群影响个人到在用南部的汉语的 VHL 的基因基础大部分是的各种各样的 organs.The 的多重瘤 unknown.In 这研究,我们在九无关的南部的中国 families.Methods 描绘了 VHL 的变化光谱有 VHL 的临床的特征的九 probands ,二征兆并且八个无征状的家庭成员在这 study.Prenatal | SIU Wai-kwan MA Ronald Ching-wan LAM Ching-wan MAK Chloe Miu YUEN Yuet-ping LO Fai-man Ivan CHAN Kin-wan LAM Siu-fung LING Siu-cheung TONG Sui-fan SO Wing-yee CHOW Chun-chung TANG Mary Hoi-yin TAM wing-hung CHAN Albert Yan-wo | 2011 | Chinese Medical Journal2011，，2： | 6 |
| 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 | 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 |
| 6 | Activities of hydrocolloids as inhibitors of acrylamide formation in model systems and fried potato strips显示文摘 | Xiaohui Zeng Ka-Wing Cheng Yegang Du Ricky Kong Clive Lo Ivan K. Chu Feng Chen Mingfu Wang | 2010 | Food Chemistry2010，，2： | 1 |
| 7 | Antibacterial activity of peptides and folding variants from milk proteins 显示文摘 | Ivan Lo 'pez- Expo 'sito Isidrar Recio | 2006 | International Dairy Journal2006，16，11： | 1 |
| 8 | Functional characterization of key structural genes in rice flavonoid biosynthesis显示文摘 | Chun Hat Shih Hung Chu Lee Kwan Tang Wataru Sakamoto Masahiko Maekawa Ivan K. Chu Mingfu Wang Clive Lo | 2008 | Planta2008，，6： | 1 |
| 9 | Phylogeny of Murray Valley encephalitis virus in Australia and Papua New Guinea显示文摘Objective:To study the genetic diversity of Murray Valley encephalitis virus(MVEV) in Australia and Papua New Guinea.Methods:MVEV envelope gene sequences were aligned using Clustal X and manual editing was performed with Bioedit.ModelTest v.3.7 was used to select the simplest evolutionary model that adequately fitted the sequence data.Maximum likelihood analysis was performed using PhyML.The phylogenetic signal of the dataset wa.s investigated by the likelihood mapping analysis.The Bayesian phylogenetic tree was built using BEAST.Results:The phylogenetic trees showed two main clades.The clade Ⅰincluding eight strains isolated from West Australia.The clade Ⅱ was characterized by at least four epidemic entries,three of which localized in Northern West Australia and one in Papua New Guinea.The estimated mean evolutionary rate value of the MVEV envelope gene wa.s0.407 × 10^(-3) substitution/site/year(95%HPD:0.623 × 10~4-0.780× 10^(-3)).Population dynamics defines a relative constant population until the year 2000.when a reduction occurred,probably due to a bottleneck.Conclusions:This study has been useful in supporting the probable connection between climate changes and viral evolution also by the vector point of view:multidisciplinary monitoring studies are important to prevent new viral epidemics inside and outside new endemic areas. | Eleonora Cella Ivan Gabrielli Gianguglielmo Zehender Marta Giovanetti Alessandra Lo Presti Alessia Lai Giordano Dicuonzo Silvia Angeletti Marco Salemi Massimo Ciccozzi | 2016 | Asian Pacific Journal of Tropical Medicine2016，9，4： | 1 |
| 10 | Prophylactic embolization of hepatic artery pseudoaneurysm after blunt abdominal trauma in a child显示文摘 | Ivan Khoo Yi Fiona Lim Pin Miao Janice Wong K.L. Narasimhan Richard H.G. Lo Low Yee David Alexander Stringer Anette Jacobsen Sundfor | 2010 | Journal of Pediatric Surgery2010，，4： | 1 |
| 11 | Developing a risk assessment model for construction safety显示文摘 | FUNG Ivan W H TAM Vivian W Y LO Tommy Y | | 0，，28： | 1 |
| 12 | Analysis of the Viability of an Urban Renewal Project under a Risk-Based Option Pricing Framework显示文摘 | Eddie Chi-man Hui Ivan Man-hon Ng Kak-keung Lo | 2011 | Journal of Urban Planning and Development2011，137，： | 1 |
| 13 | 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 |
| 14 | PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome显示文摘 | Siu-Fong June Or Ming-for Tony Tong Fai-Man Ivan Lo Chi-Wai Law Ting-Yat Miu Delphine Trochet Tak-Sum Stephen Lam | 2006 | Chinese Medical Journal2006，，20： | 0 |
| 15 | From trees to fleas: masting indirectly affects flea abundance on a rodent host显示文摘Mast seeding causes strongfluctuations in populations of forest animals.Thus,this phenomenon can be used as a natural experiment to examine how variation in host abundance affects parasite loads.We investigatedfleas infesting yellow-necked mice in beech forest after 2 mast and 2 non-mast years.We tested 2 mutually exclusive scenarios:(1)as predicted by classical models of density-dependent transmission,an increase in host density will cause an increase in ectoparasite abundance(defined as the number of parasites per host),versus(2)an increase in host density will cause a decline inflea abundance(“dilution,”which is thought to occur when parasite population growth is slower than that of the host).In addition,we assessed whether masting alters the relationship between host traits(sex and body mass)andflea abundance.We found a hump-shaped relationship between host andflea abundance.Thus,the most basic predictions are too simple to describe ectoparasite dynamics in this system.In addition,masting modified seasonal dynamics offlea abundance,but did not affect the relationship between host traits andflea abundance(individuals with the highest body mass hosted the mostfleas;after controlling for body mass,parasite abundance did not vary between sexes).Our results demonstrate that pulses of tree reproduction can indirectly,through changes in host densities,drive patterns of ectoparasite infestation. | Ivan BALÁŽ MichałBOGDZIEWICZ Sylwia DZIEMIAN-ZWOLAK Carlotta LO PRESTI Aleksandra WRÓBEL Milena ZDUNIAK RafałZWOLAK | 2023 | Integrative Zoology2023，18，3： | 0 |
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