11th International Congress of Human Genetics

Session Details

Poster Session 1b

Tuesday, 8 August 2006 16:30 -17:30

Exhibition Hall 2

Familial overgrowth and Wilms tumor associated with paternally inherited duplication on chromosome 11p15.5
  • Dr Elizabeth M Algar, Iniversity of Melbourne and the Murdoch Children's Research Insititute, Australia
    • Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III
  • Dr Elena Bonora, Unit of Medical Genetics-Dept of Internal medicine University of Bologna, Italy
  • Mr Giuseppe Gasparre, Unit of Medical Genetics-Dept of Internal Medicine University of Bologna, Italy
  • Prof Giovanni Romeo, Unit of Medical Genetics-Dept of Internal Medicine University of Bologna, Italy
    • Reduced Drg-1 expression in progression of human prostate carcinoma
  • Prof DC Chu, Graduate Institute of Medical Biotechnology, Chang Gung University, Taiwan
    • Molecular testing in MAP
  • Ms Shannon Cowie, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Australia
    • Analysis of a large familial prostate cancer pedigree using comparative genomic hybridisation
  • Liesel M FitzGerald, Menzies Research Institute, Australia
    • Characterizing Rearrangements in Glioma using Genomic Tilepath Microarrays
  • Simon G Gregory, Duke University Center for Human Genetics, United States
    • Changes in the Three-Dimensional (3D) Organization of Telomeres During Cellular Immortalization and Senescence
  • Ms Amanda Guffei, Manitoba Institue of Cell Biology, Winnipeg, Manitoba, Canada
    • SRD5A2 A49T and V89L gene polymorphisms, prostate cancer, serum androgen levels and androgenetic alopecia
  • Vanessa M Hayes, Garvan Institute of Medical Research, Australia
    • Evolutionarily plastic regions and cancer breakpoints coincide
  • Prof Stefan Imreh, Karolinska Inst, MTC,, Sweden
    • Genetic Variation in Putative Regulatory Loci Controlling Gene Expression in Breast Cancer
  • Dr Vessela N Kristensen, Institute for Cancer Research, DNR, Oslo, Norway
    • Molecular mechanisms of multidrug resistance in cancer chemotherapy: Clinical significance of MRP1 gene In Iranian AML patients
  • Frouzandeh Mahjoubi, NIGEB, Iran
    • Insertion/Deletion (I/D) polymorphism in Angiotensin Converting Enzyme (ACE) in mexican women with breast cancer
  • Dr Maria Cristina Moran Moguel, Centro de Investigación Biomédica de Occidente. Instituto Mexicano del Seguro Social, Mexico
    • Loss of heterozygosity in hereditary nonpolyposis colorectal carcinoma: a novel approach
  • Miina Ollikainen, Department of Medical Genetics, University of Helsinki, Finland
    • Effects of the anticancer drug cisplatin on human BRCA1 gene: cellular DNA repair and transcriptional transactivation activity
  • A/Prof Dr Adisorn Ratanaphan, Laboratory of Pharmaceutical Biotechnology, Department of Pharmaceutical Chemistry, Faculty of Pharmaceutical Sciences, Prince, Thailand
    • Familial Thyroid Tumors: mutation analysis of candidate genes mapping to chromosome 19p13.2 genes and their relevance for the oncocytic phenotype
  • Prof Giovanni Romeo, Unit of Medical Genetics-Dept of Internal Medicine University of Bologna, Italy
    • The Australian National Endometrial Cancer Study (ANECS) – Progress to Date
  • Amanda B Spurdle, Queensland Institute of Medical Research, Australia
    • The Australian Familial Haematological Cancer Study
  • Dr Graeme Suthers, Familial Cancer Unit, South Australia, Australia
    • TP53 R72P and MDM2 SNP309, Disease Expression and Age of Diagnosis of Colorectal Cancer in HNPCC patients
  • Ms Bente A Talseth, University of Newcastle and Hunter Medical Research Institute, Newcastle, NSW, Australia
    • Review of BRCA mutation detection rate in Queensland over the lasat five years
  • Julie A White, Queensland Clinical Genetic Service, Australia
    • A novel and frequent del T alteration in a microsatellite sequence of the 3’-UTRCDK2-AP1 gene regulation CDK2-AP1 decreased expression in MSI CRC
  • Dr ZQ Yuan, Albert Einstein College of Medicine, United States
    • DNA Sequence Features of Additional Partner Chromosome-BCR Junction Fragments Associated with Complex BCR-ABL1 Rearrangements of CML
  • Dr Suzanne M Benjes, Cancer Genetics Research Group, Department of Pathology, Christchurch School of Medicine and Health Sciences, Christchurch, New Zealand
    • Cytogenetic Aberrations and Treatment Outcome in Children with Hypodiploid Acute Lymphoblastic Leukemia: an International Study
  • Nyla A Heerema, The Ohio State University, United States
    • Characterisation of dicentric 17;20 chromosomes in MDS and AML: Evidence for the retention of critical genes accompanying chromosome deletion
  • Ruth N MacKinnon, St Vincent's Hospital, Melbourne, Australia
  • A/Prof Lynda J Campbell, Victorian Cancer Cytogenetics Service, Australia
    • A Phenotypically Normal Patient with Constitutional Trisomy 8 Mosaicism and AML
  • Jeffrey Suttle, Division of Molecular Pathology, Institute of Medical and Veterinary Science, Adelaide, Australia
    • Utility of whole genome amplified DNA in studies using high-density oligonucleotide array-based genotyping
  • Habibul Ahsan, Columbia University, Mailman School of Public Health, United States
    • Combined aneuploidy and translocation testing in polar bodies
  • Tina Buchholz, Zentrum für Polkörperdiagnostik, Germany
    • Investigating DiGeorge-like deletions on chromosome 10p using probes for GATA3 and NEBL
  • Art Daniel, Cytogenetics, WSGP, Children's Hospital at Westmead, Sydney, Australia., Australia
    • Assessment of mutagenicity in hairdressers by cytogenetic tests
  • Maira P Galiotte, Universidade de Sao Paulo, Brazil
  • Priscila Kohler, Universidade de Sao Paulo, Brazil
  • Gilka F Gattás, Universidade de Sao Paulo, Brazil
    • A two-step mechanism for palindrome-mediated rearrangements in human cells
  • Dr Hidehito Inagaki, Mol Genet, Fujita Health Univ ICMS, Japan
    • Prenatal detection of nullisomy for distal Xp22.3 in a male fetus with short limbs and a maternally derived der(X)t(X;Y)(p22.33;q11.2)
  • Ms Rosemarie Kelly, Molecular and Cytogenetics Unit, SEALS, Prince of Wales Hospital, Sydney, NSW, Australia
    • Dysregulation of DLX5 by Position Effect in a Family with a Novel Phenotype of Craniofacial Defects and Hearing Loss
  • Kerry Kocher, Harvard Medical School, United States
    • Follicular fluid - a novel source of cells to detect gonadal chromosome mosaicism
  • Dr Prochi F Madon, Dept. of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai., India
    • Genetic Etiology of Autism: A Review
  • Dr K R Manjunatha, National Institute of Mental Health and Neurosciences, India
    • Meiotic chromosomal abnormalities in infertile men
  • Renée H Martin, 1) Department of Medical Genetics, University of Calgary, Calgary, Canada; 2) Department of Genetics, Alberta Children’s Hospit, Canada
    • Mosaic chromosome 12 abnormality in a child with significant growth and developmental delay
  • Catherine McCarthy, QHPS Cytogenetics Unit, RBWH, Brisbane, Australia
    • Molecular analysis of common mutations associated with Spinal Muscular Atrophy (SMA) in Romanian families
  • Toma Mihai
    • Comparison of FISH and conventional cytogenetic analysis in 87 amniotic fluid samples for prenatal diagnosis
  • Sun Kyung Oh, IRMP, MRC, Dept. OB&GY, College of medicine, Seoul National University, Korea
  • Young Min Choi, IRMP, MRC, Dept. OB&GY, College of medicine, Seoul National University, Korea
  • Shin Yong Moon, IRMP, MRC, Dept. OB&GY, College of medicine, Seoul National University, Korea
    • Cytogenetics Epidemiology of Down Syndrome in Iran A forty years study
  • Dr M Shariaty, Cytogenetics Lab. , Dep. of Med. Gent. Sch. Med. Bushehr Uni., Iran
    • Genetics Made Easy
  • Maria T Solé, Centro Genética Médica, Barcelona, Spain
    • Determination of bounds for the deletion at Xp21 in families with X-linked adreanal hypoplasia congenita
  • Keiko Wakui, Department of Medical Genetics, Shinshu University School of Medicine, Japan
    • 22q11.2 is a common breakpoint to multiple congenital reciprocal translocations about 20% of which have cryptic deletions
  • Dr Ying S Zou, Cytogenetics Laboratory, Mayo clinic, Rochester, MN, United States
    • Del 1q21.1 deletion/duplication syndrome. Further clinical delineation of this microdeletion syndrome most commonly presenting with congenital heart disease
  • John S Bamforth, University of Alberta, Edmonton, Alberta, Canada
    • Translocation (3;13)(p26-q11): A case report
  • Ilian J García-González, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
  • Dr Melva Gutiérrez-Angulo, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
  • Dr Nory O Dávalos-Rodríguez, Instituto de Genética Humana, Departamento de Biología Molecular y Genómica, CUCS, Universidad de Guadalajara, Sierra Mojada 95, Mexico
    • Prader-Willi Like Phenotype (PWLP), Basedow´s disease and acanthosis nigricans due to a de novo paternal microdeletion of 6q, including SIM1
  • Ingo Hansmann, Institut für Humangenetik und Medizinische Biologie; MLU Halle-Wittenberg, Halle/ Saale, Germany
    • Phenotyping, Sequencing and Karyotyping of Blepharocheilodontic Patients
  • Peter A Jezewski, The Forsyth Institute, Harvard School of Dental Medicine, United States
    • Clinical features and molecular basis for hereditary disorders related to the teeth formation; diagnosis of three families with different diseases
  • MIyuki Kida, Department of Pediatrics,Hokkaido University Graduate School of Medicine, Japan
  • Dr Yukio Sakiyama, Human Gene therapy, Hokkaido University Graduate School of Medicine, Japan
  • Dr Tetsuo Shirakawa, Center for Advanced Oral Medicine, Hokkaido University Hospital, Japan
  • Dr Yasutaka Yawaka, Department of Dentistry for Children and Disabled Person, Hokkaido University Graduate School of Dental Medicine, Japan
  • Dr Tadashi Ariga, Department of Pediatrics,Hokkaido University Graduate School of Medicine, Japan
    • Trisomy 8 demonstrated in a case of CLL
  • Lai-Ching Lau, Singapore General Hospital, Singapore
    • Associated anomalies in patients ascertained for vertebral malformations
  • Elizabeth McPherson, Marshfield Clinic, United States
    • M1S1 gene analysis for gelatinous drop-like corneal dystrophy in Asian district
  • Akira Murakami, Department of Ophthalmology, Juntendo University School of Medicine, Japan
    • Identification of a new Bruton’s tyrosine kinase (BTK) mutation associated with an unusual phenotype in a patient with X-linked agammaglobulinemia (XLA)
  • Prof Giuseppe Novelli, Tor Vergata University; Ospedale S. Pietro Fatebenefratelli; University of Arkansas for Medical Sciences,, Italy
    • Changes in Phenotype of Bloom´s Syndrome with New Manifestations in Adult Individuals
  • Eberhard Passarge, Universitätsklinikum Essen, Germany, Germany
    • Possible 15q inactivation with t(X;15) (q13;p11.2) patient
  • Satoru Sakazume, Saitama children's medical center, Japan
    • Involvement of RANTES promoter gene polymorphisms in the susceptibility of Korean children with asthma
  • Dr Myung Hyun Sohn, Yonsei University College of Medicine, Korea
    • Two Sisters with IMAGe Syndrome: Cytomegalic Adrenal Histopathology and Support for Autosomal Recessive Inheritance
  • Tiong Yang Tan, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
    • Postmortem Fibroblast Culture after Perinatal Death
  • Katelijne Bouman, University Medical Center Groningen, The Netherlands
    • Increased Plasma mRNAs of Placenta-specific 1 (PLAC1) and Glial Cells-missing 1 (GCM1) in Mothers with Pre-eclampsia
  • Naoya Fujito, Hiroshima University, Japan
    • Diversity patterns of gonadotropin hormone beta gene family: reflection of gene history, meiotic and evolutionary forces
  • Prof Maris Laan, Institute of Molecular and Cell Biology, University of Tartu, Estonia
    • Amplification of MYCN, TERT, TERC and expression of neurotrophin receptors for tyrosine kinases and tyrosine hydroxylase in neuroblastoma
  • Prof Jerzy Nowak, Institute of Human Genetics Pol.Ac.Sci., Poland
    • Sibling risk for the Depression of Alzheimer Disease
  • Dr Margaret A Pericak-Vance, Duke University Medical Center, United States
    • Transcription patterns of hCG beta-subunit during normal and failed pregnancy
  • Dr Kristiina Rull, Institute of Molecular and Cell Biology,University of Tartu, Riia 23, Tartu 51010, Estonia
    • A novel functional mechanism of Rac1 GTPase mediated regulation of Wnt signalling pathway
  • Bharati Bapat, Samuel Lunenfled Research Institute, Mount Sinai Hospital, University of Toronto, Canada
    • DNA damage and repair in gastric cancer: a correlation with the OGG1 and RAD51 genes polymorphisms
  • Janusz Blasiak, Department of Molecular Genetics, University of Lodz, Poland
    • Association of the androgen receptor gene (CAG)n repeat region with severity of left ventricular hypertrophy in males with hypertrophic cardiomyopathy
  • Joanne M Lind, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Australia
    • Gene Regulation Studies of the Friedreich Ataxia Locus Using Genomic Reporter Assays
  • Ms Novita Puspasari, Genetic Health Research (Bruce Lefroy Centre), Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    • An absulate production of the huamn EGF gene regualtes by NFk-B binding site at position +62
  • Dr Majid Shahbazi, Genetics & immunology Unit, Medical Faculty, Golestan University of Medical Sciences, Gorgan, Iran, Iran
    • Genetic Practice in Midwifery - The Australian Experience
  • Ms Michelle Bishop, Murdoch Childrens Research Institute and Department of Paediatrics, The University of Melbourne, Victoria, Australia, Australia
    • The Genetics Education Project: an approach to integrating genetics into primary care
  • Dr June C Carroll, Mount Sinai Hospital, University of Toronto, Canada
    • Genetic Testing: Quality Standards for Patient Information
  • Domenico Coviello, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy, Italy
    • Certification and Accreditation – Adaptation or Mutation
  • Mr Peter Field, Griffith University, Brisbane, Australia
    • Training of health professionals and community agents for the identification of patients at risk for hereditary breast cancer in southern Brazil
  • Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
    • Women's experiences of prenatal genetic counselling
  • Ms Jan Hodgson, Murdoch Children's Research Institute, Dept Paediatrics and Centre for Health and Society, Melbourne University, Victoria, Australia
    • Early signs of benefit in children with late-onset Pompe disease following the first 6 months of treatment with enzyme replacement therapy (recombinant human acid α-glucosidase) in an open-label study
  • Dr Deborah Marsden, Director, Global Medical Programs-Genzyme Corp., United States
    • An exploration of the attitudes and educational needs of people considering cystic fibrosis carrier screening in Victoria, Australia
  • Belinda J McClaren, Murdoch Childrens Research Institute, Australia
    • Wiskott-Aldrich syndrome: Secrets, family dynamics and genetic counselling challenges
  • Mrs Helen Mountain, Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA., Australia
    • Evaluation of a decision aid for prenatal testing of fetal abnormalities
  • Ms Cate Nagle, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
    • Genetic Counsellors in the Private Sector: Development of a Service
  • Ms Madelyn Peterson, so+gi (Specialist Obstetric and Gynaecological Imaging), Australia
  • Ms Jillian Parkes, Queensland Clinical Genetics Service, Australia
  • Ms Jennifer Berkman, so+gi (Specialist Obstetric and Gynaecological Imaging), Australia
    • An evaluation of a shared experience group for women following prenatal diagnosis and termination for a fetal abnormality
  • Alison J Thornton, Genetic Health Service Victoria, Australia
  • Lisa Gordon, Genetic Health Service Victoria, Australia
  • Sharon Lewis, Murdoch Childrens Research Institute, Australia
  • Samantha Wake, Genetic Health Service Victoria, Australia
    • A whole genome by association of chronic inflammatory arthritis
  • Yaron Turpaz, Affymetrix, Inc., United States
    • USF1 gene variants predispose to dyslipidemias and metabolic syndrome in a 32-year longitudinal follow-up study
  • Kirsi Auro, National Public Health Institute, Dept. of Molecular Medicine, Helsinki, Finland, Finland
    • Family Health Matters: From accepted wisdom to public health impact
  • Dr Kristine Barlow Stewart, Australia
    • A genomic analysis of ethnic diversity in PR China
  • Prof Alan H Bittles, Edith Cowan University and Capital University of Medical Sciences, Australia
    • Molecular basis of Thalassemia Intermedia in North Indians
  • Dr Reena Das, Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
    • Low linkage disequilibrium among 1840 SNPs in 203 drug metabolizing enzymes underlines the necessity of directly genotyping putative functional variants
  • Francisco M De La Vega, Applied Biosystems, Foster City, CA, USA, United States
    • A New Horizan on Relationship of Genetical Findings and HIV Infection
  • Fatemeh Fekrmandi, Students' research committee, School of Medicine, Zanjan University of Medical Sciences, Iran
    • GSTM1 and GSTT1 Polymorphisms modified associations between meat and heterocyclic amines intake and Risk of Colon Cancer: A Population-Based Case-Control Study in North Carolina
  • Dr Kui Huang, Department of Epidemiology, Pfizer, Inc, New York, United States
    • Should concurrent InSight® analysis be performed on late gestational age amniotic fluid specimens submitted for cytogenetic analysis?
  • Dr Judith F Knops, Genzyme Genetics, Santa Fe, NM, United States
    • Genome-wide association studies: gene-gene interactions
  • Dr Salma Kotti, Inserm, Paris XI University, France
    • Methyl Primer Express® Software and influence of amplicon characteristics to successrate in sequencing of bisulfite treated DNA
  • Andrew M Masel, Applied Biosystems, Brisbane, Australia
    • A Systematic Approach to Genetic Epidemiology in the 21st Century
  • Ms Lisa McCallum, Institute of Environmental Science and Research, New Zealand
    • Association of μ-opioid receptor gene polymorphism A118G with alcohol dependence in a Japanese population
  • Daisuke Nishizawa, Unit of Human Biology and Genetics, Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan
    • Heterozygosity frequency of one VNTR polymorphism in intron 40 of VWF gene in patients with VWD, and in three native mexican groups
  • Dr Juan J Palacios, Instituto Mexicano del Seguro Social, Mexico
  • Dr Rosenda I Peñaloza, Instituto Mexicano del Seguro Social, Mexico
    • Mitochondrial DNA polymorphisms in the Amerindian: Tarahumara, Huichol, and Purépecha, and in one Mestizo Mexican population
  • Lucila Sandoval-Ramirez, IMSS, Mexico
    • A sample of 152 sib-pair families from Indonesia for analysis of linkage and association in schizophrenia
  • Sibylle G Schwab, Western Australian Institute for Medical Research, Australia
    • Clinical Phenotypes Associated with Mutations in TGFBR1 and TGFBR2 genes
  • Kate Sullivan, Department of Molecular Genetics, The Children’s Hospital at Westmead, Westmead, Australia, Australia
    • The Effect of a Cancer Family History Public Health Campaign on Information-Seeking and Genetic Counseling Referrals
  • Mr Kevin M Sweet, The Ohio State University Comprehensive Cancer Center, United States
  • Kimberly M Kelly, The Ohio State University, United States
    • Vitamin D Receptor Gene Haplotypes and Prostate Cancer in Hispanic and Non-Hispanic White Men
  • Kathleen C Torkko, University of Colorado at Denver and Health Sciences Center, United States
    • Antisense oligonucleotide induced exon skipping restores dystrophin expression in a canine model of muscular dystrophy
  • Alan N Wilton, University of New South Wales, Australia
    • Screening for germline mutations in the MEN1 gene by Thermal Gradient Capillary Electrophoresis (TGCE)
  • Dr Peter J Ainsworth, Molecular Diagnostic Laboratory, London Health Sciences Centre, and University of Western Ontario, Canada
    • Newborn bloodspot screening for cystic fibrosis in Scotland
  • David A Aitken, Institute of Medical Genetics, United Kingdom
    • Molecular diagnosis of Incontinentia pigmenti
  • Rachael C Bennett, Department of Genetic Medicine; Women's & Children's Hospital, Australia
    • Overview of MECP2 mutations identified in individuals referred for Rett syndrome, variant Rett syndrome and X-linked MR
  • Nancy L Carson, Children's Hospital of Eastern Ontario, Canada
    • From Screening to Molecular Diagnosis of Common IEM in Indian Population – Preventive Community Genetic Approach
  • Usha P Dave, Centre for Research in Mental Retardation (CREMERE), India
    • Clinical Genetics Inpatient Consultation Service at a University Hospital in Brazil: a retrospective study
  • Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
    • Relate of 4 years experience from a inborn Erros of Metabolism call free service in Brazil (0800-5102858 - SIEM)
  • Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
    • Vitamin D receptor gene alleles predict the bone density and bone turnover
  • Arash Hossein-nezhad, Endocrinology and Metabolism Research Center of Tehran University of Medical Sciences, Iran
    • State-of-the-art of the human genetics in Costa Rica
  • Dr Gerardo A Jimenez, Universidad de Costa Rica, Centro de Investigación en Hematologías y Trastornos Afines, Costa Rica
    • Establishment of Embryonic Stem cell Lines from Parthenogenetic and Cloned Mice Embryos Produced by Nuclear Transfer
  • Jin Y Ju, Animial Resources Research Center, Konkuk University, Seoul, Korea, Korea
    • Screening and replication using the same data set: A testing strategy for case/control studies
  • Dr Christoph Lange, Harvard School Public Health
    • Analysis of common alpha-thalassemia point mutations and deletions by reverse-hybridization
  • Christian Oberkanins, ViennaLab Labordiagnostika GmbH, Vienna, Austria
    • MLPA validation in a female OTC deficiency patient - Implications for the proband and her family
  • Miss Katrina M Slater, The Children's Hospital at Westmead, Australia
    • Extended Mutation Screening in Rett Syndrome and Related Clinical Disorders
  • Mrs Rose White, Children's Hospital at Westmead, Australia
    • Cryptic Duplications: Detected by MLPA, not Detectable by FISH
  • Dr Sui Yu, Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, Australia
    • 11 Beta HSD type 1 is responsible for low plasma HDL-cholesterol and abdominal obesity in metabolic syndrome patients
  • Dr Fatmahan Atalar, Istanbul University, Institute for Experimental Medical Research, Istanbul,Turkey, Turkey
  • Dr Burcak Vural, Istanbul University, Institute for Experimental Medical Research, Istanbul,Turkey, Turkey
    • Design of Multiplexed Oligionucleotide Ligation Assays for High Throughput Insertion-Deletion Polymorphism Genotyping
  • Francisco M De La Vega, Applied Biosystems, Foster City, CA, USA, United States
    • EXON RESEQUENCING: The search for sequence variation in human genome
  • Tamsin L Eades, The Wellcome Trust Sanger Institute, United Kingdom
    • A second case report of Pfeiffer syndrome with a rare FGFR2 tyrosine kinase domain mutation and death secondary to upper respiratory obstruction
  • Ms Lucinda Freeman, Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia, Australia
    • Recent Advancements of H-Invitational Database, An Integrated Database of the Human Transcriptome
  • Tadashi Imanishi, BIRC, AIST, Japan
    • Annotation of the protein-coding genes in the ENCODE regions
  • Alexandre Reymond, Center for Integrtaive Genomics, University of Lausanne, Switzerland
    • The role of Fatty acid binding protein-4 (FABP4) gene expression in human epicardial adipose tissue and aorta of metabolic syndrome patients with previous myocardial infarction
  • Dr Burcak Vural, Istanbul University, Institute for Experimental Medical Research, Department of Genetics, Istanbul, Turkey
  • Dr Fatmahan Atalar, Istanbul University, Institute for Experimental Medical Research, Department of Genetics, Istanbul, Turkey
    • Data Integration in Gene-Oriented Files of Hermansky-Pudlak Syndrome Database
  • Dr Wei Li, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, China
    • CSF GAG behavior during intra-thecal enzyme replacement therapy in a patient with MPS I and spinal cord compression
  • MD, PhD Roberto Giugliani, Medical Genetics Service, Hosp Clin P Alegre, Porto Alegre, RS, Brazil, Brazil
    • Transcriptional function of SRY from normal males and XY females
  • Vincent R Harley, Prince Henry's Institute of Medical Research, Australia
    • An Ethnic-Specific Polymorphism in Glutamate Cysteine Ligase Abolishes In Vitro Production of Glutathione Intermediates
  • Dr Truc M Le, Division of Pediatric Critical Care Medicine, Vanderbilt Children's Hospital, Nashville, TN, United States
    • Genetic findings in Australian Patients with Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI)
  • Ms Janaki H Shah, Dept of Endocrinology, Mater Childrens Hospital & School of Biomolecular and Biomedical Sciences, Griffith University, Australia
    • Human monocytes expressing a CEA-specific chimeric CD64 receptor specifically target CEA-expressing tumour cells in vitro and in vivo
  • Dr Alireza Biglari, Zanjan University of Medical Sciences, Zanjan, Iran, Iran
    • LCCS3: A NOVEL FORM OF AUTOSOMAL RECESSIVE LETHAL CONGENITAL CONTRACTURAL SYNDROME MAPPED TO CHROMOSOME 19q13 USING SNP MICROARRAYS
  • Dr Ohad S Birk, Morris Kahn Laboratory of Genetics, Ben-Gurion University, Israel
    • Detection and mapping of chromosome aberrations in Japanese Duchenne muscular dystrophy patients using array CGH
  • Yoshinobu Oyazato, Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
    • Finding Ovine Microsatellite Markers from Bovine Simple Sequence Repeats
  • Sin H Phua, AgResearch, New Zealand
    • The 5’ promoter region of the Human Solute Carrier family 11 member 1 protein (SLC11A1): linking Infections, Autoimmunity and Cancer?
  • Jocelyn C Reader, University of Maryland School of Medicine, United States
    • Vici Syndrome: Underdiagnosed, Rare, or Both
  • Richard C Rogers, Greenwood Genetic Center, United States
    • Mapping the gene for Trapped Neutrophil Syndrome, an autoimmune disease in Border collies
  • Mr Jeremy R Shearman, University of New South Wales, Australia
  • Alan N Wilton, University of New South Wales, Australia
    • In situ detection of small target sequences and SNP genotyping by rolling circle amplification of padlock probe
  • Sung H Shim, Department of Medical Genetics, College of Medicine, Hanyang University, Seoul, Korea, Korea
  • Youl H Cho, Department of Medical Genetics, College of Medicine, Hanyang University, Seoul, Korea, Korea
    • Linkage analysis of large families, in the new era of dense marker sets
  • Dr Russell J Thomson, Menzies Research Institute, University of Tasmania, Australia
    • A New Locus For Autosomal Recessive Non-Syndromic Mental Retardation Maps To 1p21.1-13.3
  • Oya Z Uyguner, Child Health Institute and Istanbul Medical Faculties, Department of Medical Genetics, Istanbul Univesity, Istanbul, Turkey
    • Fine Mapping of a putative susceptibility locus on Chromosome 10 for Multiple Sclerosis in an Anglo-Celtic population
  • Melanie Bahlo, Walter and Eliza Hall Institute of Medical Research, Australia
    • Detecting Copy Number Variants in SNP Association Studies
  • Dr Rita M Cantor, UCLA School of Medicine, United States
    • Genetics of Mitochondrial Content as a Determinant of Diabetes Risk
  • Joanne E Curran, Southwest Foundation for Biomedical Research, United States
    • Using High Resolution Genomic Microarrays to Study Chromosomal Aberrations and DNA Methylation Patterns in Autism
  • Simon G Gregory, Duke University Center for Human Genetics, United States
    • Genetic Etiologies for Congenital Diaphragmatic Hernia
  • Ashley M Holder, Baylor College of Medicine; Howard Hughes Medical Institute, United States
    • Complex association of the C3 gene haplotypes with adult and choldhood asthma
  • Hiroki Inoue, Deparment of Public Health, Chiba University Graduate School of Medicine, Japan
    • Parkinson’s disease in relation to toxin exposure and mitochondrial complex I gene variants
  • Dr George D Mellick, Princess Alexandra Hospital, Australia
    • Evaluation of linkage disequilibrium in the TNF alpha gene region on chromosome 6p in families with schizophrenia
  • Bharti Morar, Laboratory for Neuropsychiatric Genetics, Western Australian Institute for Medical Research and UWA Centre for Medical Research, Australia
    • Genomic Convergence Applied to Behçet’s Disease
  • Sofia A Oliveira, Instituto Gulbenkian de Ciência, Portugal
    • Patients with different types of vascular diseases carrying PON155M allele have lower HDLC level in comparison to control subjects
  • Prof Andrzej L Pawlak, Institute of Human Genetics PAN, Poland
    • Genetic aspects of HIV-1 risk in an African setting
  • Desiree C Petersen, Discipline of Medical Virology, Department of Pathology, University of Stellenbosch, South Africa
    • Haplotypes of the glucocorticoid receptor gene are associated with gene expression levels and modify the association between body size at birth and cortisol concentrations in adult life
  • Anna Rautanen, University of Helsinki, Department of Medical Genetics; Finnish Genome Center, Helsinki, Finland
    • What is familial about familial bipolar affective disorder? Resemblance among relatives across a broad spectrum of phenotypic characteristics
  • Dr Thomas G Schulze, Div. of Genetic Epidemiology, Central Inst. of Mental Health, Mannheim (Germany) & NIMH/NIH, Bethesda, MD (USA), Germany
    • The application of large-scale genetic association studies to impact drug discovery
  • Stephanie L Chissoe, GlaxoSmithKline, United States
    • A big deletion associated with a genomic integration in the PDHX gene causing a PDH deficiency in a boy with encephalopathy and lactic acidosis
  • B Aral, Biochimie B, AP-HP Hôpital Necker-enfants malades, Paris, France, France
    • Leu39Ter mutation identified in the phospholamban gene in a patient with hypertrophic cardiomyopathy
  • Ms Christine Chiu, Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Australia
    • AlphaB-crystallin mutations cause hypertrophic and dilated cardiomyopathy
  • Michael Christiansen, Statens Serum Institut, Copenhagen, Denmark
    • Decrease of mitochondrial glycerol-3-phosphate dehydrogenase 2 (GPD2) activity in an autistic patient. A new gene involved in pervasive developmental disorders?
  • Hussein Daoud, National Institute of Health and Medical Research U619, Medicine Faculty, Tours, France., France
  • Dr Nicolas Gruchy, Department of Genetics and Reproduction, University Hospital Complex, Caen, France., France
  • Dr Agnes Rötig, National Institute of Health and Medical Research U393, Paris-Necker, France., France
  • Dr Nathalie Leporrier, Department of Genetics and Reproduction, University Hospital Complex, Caen, France., France
  • MD-PhD Sylvain Briault, National Institute of Health and Medical Research U619, Medicine Faculty, Tours, France. Laboratory of Chromosomal Genetics, Re, France
    • Epidermal expression of the Hutchinson-Gilford progeria syndrome mutation in transgenic mice
  • Hanna Hofgren, Department of Biosciences and Nutrition, Karolinska Institutet, Sweden
    • CRTAP is required for collagen 3-prolyl hydroxylation and loss of its function causes recessive Osteogenesis Imperfecta
  • Ashley M Holder, Baylor College of Medicine, United States
    • Identification of Differentially Expressed Genes in PA-1 Cells Treated with CR229, a Selective Cyclin-dependent Kinase Inhibitor Generated using Ligand-Based Drug Screening
  • Dr Min Kyoung Kim, Dept. Medical Genetics, College of Medicine, Hanyang University, Korea
    • Collagen VI mutations in Ullrich congenital muscular dystrophy
  • Ms Rishika A Pace, Murdoch Childrens Research Institute and The University of Melbourne, Australia
    • Glycine Transporter Mutations in Hyperekplexia
  • Prof Mark I Rees, School of Medicine, University of Wales Swansea, United Kingdom
    • Identifying recurrent submicroscopic copy number changes in mentally retarded patients by array CGH and MLPA; the example of 2q23.1->q23.2
  • Erik Sistermans, Radboud University Nijmegen Medical Centre, dept of Human Genetics, The Netherlands
    • Molecular genetics and biology of Meckel syndrome
  • Jonna Tallila, Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland, Finland
    • Gly691Ser mutation of Ret tyrosine kinase is associated with primary vesicoureteral reflux in the French-Canadian population in Quebec
  • Yaoming Yang, Canada
    • Antisense Oligonucleotide Treatment of Duchenne Muscular Dystrophy; GlaxoSmithKline efforts to support Phase I/II trials
  • Dr Patrick A Akkari, GlaxoSmithKline, United States
    • Induction of revertant fibres in the mdx mouse using antisense oligonucleotides
  • Ms Abbie M Fall, Experimental Molecular Medicine Group, Centre for Neuromuscular and Neurological Disorders, UWA, Nedlands, WA, 6009., Australia
    • siRNA-Mediated Knockdown of α-Globin: Applications in β-thalassaemia
  • Miss Hsiao Phin J Voon, Cell and Gene Therapy Research Group, Murdoch Childrens Research Institute, The University of Melbourne, Royal Children’s Hosp, Australia
    • Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement
  • Ari Zimran, Shaare Zedek Medical Center, Israel
    • Expression of antisense transcripts in male germ cells
  • Wai-Yee Chan, National Institute of Child Health and Human Development and Georgetown University, United States
    • Dysmorphic features associated with intestinal malrotation
  • Dr Samir K Munir, Ninewells Hospital, Dundee,UK, United Kingdom
    • Simple Sequence Repeats in the Bovine, Human and Canine Genomes
  • Gemma M Payne, AgResearch, New Zealand
    • Informed consent and subject enrollment issues in the study of severe or lethal birth defects with complex inheritance patterns
  • Robert G Best, University of South Carolina, School of Medicine, Department of Ob/Gyn, Columbia, SC., United States
    • The value of free and informed consent in genomic research and development of personalized medicine
  • Vaidutis Kucinskas, Vilnius University, Lithuania
    • Evidence for both pleiotropic and developmental field factors on finger ridge count
  • Sarah E Medland, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth, United States
    • Life events, first depression onset, and the serotonin transporter gene
  • Prof Peter R Schofield, Garvan Institute of Medical Research, University of New South Wales & Prince of Wales Medical Research Institute, Australia
    • CpG island methylation in human lymphocytes is highly correlated with DNA sequence, repeats, and predicted DNA structure
  • Christoph Bock, Max-Planck-Institut für Informatik, Saarbrücken, Germany
    • MPS-BRAZIL NETWORK: A country wide initiative to improve diagnosis and management of Mucopolysaccharidoses in Brazil
  • Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
    • Ethical genetic counselling: The institutionalisation of non-directiveness
  • Viviane Morrigan, Contemporary Studies Program, Faculty of Arts, University of Queensland, Australia
    • Aberrant splicing of spinal muscular atrophy gene is modulated by a RNA structure located at the exon-intron junction
  • Dr Natalia N Singh, University of Massachusetts Medical School, Worcester, MA, USA, United States
    • A screen for genes involved in meiosis-specific chromosome behavior based on expression profiling
  • Dr Hiroshi Kogo, Mol Genet, ICMS, Fujita Health Univ, Japan
    • A Pharmacogenetic Association Study of Pharmacokinetic Variables and Side Effects in Eight Phase I Clinical Trials of Lapatinib (Tykerb)
  • Anthony Akkari, GlaxoSmithKline, Discovery & Pipeline Genetics
    • Pharmacogenetic Investigation of HIV Medicines Directed Against Host Cellular Targets
  • Arlene R Hughes, GlaxoSmithKline, United States
    • The Collection, Archiving and Isolation of Nucleic Acids from Dried Clinical Samples for Molecular Analysis
  • John Sestanovich, Whatman Inc, Australia
    • Somatic instability in Friedreich ataxia develops after organogenesis, progresses throughout life, and includes large, age-dependent expansions in dorsal root ganglia
  • Sanjay I Bidichandani, University of Oklahoma Health Sciences Center, Oklahoma City, United States
    • Genetic Variation of 5-HT Transcription Factors in Affective Disorders
  • Michael V Bland, University of Otago, Christchurch School of Medicine and Health Sciences, Dept of Pathology, New Zealand
  • Prof Peter R Joyce, University of Otago, Christchurch School of Medicine and Health Sciences, Dept of Psycological Medicine, New Zealand
  • A/Prof Martin A Kennedy, University of Otago, Christchurch School of Medicine and Health Sciences, Dept of Pathology, New Zealand
    • Lack of association of the gene GATA-4 mutation in migraine
  • Ms Sherin Chikhani, Genomic Research Centre, Gold Coast Campus, Griffith University, Australia
    • Identification of two novel schizophrenia candidate genes by mapping the breakpoints of a balanced autosomal translocation t(9;17)(q33.2;q25.3)
  • Mr Tod Fullston, Neurogenetics Laboratory, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide and Paediatrics depar, Australia
    • LRRK2 G2019S mutation and Parkinson’s disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample
  • Dr Stefano Goldwurm, Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy, Italy
    • Lipid Molecular Evidence and Carotid Dynamic Index in Patients with Different ApoE Genotyping
  • Chin-San Liu, Vascular and Genomic Center, Changhua Christian Hospital, Changhua, Taiwan, Taiwan
    • Defining the aetiology of congenital muscular dystrophy in a large cohort
  • Ms Rachel A Peat, Institute for Neuromuscular Research, Children’s Hospital at Westmead, Sydney and The University of Sydney, Australia
    • Zebrafish and Drosophila Model Studies of Neurodegenerative Diseases caused by Dynamic Mutations (expanded repeats)
  • Robert I Richards, CMGD, The University of Adelaide, Australia
    • Transgenic mouse models of SCA3
  • Prof Olaf Riess, Medical Genetics, University of Tuebingen, Germany
    • Duchenne Muscular Dystrophy in Thailand: Diagnosis, Management and Future Therapy
  • A/Prof Thanyachai Sura, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
    • Epilepsy and Mental Retardation Limited to Females (EFMR): Linkage to Xq22 and Candidate Gene Analysis
  • Ms Marta A Zielinski, Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia
    • Griscelli Syndrome, a Brazilian Patient report
  • Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
    • IRAK-4 deficiency: A Tale of Two Sisters
  • Tiong Yang Tan, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
    • Cognitive performance of school-aged children exposed to antiepileptic drugs (AED) in utero
  • Eva Andermann, Montreal Neurological Hospital and Institute, McGill University, Canada
    • Germline mutations in HRAS proto-oncogene cause Costello syndrome
  • Yoko Aoki, Department of Medical Genetics, Tohoku University School of Medicine, Japan
    • Published on Tuesday, 1 August 2006 by the Professional Conference Organiser