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Cytogenetic Profile of Childhood Acute Lymphoblastic Leukemia in Oman
Udaykumar M Achandira, Department of Genetics, College Of Medicine & Health Sciences, Sultan Qaboos University, Oman
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Genetic Variants of Cyclooxygenase-2: Association with Advanced Colorectal Adenomas
Iqbal U Ali, Division of Cancer Prevention, National Cancer Institute, United States
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DHPLC based method using quasimonomorphic mononucleotide repeats and pentaplex PCR for rapid and accurate MSI analysis in colorectal cancer
Gasper Berginc, Laboratory of Molecular Genetics, Institute of Pathology, Medical Faculty, Slovenia
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Transfection of a PAC contig covering the lung cancer critical region at 3p21.3 discloses the complexity of functional analysis of homozygous deletion regions
Charles HCM Buys, Department of Medical Genetics, University Medical Center Groningen, The Netherlands
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An Integrative Genomics approach in dominant familial Acute Myeloid Leukaemia (AML)
Ms Catherine Carmichael, The Walter and Eliza Hall Institute of Medical Research, Australia
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Cadherin-7 Gene Amplification is Associated with Prostate Cancer
Veronica E Contreras-Shannon, University of TX Health Science Center at San Antonio, San Antonio, TX 78229, Department of Cellular & Structural Biology, United States
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Colorectal cancer in young Africans: do they follow the conventional pathway?
Leandra Cronje, University of the Witwatersrand and The National Health Laboratory Service, South Africa
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Loss of heterozygosity in 8p and 11p as a prognostic marker for patients with transitional cell tumors of the urinary bladder
Delfina Fornari, Department of Pathology, Herlev University Hospital of Copenhagen, Denmark
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Coincidence of evolutionarily plastic regions and cancer breakpoints
Stefan Imreh, Sweden
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UVA and Ionising radiation induce persistent genomic instability and homologous recombination repair in human skin cells
Dr Ursula R Jewell, Christchurch School of Medicine, CGRG, Pathology Department, University of Otago, Christchurch, New Zealand, Germany
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Limited clinical value of regular bone marrow cytogenetic analysis in imatinib-treated patients with chronic myeloid leukaemia (CML) in chronic phase who maintain a major molecular response
Ms Rebecca Lawrence, Institute of Medical and Veterinary Science, Australia
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Construction of eukaryotic expression vector for mouse PS1-GFP
Jiahui Li, Chinese Academy of Medical Sciences, China
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Additional chromosomal anomaly add(7)(q36?) in chronic myeloid leukemia – case report
Agripina G Lungeanu, Romania
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Analysis of MSH2 missense mutations predisposing to HNPCC and Muir-Torre syndrome
Saara Ollila, Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Helsinki, Finland., Finland
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JAK2 V617F mutation presence in hematological malignancies
Spela Stangler Herodez, Maribor Teaching Hospital, Slovenia
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Functional characterization of hMLH1 missense mutations using yeast and in vitro assays
Masanobu Takahashi, Department of Clinical Oncology, IDAC, Tohoku University, Japan
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A new model of support and information for women / men with a BRCA1/2 gene mutation
Ms Laurie Taylor, Association of Genetic Support of Australasia, Australia
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BRCA1 founder mutations unique to South Africa: Genealogical identification of founding couples
Dr Nerina C van der Merwe, Division of Human Genetics, University of the Free State, NHLS, Bloemfontein, South Africa
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Genetic Heterogeneity in Familial AML: A Role for Genes Other Than RUNX1 and CEBPA?
Ella Wilkins, Walter & Eliza Hall Institute of Medical Research, Australia
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Probing for common rearrangements in South African oesophageal squamous cell carcinoma cell lines by dual and multiple colour fluorescent in situ hybridisation
Miss Jacqueline Brown, National Health Laboratory Services/University of the Witwatersrand, South Africa
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Evaluation of the relation between urinary tract infection and ABO blood group antigens
Nasrin Ghasemi, Yazd Shahid Sadoughi Medical Sciences University, Iran
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Leydig cell tumors of the testis: A molecular-cytogenetic study of 25 cases
David Horst, Institute of Pathology, Medical University of Innsbruck, Austria
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Molecular cytogenetic analyses of malignant brain tumor cells
Kyra Michalova, Center of Oncocytogenetics, General Faculty Hospital Prague, Czech Republic
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Recurrent homozygous deletion on chromosome 18q22.3 in prostate cancer
Xavier T Reveles, University of Texas Health Science Center at San Antonio, United States
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Three unrelated clonal cell lines identified by cytogenetic analysis in a patient with acute myeloid leukemia (AML) evolved from a pre-existing polycythemia vera (PV)
D Pal Singh-Kahlon, Genzyme Genetics, United States
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Molecular cytogenetic strategy for the early detection and characterization of Fanconi Anemia-specific MDS- and AML-associated chromosomal imbalances
Dr Holger Tonnies, Institute of Human Genetics, Charité, Universitaetsmedizin Berlin, Berlin, Germany
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A genome-wide association study of early-onset BRCA1/2-negative invasive breast cancer among non-Hispanic Caucasian women
Habibul Ahsan, Columbia University, Mailman School of Public Health, United States
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Prenatal Screening for Down Syndrome: What do Women Want?
Ms Rachel Austin, Griffith University, Brisbane, Australia
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The Bilginturan syndrome is caused by multiple rearrangements on chromosome 12p
Dr Sylvia Bähring, Charité Campus Berlin-Buch, Max-Delbrück Center for Molecular Medicine, Helios Clinics Berlin, Germany
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Rapid translocation breakpoint mapping by ultra-high resolution array painting facilitates direct amplification and sequencing of junction fragments
Miss Deborah C Burford, The Wellcome Trust Sanger Institute, Hinxton, Cambs, UK, United Kingdom
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Type I hereditary hemochromatosis: dominating role of the environmental factors on the appearance of biological signs in patients C282Y/H63D
Claude Férec, INSERM U 613 (INSERM - UBO - EFS), Brest, France
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Cytogenetic fingerprints of past exposure to high LET radiations
Dr Prakash Hande, Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore
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Morpholino antisense oligonucleotide induced dystrophin expression in the mdx mouse
Kaite Honeyman, Experimental Molecular Medicine Group, Centre for Neuromuscular and Neurological Disorders, UWA, Australia
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A five-year cytogenetic review of products of conception cases: Implications for first trimester non-invasive prenatal diagnosis
Mr Christopher Joy, Genetics Department, Queensland Medical Laboratory, Riverview Place, Murarrie, QLD, 4172, Australia
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PSORS2 markers are not associated with psoriatic arthritis in the Italian population
Giuseppe Novelli, Tor Vergata University of Rome, Italy
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Why do de novo t(11;22)s arise only in sperm?: Analysis using a yeast model system
Dr Tamae Ohye, Div Molecular Genetics, Inst Compre Med Sci, Fujita Health Univ, Japan
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Routine Karyotyping for Couples Presenting to an Infertility Clinic
Stephen J Withers, Genesis Clinical Genetics, Australia
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Partial Trisomy 1q Syndrome: Report of a Case
Assoc Dr Dilek Aktas, Hacettepe University, Department of Pediatrics, Division of Genetics, Turkey
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Keipert-Danks syndrome is X-linked and maps to Xq22.2-28
David J Amor, Genetic Health Services Victoria, Australia
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Tissue Inhibitor of Metalloproteinase 2 and Chemokine, CC Motif, Ligand 3 are Novel Molecular Markers to Predict the Development of Coronary Artery Lesions in Kawasaki Disease
Dr Kenji Furuno, Kyushu University, Japan
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Pachydermoperiostosis: A Case Report of a Brazilian Family
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
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Homozygosity for FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome
Ben CJ Hamel, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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A Seven Generation European New Zealand Kindred with Brachydactyly A1:- Molecular and Clinical Study and a Prenatal Diagnosis
Dr Alexa M Kidd, Central and Southern Regional Genetics Services, Wellington Hospital, New Zealand, New Zealand
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Transcriptional Profiling of Maternal Uniparental Disomy 7 cell lines
Dr Cecilia M Lindgren, Clinical Research Centre, Karolinska University Hospital, Dep. of Biosciences, Karolinska Institutet, Sweden
Sara K Bruce, Dep. of Biosciences, Karolinska Institutet, Sweden
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Mutations in ND5 gene rather than PDHE1alpha are associated with thiamine responsive Leigh Syndrome in India
Ms Shalini Mani, Centre for Cellular and Molecular Biology, Hyderabad, India
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Polycystic kidneys, gall bladder abnormalities and other anomalies in siblings: a new syndrome?
Ingrid Meinecke, Queensland Clinical Genetics Service, Brisbane, Australia
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A case of Oculo-Auriculo-Vertebral (OAV) spectrum in a mother and probable VATER association in her daughter: coincidence or connected?
Dr Nicholas Pachter, Genetic Health Services Victoria &, Royal Women’s Hospital, Melbourne, Australia
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Management of children with Phelan-McDermid syndrome
Mary C Phelan, Molecular Pathology Laboratory Network, United States
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Tiling resolution array-CGH for the identification of gene dose imbalances in patients with autism spectrum disorders
Jacqueline Schoumans, Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, Stockholm, Sweden
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A new mental retardation – dysmorphic condition?
Carlos E Steiner, Department of Medical Genetics, State University of Campinas (Unicamp), Brazil
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Defining the phenotype in Floating Harbor syndrome
Susan M White, Genetic Health Services Victoria, Australia
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Enrichment of foetal cells from the blood of pregnant women by fluorescence activated cell sorting
Dr Richard Allman, Genetic Technologies Ltd, Australia
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Validation of the Tulip Classification for Causes of Perinatal Mortality
Katelijne Bouman, University Medical Center Groningen, The Netherlands
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The proform of eosinophil major basic protein (ProMBP) and SP1 are efficient maternal serum markers for Down's syndrome in gestational week 6-8
Michael Christiansen, Statens Serum Institut, Copenhagen, Denmark
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Analysis of Placenta-derived mRNA in maternal plasma during pregnancy
Osamu Samura, Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Hiroshima University,, Japan
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Improved interpretation of aneuploidy screening QF PCR using relevant allele ratio ranges
Andrijana Trninic, Sydney Genetics and Sydney IVF, Australia
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The capillary electrophoresis ability to distinguish and analyse free foetal DNA in maternal plasma using STR loci
Radek Vodicka, Department of Clinical Genetics and Foetal Medicine, University Hospital Olomouc, Czech Republic
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The Search for DNA Mutations Which may Cause Smith - Magenis Syndrome: A project being undertaken at Charles Sturt University, Wagga Wagga in 2006
Miss Kathryn A Addison, Charles Sturt University - Wagga Wagga NSW, Australia
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The Role of TOM1L2 in Smith-Magenis Syndrome
Paula M Hauck, Virginia Commonwealth University, United States
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Identification of cis-Regulatory Elements for MECP2 Expression
Dr Jinglan Liu, Stanford University School of Medicine, Stanford, CA 94305-5323, USA, United States
Dr Uta Francke, Stanford University School of Medicine, Stanford, CA 94305-5323, USA, United States
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Transcription regulation by GTF2IRD1 - A gene deleted in Williams-Beuren Syndrome
Pamela D Thompson, University of Manchester, United Kingdom
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Patient-based genetics scenarios for dietitians: their use for raising awareness and genetics education
Peter A Farndon, NHS National Genetics Education and Development Centre, United Kingdom
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Cross-cultural Counselling- barriers and interventions. A case report of prenatal diagnosis of fetal akinesia deformation sequence for a couple with traditional Islamic beliefs
Mr Ron A Fleischer, Genetic Counselling. Royal North Shore Hospital. St Leonards NSW, Australia
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Education of Latvian medical students in DNA testing
Astrida Krumina, Riga Stradins University, Latvia
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Development of a national genetics resource for general practitioners in Australia
A/Prof Sylvia A Metcalfe, GEM Consortium, Murdoch Childrens Research Institute and Dept Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
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A survey of Australasian genetic counsellor's views on cultural difference and consanguinity
Mrs Helen Mountain, Murdoch University, Australia
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Trisomy 18: Changes in sex ratio during intrauterine life
Dunja Niedrist, Institute of Medical Genetics, University of Zurich, Switzerland
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Prenatal screening and testing for Down syndrome: A pilot study of healthcare professionals' current knowledge and practice
Madelyn Peterson, Australia
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Self help groups: pathological or positive partnership?
Kim M Summers, The University of Queensland, Australia
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Selenoprotein S is associated to coronary heart disease in two independent prospectively followed cohorts
Mervi Alanne, National Public Health Institute - KTL, department of Molecular Medicine, Finland
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Polymorphisms in the Mismatch Repair Genes and Colorectal Cancer Risk in Canadian population
Bharati Bapat, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Canada
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Genetic counselling in the context of a recent cancer diagnosis and Hereditary Non-Polyposis Colorectal Cancer: helpful or harmful? A case report
Dr Kristine Barlow-Stewart, The Centre for Genetics Education, Australia
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Multivariate Mixture Distribution Model to Analyse Twin Data of Unknown Zygosity
Beben Benyamin, Queensland Institute of Medical Research, Australia
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Frequency of haplotypes in the von Willebrand Factor gene in a selected sample of Mexican Mestizo population
Dr Leonor Buentello, Institute of Anthropology Research, UNAM., Mexico
Fabio Salamanca, Unit of Medical Research in Human Genetics. National Medical Center, IMSS, Mexico
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Identification of Men with a Genetic Predisposition to Prostate Cancer: Targeted Screening in BRCA 1 / 2 Mutation Carriers and Controls: the IMPACT study
Dr Georgia Chenevix-Trench, Queensland Institute of Medical Research, Australia
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Prostate Cancer, Sun Exposure and Genes Modifying Risk
Jo L Dickinson, Menzies Research Institute, Australia
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Genome-wide Distribution of Linkage Disequilibrium in Taiwan Aborigines
Ms Dinusha Fernando, Institute of Environmental Science and Research, New Zealand
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High Prevalence of Hypomorphic UGT1A1 Haplotypes in the Singapore Population
Denise L Goh, National University of Singapore, Singapore
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Functional Alleles of a 5-Lipoxygenase Promoter Polymorphism are Associated with Myocardial Infarction
Jaana Hartiala, University of Southern California Keck School of Medicine, United States
Hooman Allayee, University of Southern California Keck School of Medicine, United States
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The Repeat Frequency of Twins Using Two Sets of Census Data in Japan
Dr Yoko Imaizumi, Faculty of Health Science, Hyogo University, Japan
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Association of a newly identified single nucleotide polymorphism (G148T) in the human kallikrein 10 (KLK10) gene with prostate cancer susceptibility
Dr Mary-Anne Kedda, Queensland Institute of Technology, Australia
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Incidence of Smith-Lemli-Opitz syndrome in Poland: preliminary results
MD, PhD Malgorzata Krajewska-Walasek, Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland
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Robotic Microscopy of Amniotic Fluid Cells for the Fully-Automated Quantitation of FISH Signals
Arved Kristjan
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A comparison of two genetic methods for quantitative chimerism analysis after hematopoetic stem cell transplantation
Wolfgang Kühnau, Institute of Human Genetics, Hannover Medical School, Germany
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Power of TDT and AFBAC in genome-wide association studies
Xueying Liang, Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, United States
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Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates
Stuart Macgregor, Queensland Institute of Medical Research, Australia
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Identification of mutations in VWF gene in Mexican patients with von Willebrand disease
Biol Brenda M Melo-Nava, Unit of Human Genetics, IMSS, Mexico City, Mexico
Dra Rosenda I Peñaloza, Unit of Human Genetics, IMSS, Mexico City, Mexico
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MTHFR gene polymorpisms and homocysteine levels in hemodialysis patinets
Ivana Novakovic, Institute of Biology and Hum. Genetics, School of Medicine, University of Belgrade, Belgrade, Yugoslavia
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Occurrences of Chromosomal Abnormalities in Prolonged Human Embryonic Stem Cell (hESC) Cultures
Sun Kyung Oh, IRMP, MRC, Dept. OB&GY, College of medicine, Seoul National University, Korea
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The role of MTHFR polymorphisms and dietary folate in childhood cancer
Dr Anne Ronan, Centre for Clinical Epidemiology and Biostatistics, Faculty of Health, University of Newcastle, Australia, Australia
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A quatitative model of errer accumulation during PCR amplification
Dr Nerina C van der Merwe, Department of Human Genetics, NHLS, South Africa
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Newborn Screening in South Africa
Prof Philip Venter, University of Limpopo, South Africa
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Heritability of Brachymesophalangia-V and Related Phenotypes in an endogamous population from eastern Nepal
Kimberly D Williams, Wright State University School of Medicine, Dayton, OH, United States
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Quality assured first trimester screening for aneuploidies
Mr Michael Bonifacio, Sydney Genetics Sydney IVF, Australia
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Perceptions of Genetic Counselling - A Student's View
Wen Min Cham, Australia
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Screening for autosomal recessive non-syndromic deafness: The Indian story
Giriraj R Chandak, Centre for Cellular and Molecular Biology, India
|
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Subtelomeric Testing by Multiplex Ligation – dependent Probe Amplification (MLPA) in a Diagnostic Setting
Ms Kathy Cox, Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, Australia
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Emerging patterns of cryptic imbalances in patients with idiopathic mental retardation and multiple congenital anomalies: the Leuven experience
Dr Thomy JL de Ravel, Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Belgium
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Integration of Genetics into Breast Cancer Management in South Africa
Dr J Nico P de Villiers, Genecare Molecular Genetics, South Africa
Jaclyn Gerber, Genecare Molecular Genetics, South Africa
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Predictive testing for Huntington disease in Victoria, Australia- 1989-2004
A/Prof Martin B Delatycki, Murdoch Childrens Research Institute, Australia
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Altered Monoamine Oxidase Gene Expression in Response to Alcohol Exposure
Mr Michael Green, Institute of Environmental Science and Research, New Zealand
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The Genetic Testing Quality Control Materials Program (GTQC)-Development of Verified Quality Control Materials for Huntington Disease, Fragile X and Ashkenazi Jewish Panel Genetic Testing
Lisa Kalman, Centers for Disease Control and Prevention, United States
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Developing a genetic clinic in Indonesia
Nanis S Marzuki, Eijkman Institute for Molecular Biology, Jakarta, Indonesia
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Development of a new array-MAPH methodology for detection of copy-number changes and screening of patients with X-linked mental retardation
Dr Philippos C Patsalis, Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, Cyprus
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An audit of a mutation screening service for the 21-hydroxylase gene
Dr Simon Patton, National Genetics Reference Laboratory, Manchester, United Kingdom
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Genetic variants in the epithelial sodium channel and related pathway genes that associate with PPARγ induced fluid retention and oedema in Type 2 diabetic patients receiving Farglitazar
Colin Spraggs, GlaxoSmithKline, United Kingdom
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Benefit and limitations of interphase M-FISH-applications on uncultured amnion cells and polar body biopsies
PD Dr Markus Stumm, Zentrum für Pränataldiagnostik, Kurfürstendamm 199, Berlin, Germany, Germany
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Consanguinity, Life-styles and Longevity among Kurichians: a tribal population of Kerala, India
Dr Parvathi Kumara Reddy Thavanati, Instituto de Genetica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico
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Successes and failures of the GOLD (Genetics of Learning Disability) Service in New South Wales
Prof Gillian Turner, NSW GOLD Service, Hunter Genetics, University of Newcastle, Australia
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Gestational Diabetes: a model for mapping genes involved in Type 2 Diabetes
Dr Alan Wilton, School of Biotechnology and Biomolecular Sciences, University of New South Wales., Australia
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Retrospective review of preimplantation genetic diagnosis (PGD) for carriers of structural chromosome abnormalities
Dale Wright, Sydney IVF, Australia
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Gene expression profiles in Xeroderma Pigmentosum fibroblasts after UV-light exposure
Ms Nikola A Bowden, NISAD/University of Newcastle, Australia
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Challenges and Ethical Issues in Genetic Counselling when seeing multiple family members independently- Two Case Examples
Lisa Bristowe, Liverpool Health Service, Australia
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Incorporating linkage information in testing strategies for genome-wide association studies in family-based designs
Mr David W Fardo, Department of Biostatistics, Harvard School of Public Health, United States
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High resolution detection of copy number changes and LOH using the Affymetrix® 500K Mapping SNP Array on formalin-fixed, paraffin-embedded tumor tissue
Dr Sharoni Jacobs, Affymetrix, Inc, United States
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Upregulation of gene expression is a potential therapeutic strategy for methylmalonic aciduria
Dr Mahmoud S Khaniani, Paediatric Department, Melbourne University,Tabriz University of Medical Science, Iran, Australia
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Regions transcribed in the human germline have characteristic nucleotide substitution patterns
Miss Helen Lindsay, John Curtin School of Medical Research, Australian National University, Australia
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Y-chromosomal and mitochondrial DNA evolutionary patterns in the TBGENENV case-control study of Tuberculosis in West Africa
Edmund Ling, University of Oxford, United Kingdom
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High through-put Targeting Induced Local Lesions In Genomes (TILLING) using Applied Biosystems’ 3730 series capillary electrophoresis system
Andrew M Masel, Applied Biosystems, Brisbane, Australia
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Galaxy2: An interactive platform for genome analysis and tool integration
Anton Nekrutenko, Penn State University, United States
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Word frequency analysis reveals enrichment of dinucleotide repeats on human X chromosome and GATA in the X escape region
Gayle J Pageau, University of Massachusetts Medical School, United States
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Mitosis specific centromere association of phosphorylated RNA polymerase II in human cells
Richard Saffrey, The Murdoch Childrens Research Institute, Royal Children's Hospital, Australia
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Detection of DNA Copy Number Changes using High Density Oligonucleotide Arrays
Michael H Shapero, Affymetrix, United States
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Genotype × Adiposity Interaction Linkage Analyses Reveal a Locus on Chromosome 1 for a Marker of Inflammation and Oxidative Stress
Dr Vincent P Diego, Southwest Foundation for Biomedical Research, United States
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Analysis of familial data in large pedigrees
Dr Stephen Quinn, Menzies Research Institute, University of Tasmania, Australia
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Oxidative Stress in Maple Syrup Urine Disease Patients
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
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Mutational Spectrum of steroid 21-hydroxylase in Australian patients with congenital adrenal hyperplasia: GeneMapper analysis and identification of 6 novel mutations
Mr Ivan N McGown, Mater Laboratory Services, Sth Brisbane, Australia
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Oral miglustat in Niemann-Pick type C (NPC) disease: 1-year interim analysis
Marc C Patterson, Departments of Neurology and Pediatrics, Columbia University, New York, USA, United States
Dr James Edmond Wraith, Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, United Kingdom
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A cohort study of the effects of MTHFR genotypes on homocysteine and folate levels in 1214 elderly women
Dr Richard L Prince, University of Western Australia, Australia
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Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency screening by C8:C10 fatty acid chain ratio
Angela M Sharp, Chemical Pathology , QHPS-RBHC, Australia
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Hearing impairment and deafness: Identification of novel gene loci for the Enlarged Vestibular Aqueduct Syndrome
Ralf Birkenhäger, Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Freiburg, Germany
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Mitochondrial DNA HVII Polymorphisms Inheritance in a Brazilian Population
Dra Cintia Fridman, School of Medicine, University of São Paulo, Brazil
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Association of the Interferon Regulatory Factor 5 (IRF5) with Systemic Lupus Erythematosus in American Whites
Jennifer A Kelly, Oklahoma Medical Research Foundation, United States
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Whole Genome Genotyping on BeadArray™ Technology
Semyon Kruglyak, Illumina, Inc, United States
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MUTATIONS IN THE GENE ENCODING THE PML NUCLEAR BODY PROTEIN Sp110 ARE ASSOCIATED WITH IMMUNODEFICIENCY AND HEPATIC VENO-OCCLUSIVE DISEASE
Dr Tony Roscioli, 1Centre for Vascular Research, University of New South Wales, Sydney; 2Molecular & Cytogenetics Unit, Department of Haematology, Australia
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Locus-wide association study of schizophrenia with 43 genes located in the 5q33.1 region
Hiroki Shibata, Division of Disease Genes, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Japan
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Maping Genes Affecting Age-At-Onset of Alzeihmer's Disease in the Chromosome 8
Dr Jeffery M Vance, Duke University Center for Human Genetics, United States
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Obesity-related traits linked to gene region on chromosome 7 but not to biochemical characteristics of the metabolic syndrome, which are influenced by perinatal factors
Prof Dr Robert Vlietinck, Human Genetics, University of Leuven, Belgium and Population Genetics, University of Maastricht, Netherlands, Belgium
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Analysis of the complement factor H gene in progression of age related macular degeneration
Paul N Baird, Centre for Eye Research Australia, University of Melbourne, Australia
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SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal orgin without obvious paternal age effect
Johann Böhm, Institute of Human Genetics, Freiburg, Germany
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Genetic and clinical study of Spanish families affected by hypertrophic cardiomyopathy
Jose M Garcia-Sagredo, Medical Genetics Dept., University Hospital Ramon y Cajal, Madrid, Spain
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The Simple Intrafamilial Correlation Correction (SICC) Procedure
John B Harley, University of Oklahoma; Oklahoma Medical Research Foundation, US Department of Veterans Affairs Medical Center, OK, United States
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Obesity-related phenotypes are associated with CART and CNR1 gene polymorphisms
Janaína P Jaeger, Universidade Federal do Rio grande do Sul, Brazil
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The Maori Population as a Candidate for Admixture Gene Mapping
Dr Rod A Lea, Institute of Environmental Science and Research, New Zealand
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Genomewide Quantitative Trait Association Study of Cardiac Repolarization identifies a QTL for the QT-interval in the CAPON/NOS1AP Gene
Arne S Pfeufer, Institute of Human Genetics, Technical University Munich, Germany
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Analysis of linkage disequilibrium with schizophrenia in three candidate genes: GRM-3, AKT-1 and NRG-1
Dr Sibylle G Schwab, University of Western Australia, Australia
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High Density Genome Scanning using Affymetrix and Illumina chips: An evaluation of performance based on the HapMap
Dr Michael R Barnes, GlaxoSmithKline, Bioinformatics, United Kingdom
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Linkage disequilibrium maps: from the LD landscape to genome-wide association
Andrew R Collins, University of Southampton, United Kingdom
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Whole genome association study for psoriasis using the Quebec LD Map
Bruno Paquin, Genizon BioSciences, Canada
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Identification of Potentially Important Polymorphisms in the ABC Transporter Genes through their Genomic Signatures of Recent Positive Selection
Zihua Wang, Graduate Programme in Bioengineering, National University of Singapore, Singapore
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Deficiency of delta-1-pyrroline-5-carboxylate synthase (P5CS) in a consanguineous NZ family
Miss Louise S Bicknell, Dept of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
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Unravelling the thin filament: mechanisms of weakness in inherited muscle disease
Ms Ana Domazetovska, Institute for Neuromuscular Research, The Children’s Hospital at Westmead, Sydney, Australia, Australia
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From gene to function: Molecular genetics and biology of hydrolethalus syndrome
Heli Honkala, Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland, Finland
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Partial Gene Duplications in ATP7A Accounts for 5% of the Disease Causing Mutations in Menkes Disease
Nina Horn, The Kennedy Institute - National Eye Clinic, Denmark
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Molecular Genetic Analysis Of Families With Autosomal Recessive Retinal Dystrophy
Chitra Kannabiran, L.V. Prasad Eye Institute, Hyderabad 500 034, India., India
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Novel mutations of transforming growth factor-beta receptor genes found in Japanese patients with atypical Marfanoid arteriopathy
Hiroko Morisaki, National Cardiovascular Center Research Institute, Japan
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CDG 1a caused by a complex genotype, presenting with hydrops in the second trimester of pregnancy
Catherine Nicholls, Womens' and Childrens' Hospital Adelaide, South Australia., Australia
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Mutations in the transforming growth factor receptor type 2 (TGFBR2) gene in patients with Marfan syndrome or Ehlers Danlos syndrome type IV like features
Dr Gerard Pals, Dept. of Clinical Genetics, VU medical center, Amsterdam, The Netherlands
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Life without sulfatases: exploiting a mouse model of multiple sulfatase deficiency
Dr Carmine Settembre, 1) TIGEM – Telethon Institute of Genetics and Medicine, Naples, Italy;2)S.E.M.M. – European School of Molecular Medicine, Naple, Italy
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Molecular study in two families with Spondylocarpotarsal Synostosis syndrome
Carlos E Steiner, Department of Medical Genetics, Faculty of Medical Sciences, Unicamp, Brazil
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Studies with candidate genes for type II autosomal recessive cutis laxa, “wrinkly skin syndrome” or gerodermia osteodysplasica
Carlos E Steiner, Department of Medical Gentics, State University of Campinas (Unicamp)., Brazil
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Association of GST Polymorphisms and its levels in Cataractous Lenses-A Possible Evidence of Oxidative Damage as a Causative Factor
Bhagya Laxmi Sukka Ganesh, Department of Genetics,Osmania University,Hyderabad,Andhra Pradesh, India
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Chromatin-Binding Domains of EBNA1 Protein Facilitate the Transfection of EBV-based Vectors
Sara E Howden, Murdoch Children's Research Institute, Australia
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Accurate Humanised Mouse Models of Friedreich Ataxia
Dr Joseph P Sarsero, Genetic Health Research (Bruce Lefroy Centre), Murdoch Childrens Research Institute, Parkville, Victoria, Australia
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Antisense-mediated correction of spinal muscular atrophy gene through a novel intronic splicing silencer
Dr Ravindra N Singh, Department of Medicine, UMASS Medical School, Worcester, MA 01605, USA, United States
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Co-inheritance of α- and β-thalassemia in Mice Ameliorates Thalassemic Phenotype
Miss Hsiao Phin J Voon, Cell and Gene Therapy Research Group, Murdoch Children’s Research Institute, The University of Melbourne, Royal Children’s Hos, Australia
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Genome-wide microRNA and mRNA expression signatures in mouse ES and differentiated cells
Caifu Chen, Applied Biosystems, United States
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LGL1 is regulated in lung and kidney morphogenesis
Feige Kaplan, Montreal Children's Hospital Research Institute, Mcgill University, Canada
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N1 expression in the developing heart: Ambystoma Mexicanum is an amazing animal model for heart development
Dr Mehves Poda, Istanbul University, DETAE, Department of Genetics, Turkey
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Reconstruction of a 450 MY-old Ancestral Vertebrate Proto-karyotype
Dr Horst Hameister, Dept. Human Genetics, University Ulm, Germany
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Copy number variation hotspots in chimpanzees and humans
Charles Lee, Harvard Medical School, Boston, MA, United States
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Release Of The July 2005 Bovine Genome Assembly Reveals High Levels Of Cross Species Polymorphism In Ruminants
Tracey C van Stijn, AgResearch, New Zealand
Ms Nessa H O'Sullivan, AgResearch, New Zealand
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From genetic discovery to genetic screening program: Developing tools for policy-makers to assess the relevance, effectiveness and feasibility of potential genetic screening programs
Dr Anne Andermann, McGill University and Agence d’Évaluation des Technologies et des Modes d’Intervention en Santé, Canada
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Experiences of Genetic Discrimination among Presymptomatic Individuals who Carry the Mutation for Huntington disease
Yvonne Bombard, University of British Columbia, Canada
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South African Biotechnology – Academia Meeting Commerce
Jaclyn Gerber, Genecare Molecular Genetics, South Africa
Dr J Nico P de Villiers, Genecare Molecular Genetics, South Africa
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A so-called 'chromosome emergency" at the Love Canal. Consequences for a community and social policy implications
Ernest B Hook, University of California, Berkeley, United States
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The Influence of Bioethics and Religious Ruling in Prenatal Diagnosis and Abortion
Frouzandeh Mahjoubi, NIGEB, Iran
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The Genetic Sequence Right: A sui generis alternative to patents
Dr Luigi Palombi, The Centre for the Governance of Knowledge & Development, RegNet, Australian National University, Australia
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Modelling the dimensionality of smoking behaviour in linkage analysis: preliminary results from Australian twin families
Katherine I Morley, Queensland Institute of Medical Research, Australia
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RASSF1A promoter methylation is frequently detected in both pre-malignant and non-malignant microdissected prostatic epithelial tissues
Mr Alan Aitchison, Cambridge University, United Kingdom
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Genome-wide detection of DNA methylation using GeneChip® microarrays
Yan Cao, Affymetrix Inc., United States
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Exposure of Mouse Embryos to Ethanol During Preimplantation Development: Effect on Methylation in the H19 Imprinting Control Region
Mr Philip C Haycock, Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, South Africa
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Global Methylation Analysis by High Performance Liquid Chromatography
David Mossman, University of Newcastle / Hunter Medical Research Institute, Australia
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BORIS, a Novel Potential Cancer Biomarker is Expressed in Senescent Human Fibroblasts
Brissia Lazalde, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico
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Neighbouring nucleotides affect substitution rates in a base-composition dependent manner
Dr Gavin A Huttley, Australian National University, Australia
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Filtering pharmacogenetic signals
Clive Bowman, Genetics Research, GlaxoSmithKline, United Kingdom
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Development of Cellular Genomic Reporter Assays for the Pharmacological Therapy of Friedreich Ataxia
Ms Lingli Li, Genetic Health Research (Bruce Lefroy Centre), Murdoch Childrens Research Institute, Parkville, Victoria, Australia
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Altered expression of Regulator of G-protein signalling 4 and Catechol-O-Methyltransferase in the superior temporal gyrus in schizophrenia
Ms Nikola A Bowden, NISAD/University of Newcastle, Australia
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PHF6 Protein Expression is Regulated by Alternative Splicing of PHF6 mRNA
Dr Mark A Corbett, Neurogenetics Laboratory, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia
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Use of the Susceptibility Markers for Genetic Risk Profiling in Migraine
Lyn R Griffiths, Genomics Research Centre, Australia
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Neuropathology and Global Gene Expression in Ts1Cje, a Mouse Model of Down Syndrome
Chelsee A Hewitt, The Walter and Eliza Hall Institute, Australia
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A potential migraine susceptibility locus refined to Xq28
Ms Marina Kerr, Genomics Research Centre, School of Medical Science, Griffith University, Gold Coast, Australia
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Genetic modifyers of CADASIL
Minna Pöyhönen, Biomedicum, University of Helsinki, Finland
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Can psychological variables be possible biomarkers of the onset in late-onset neurological disorders?
Jorge Sequeiros, IBMC, Univ. Porto, Portugal
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Molecular pathology of mutations in the ARX homeobox gene
Dr Cheryl Shoubridge, Neurogenetics Laboratory, Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, Australia, Australia
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Autoimmunity in Aire-knockout mice - a murine model of the monogenic human disorder Autoimmune-PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
Sarah A Kinkel, Walter and Eliza Hall Insitute of Medical Research, Australia
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A change in ganglioside synthesis associated with pathogenic mechanism in a familial form of multiple sclerosis
Dr Emilia Vitale, UMDNJ New Jersey Medical School Newark New Jersey USA/CNR Institute of Cybernetics, Naples, Italy, United States
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Candidate genes for human brain evolution: Do they relate to head size and cognitive ability?
Michelle Luciano, Queensland Institute of Medical Research, Australia
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Case Study: A Prenatal Test for the Mitochondrial NARP mutation, T8993G
Ms Sarah Pantaleo, Victorian Clinical Genetics Services, MCRI, Australia
Dr Desirée du Sart, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Australia
Dr David Thorburn, Murdoch Children’s Research Institute, Royal Children’s Hospital, Australia
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SNP-GeneChip based copy number assessment for Cytogenetic Diagnostics
Mr Gareth Price, Mater Medical Research Institute, Australia
Patrick Willems
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Exploiting new technologies to find orthologs of human genes in the kangaroo and the platypus
Dr Amber E Alsop, Australian National University, Australia
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