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Genomic re-arrangements account for ~8% of deleterious mutations in the in BRCA1 and BRCA2 genes in a population at risk for HBOC
Dr Peter J Ainsworth, University of Western Ontario / London Health Sciences Centre, Canada
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The Psychosocial Impact of Familial Adenomatous Polyposis on Young Adults
Dr Lesley J Andrews, Prince of Wales Hospital, Sydney, Australia
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Activation of the repair of DNA double strand breaks by non-homologous end joining in human BCR/ABL-expressing cells by imatinib mesylate
Janusz Blasiak, Department of Molecular Genetics, University of Lodz, Poland
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Molecular variants of the NBS1 gene in primary pediatric brain tumors
Krystyna H Chrzanowska, Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland
|
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Fibronectin in in human bone tissue remodelling
Regine Dahse, Helios Klinikum Erfurt GmbH, Germany
|
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A rare composite karyotype in a Filipino with diffuse large B-cell cell lymphoma
Ma Luisa D Enriquez, Philippines
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Hereditary breast cancer in women with cancer family history recruited from a community-based sample
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
|
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Female with both a BRCA1 and BRCA2 mutation
Ms Annette Hattam, Queensland Clinical Genetics Service, Australia
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Integrated Use of Genetics and Genomics to Accelerate Development of Targeted Cancer Drugs
Dr Robert Hollingsworth, GlaxoSmithKline, United States
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Implementation of Molecular diagnosis of the BCR/ABL transcript in children with LLA in Costa Rica. First Report
Dr Gerardo A Jimenez, Universidad de Costa Rica, Centro de Investigación en Hematología y Trastornos Afines, Costa Rica
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Should health care providers have a duty to warn family members of individuals with an HNPCC-predisposing mutation? A survey of patients
Kelly E Kohut, Memorial Sloan-Kettering Cancer Center/ Ontario Familial Colon Cancer Registry, United States
|
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Identification of a putative prostate tumor suppressor gene on chromosome 18q22.3
Robin J Leach, University of Texas Health Science Center at San Antonio, United States
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Gene expression and mutational analysis of a minimal region of human chromosome 8p specifically disrupted in colorectal liver metastases
Dr Donia P Macartney, Institute of Environmental Science and Research, New Zealand
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DNA aberrations in an atypical skin cancer cohort
Dr David J Maguire, Australia
Lyn R Griffiths, Genomics Research Centre, Australia
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High throughput screening of genomic copy number changes in chronic lymphocytic leukaemia using array comparative genomic hybridisation
So Young Moon, Cancer Genetics Research Group, Department of Pathology, Christchurch School of Medicine and Health Sciences, New Zealand
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Kallikrein 15 (KLK15): analysis of splice variants and single nucleotide polymorphisms, and their association with ovarian and prostate cancer
Ms Tracy O'Mara, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia
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Identification of cryptic aberrations and characterization of translocation breakpoints in high hyperdiploid childhood ALL using genome-wide array CGH
Kajsa Paulsson, Lund University Hospital, Sweden
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Wild type BRCA2 restores chromosomal stability and cytokinesis in the tumor cells harboring a rare BRCA2 allele
Evgeny Sagulenko, German Cancer Research Center, Germany
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Are polymorphisms in the toll-like receptors associated with disease risk in HNPCC?
Prof Rodney J Scott, Hunter Area Pathology Service, University of Newcastle, Hunter Medical Research Institute, Newcastle, Australia
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Making sense of dHPLC results using knowledge of ancestral haplotypes for BRCA1
Dr Elizabeth L Spriggs, Molecular Diagnostic Laboratory, Health Sciences Centre, Departments of Biochemistry & Medical Genetics and Pediatrics & Child, Canada
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Genetic Polymorphisms in Xenobiotic Clearance Genes and their Influence on Disease Expression in HNPCC patients
Ms Bente A Talseth, Discipline of Medical Genetic, Faculty of Health, University of Newcastle, and the Hunter Medical Research Institute, NSW, Australia
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Familial, clinical and immunophenotypical characterization of HNPCC-suspected patients. Improved family selection for genetic testing analyzing Cdk2 and ß-catenin expression
Miguel Urioste, Spanish National Cancer Centre (CNIO), Madrid, Spain
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KRT8/18 expression differentiates distinct molecular subtypes of grade 3 invasive ductal carcinomas
Logan C Walker, Christchurch School of Medicine and Health Sciences, New Zealand
|
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Method of Three-Dimensional (3D) Analysis of Telomeric Changes in Primary Mouse and Human Cells
Katalin Benedek, MTC, Karolinska Institute, Sweden
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Occurrence of the Burkitt translocation t(8;14) or t(8;22) and the follicular lymphoma translocation t(14;18) together in 7 patients with NHL
Shan Lin, Department of Cytogenetics, Children's Hospital at Westmead, Australia
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Cytologic, cytogenetic and molecular cytogenetic aberrations in plasma cells of patients with multiple myeloma (MM)
Ursula M Paetzold, Institute of Human Genetics, University Bonn, Germany
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Identification of a Novel 11;17 Translocation Involving the NUP98 Gene in Acute Myeloid Leukemia
Jocelyn C Reader, University of Maryland School of Medicine, United States
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Discovery of novel cytogenetic abnormalities in patients with develomental delay, dysmorphology, and mental retardation
Swaroop Aradhya, Stanford University, United States
|
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De novo recombinant chromosome 11 with partial monosomy 11q25-ter and partial trisomy 11p15.1-ter; first case report and discussion of the underlying mechanism
Ms Jennifer L Bryan, Cytogenetics Laboratory, Mater Health Services, Brisbane, Queensland, Australia
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In search of the minimal critical region associated with the distinctive Monosomy 1p36 phenotype.
Mrs Nicole Chia, Cytogenetics, ACT Pathology , Canberra Hospital, Australia
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SNP-GeneChip based copy number assessment improves the resolution of chromosomal abnormalities
Ms Marylou Doody, Mater Pathology, Mater Health Services, Brisbane, Australia
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A Case report of Zimmermann-Laband syndrome caused by a Chromosomal Insertion: ins(12;8)(p11.2;q11.2q24.3)
Engela M Honey, Senior Lecturer, Department of Genetics, University of Pretoria, South Africa
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Comparison of cytogenetic analyses of amniotic fluid specimens following a diagnosis of intrauterine fetal demise (IUFD) and specimens derived from products of conception (POC)
Dr Judith F Knops, Genzyme Genetics, Santa Fe, NM, United States
|
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Sex chromosomes characteristics of intersex patients in Indonesia
Nanis S Marzuki, Eijkman Institute for Molecular Biology, Jakarta, Indonesia
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Small Supernumerary X Chromosome in a Boy with Mild Phenotype
Hironao Numabe, Department of Biomedical Ethics, Kyoto University Graduate School of Medicine, Japan
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cIg-FISH optimization on fixed bone marrow cells
Helena Podgornik, Clinical Center Ljubljana, Hematology Department, Slovenia
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Fragile sites in autosomes: Interchromosomal distribution in patients before ICSI-treatment and their possible influence on the success of the therapy
Gesa Schwanitz, Germany
Ursula M Paetzold, Institute of Human Genetics, University Bonn, Germany
Katrin van der Ven, Department of Obstetrics and Gynecology, University Bonn, Germany
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Aniridia and the 11p13 region: G-banding difficulties and the requirement for FISH/CGH Array to define PAX6 and WT1 status
Mr Luke St Heaps, Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, New South Wales., Australia
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Antisense oligonucleotide induced dystrophin expression in mdx mouse cardiac cells
A/Prof Dr Steve D Wilton, Experimental molecular medicine group, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australia
|
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The use of m-band to identify dual inversions in chromosome 4
Adrian C Zordan, Victorian Cancer Cytogenetics Service, Australia
|
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Extensive Acrochordons and Islet-cell Tumor in Tuberous Sclerosis associated with TSC2 mutations
Dusica Babovic-Vuksanovic, Mayo College of Medicine, United States
|
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Williams-Beuren syndrome: Additional atypical clinical symptoms and deletion size
Rafael Camara, Division of Medical Genetics, University Children's Hospital Basel, Switzerland
|
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Adams-Oliver Like Syndrome with Novel CNS Anomalies: A New Syndrome?
Jane Gillis, Hospital for Sick Children, Department of Metabolic and Clinical Genetics; University of Toronto., Canada
|
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Using the Multi-Axial Diagnostic System (MADS): Twenty Years Experience
Dr Yves Lacassie, Louisiana State University Health Sciences Center and Children's Hospital New Orleans, La, United States
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Complex phenotype and development of an atypical rhabdoid tumour in a boy with a 46,XY,inv(22)(p11.2q12.3).ish inv(22)(WCP22+,TUPLE1+,BCR-,EWS+,MS607+)
A/Prof Julie M McGaughran, Queensland Clinical Genetics Service, Brisbane, Australia
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Prader-Willi syndrome: Molecular analysis by real-time PCR
Ms Teresa B Munce, Mater Pathology, Mater Health Services, South Brisbane AND School of Molecular and Microbial Sciences, University of Queensland, Australia
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Skeletal phenotype in patients with LRP5 mutations – Evidence for a significant carrier phenotype
Anne Saarinen, Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Finland
|
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Abnormalities of tooth size and form associated with familial hypodontia
Prof Emilia M Severin, "Carol Davila"Univ Med Pharm - Bucharest, Romania
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The Dysmorphology of Orofacial Clefting: Syndromes and Birth Defects associated with Cleft Lip and Palate in Victoria, Australia
Tiong Yang Tan, Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia, Australia
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Clinical features of CHARGE Syndrome and 13q22 deletion
Dr Pilar Ureta, Hospital Clínico Universidad de Chile, Chile
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A Comparison Study of Renin and Angiotensin AIILevels in Normotensive Glaucoma Patients and Normal Individuals
Dr Hongmin Yun, Department of Ophthalmology, Peking University Shenzhen Hospital, Shenzhen 518036, China
Wei Wang, China
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Novel mutations in CYP21 gene in patients with 21-hydroxylase deficiency in Iran
Mohammad R Abbaszadegan, Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad University of Medical Sciences (MUMS, Iran
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Preimplantation genetic diagnosis (PGD) for 45,XY,der(4)t(4;22)(q35;q11.2) with subsequent prenatal karyotype revealing a jumping translocation (JT)
Christie Beale, Sydney Genetics Sydney IVF, Australia
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Gene expression profiling of murine spermatogenesis leads to the cloning and characterization of Ard2, a novel mouse Ard1 homologue that is preferentially expressed starting from meiosis
Wai-Yee Chan, National Institute of Child Health and Human Development, National Institutes of Health, United States
|
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Prenatal diagnosis of Ritscher-Schinzel syndrome
Rena E Falk, Cedars-Sinai Medical Center, United States
|
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Choices couples make in prenatal testing for Huntington’s disease
Ms Maria Kaps, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Australia
|
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Prenatal Diagnosis of Pallister-Killian Syndrome
Pauline J McGrath, Queensland Clinical Genetics Service, Australia
|
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Polymorphisms of some candidate genes in diabetic nephropathy in Romanian population
Toma Mihai
|
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Evolutionary alteration of interaction between poly-glutamine tract in ATAXIN-1 and PQBP1
Tatsuaki Kurosaki, Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Japan
|
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Expression of Silent Mutations in Disease Phenotype
Ms Janaki H Shah, School of Biomolecular and Biomedical Sciences, Griffith University & Dept of Endocrinology, Mater Childrens Hospital, Australia
|
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Cloning, expression and characterization of a novel human MDSRP from CD34+ stem/progenitor cells
Wei Wang, China
|
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The attitudes and views of UK non-genetics trainee medical specialists to genetics in their training programmes and clinical practice
Peter A Farndon, NHS National Genetics Education and Development Centre, United Kingdom
|
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What do non-genetics trainee medical specialists need to know about genetics for clinical practice?
Peter A Farndon, NHS National Genetics Education and Development Centre, United Kingdom
|
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Development of an Enterprise Bargaining Agreement (EBA) for Victorian Genetic Counsellors
Susan Fawcett, Genetic Health Services Victoria, Royal Children’s Hospital, Parkville, Victoria, Australia, Australia
|
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The finding of BRCA1 and BRCA2 in the same individual presents unique counselling difficulties
Ms Kim L Frumar, North Coast Area Health Service, Port Macquarie, NSW, Australia, Australia
|
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Genetics education in Japanese medical schools: A survey
Yoshimitsu Fukushima, Department of Medical Genetics, Shinshu University School of Medicine, Japan
|
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Evolution of the Genetic Counselling Profession - Career Pathways and Sole Practitioners
Carolyn L James, Queensland Clinical Genetics Service, Australia
|
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Creating an International MSc in Human Genetics
Prof Michael A Patton, St George's University London, United Kingdom
|
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A de novo unbalanced reciprocal translocation raises the question of an increased risk for chromosomal aberrations of ICSI outcomes?
Sigrun Sodia, Institute of Medical Biology and Human Genetics, Medical University of Graz, Austria
Werner Emberger, Institute of Medical Biology and Human Genetics, Medical University of Graz, Austria
|
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Promotion and Marketing of the Jameslink-OSUCAP - A Web Tool to Assess Cancer Risk
Mr Kevin M Sweet, The Ohio State University Comprehensive Cancer Center, United States
|
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Population genetic structure, ancestry, admixture and confounding in the Reynold-Stanford cardiovascular case-control association study
Analabha Basu, University of California, San Francisco, India
|
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Consanguinity, fertility and early mortality in Sweden during the 18th and 19th centuries
Prof Alan H Bittles, Edith Cowan University, Australia
|
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Cantu Syndrome: Two new unrelated cases
Dr Jose M Cantu, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
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Genetic boundaries in the greater Himalayan region: the impact of geographical and linguistic barriers on the maternal and paternal gene pools
Denise R Carvalho-Silva, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom, United Kingdom
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Wheat flour fortification with folic acid reduces the rate of neural tube defects, has no effect on the rate of multiple births, and has been associated with a decrease in the stillbirth rate in Chile
Fanny M Cortés, INTA, University of Chile, Chile
|
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Contribution to the family aggregation studies of Gastroesophageal Reflux Disease (GERD) and cancer in general, in patients with GERD and Esophagus Cancer (EC)
Prof Dertia V Freire-Maia, São Paulo Federal University (UNIFESP), Brazil
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Identification of GATA2 polymorphisms associated with early onset coronary artery disease
Simon G Gregory, Center for Human Genetics, Duke University, Durham, NC, United States
|
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Tracking the evolutionary history of the Warrior gene across the South Pacific: Implications for genetic epidemiology of behavioral disorders
Mr David A Hall, Institute of Environmental Science and Research, New Zealand
|
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Why didn't you tell me? Disclosure about genetic risk in infertility patients
Mrs Andrea J Hayward, Genesis Clinical Genetics, Australia
|
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Susceptibility genes in New Zealand Crohn’s disease patients
Ms Jiwon Hong, Department of Molecular Medicine & Pathology, University of Auckland, Auckland, New Zealand
|
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Candidate Gene Association Analysis of Severe Lung Injury in Pediatric Community Acquired Pneumonia
Julia Krushkal, University of Tennessee Health Science Center, United States
|
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Fourth female case of Myhre Syndrome
Dr María G Lopez-Cardona, Instituto de Genetica Humana, CUCS, Universidad de Guadalajara, Mexico
|
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Glutathione-S-transferase M1 polymorphisms and susceptibility to esophageal cancer among three Chinese minorities: the Kazakh, Uygur and Tajik
Dr Xiao-Mei Lu, Medical Research Center, 1st Teaching Hospital, Xinjiang Medical University, Urumqi 830054, Xingjian Uygur Autonomous Region, C, China
Wei Wang, China
|
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Influence of Serotonin Transporter and Receptor Gene Polymorphisms on Cognitive Abilities in a Community-based Australian Sample
Holly A Mack, The Centre for Mental Health Research, Australia
|
|
ADAM33 Genotype as a Predictor of Chronic Obstructive Pulmonary Disease
Ms Alokananda Maitra, Institute of Environmental Science and Research, New Zealand
|
|
Distribution of glucose-6-phosphate dehydrogenase deficiency in Southeast Asia and Oceania
Ms Aya Ninokata, Graduate school of Science, The University of Tokyo, Japan
|
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Bivariate Mixture Modelling of Age at Onset Data in Twins
Mr Christopher J Oldmeadow, Queensland University of Technology, Australia
|
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Segregation of t(19;22) in five generations resulting in three cases of Phelan-McDermid syndrome
Mary C Phelan, Molecular Pathology Laboratory Network, United States
|
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Islands of euchromatic-like sequence and expressed genes within the short arm of HSA21: sequence and copy number variability
Alexandre Reymond, Center for Integrtaive Genomics, University of Lausanne, Switzerland
|
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Frequency of hemoglobin S and C and their association with malaria episodes in two populations of different ethnic origins in eastern Sudan
Niven A Salih, Institute of Endemic Diseases,University of Khartoum,Sudan, Sudan
|
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Familial aggregation of nephropathy in FAP-I ATTRV30M
Alda Sousa, ICBAS and IBMC, Univ Porto, Portugal
|
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Phylogeography of Y-chromosomal lineages in Siberia and Cenral Asia
Vadim A Stepanov, Institute for Medical Genetics, Russia
|
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Interactions between SRD5A2 V89L and VDR FokI Polymorphisms in Relation to Risk for Prostate Cancer
Kathleen C Torkko, University of Colorado at Denver and Health Sciences Center, United States
|
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An integrated data analysis workflow for the characterization of genetic events in Glioblastoma multiforme using Affymetrix GeneChip® U133 plus 2 expression arrays, Mapping 100K arrays and RPCI BAC arrays
Yaron Turpaz, Affymetrix, Inc., United States
|
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A single-nucleotide polymorphism in ABCC11 gene is the determinant of human earwax type
Dr Koh-ichiro Yoshiura, Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki Japan, Japan
|
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Inhibin A parameters and prenatal screening for Down's syndrome
David A Aitken, Institute of Medical Genetics, United Kingdom
|
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Genetic testing for Facioscapulohumeral muscular dystrophy: an update
Egbert Bakker, Leiden University Medical Center, The Netherlands
|
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Genetic Services for Hereditary Breast/Ovarian and Colorectal Cancers: Physicians’ awareness, utilization and satisfaction
Dr June C Carroll, Mount Sinai Hospital, University of Toronto, Canada
|
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First trimester serum markers of adverse pregnancy outcome.
Dr Jennifer A Crossley, Institute of Medical Genetics, United Kingdom
|
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Prenatal screening for Down's syndrome: 5 years experience of combined ultrasound and biochemical screening in the first trimester
Dr Jennifer A Crossley, Institute of Medical Genetics, United Kingdom
|
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Genetic testing for rare disorders – maximising cost-effectiveness
Dr Kathie Friend, Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, Australia
|
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Are Referral Patterns for Prader Willi and Angelman Syndromes Bimodal – “Early” and “Late”?
Ms Julianne E Jackson, The Children's Hospital at Westmead, NSW Australia, Australia
|
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An Integrated Program for the Definition of the Genetic Types of Neuronal Ceroid Lipofuscinoses (NCL) in Latin America
Romina Kohan, Centro de Estudio de las Metabolopatías Congénitas-CEMECO-Facultad de Ciencias Médicas, Universidad Nacional de Córdoba., Argentina
Prof Inés Noher de Halac, PhD, Centro de Estudio de las Metabolopatías Congénitas-CEMECO-Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, CONIC, Argentina
|
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Health perception in individuals requesting pre-symptomatic testing for late-onset neurological diseases
Drª Ângela M T Leite, Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal, Portugal
|
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Investigation of genetic polymorphism of NAD(P)H quinine oxidoreductase 1 (NQO1) among Iranian ethnic groups
Frouzandeh Mahjoubi, NIGEB, Iran
|
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Umbilical cord blood biomarkers: early intervention on Fetal Alcohol syndrome
Danilo Moretti-Ferreira, São Paulo State University - UNESP, Brazil
|
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Genetic analysis of long QT syndrome in New Zealand
Ms Carey-Anne Nel, Cardiac Inherited Disease Group, Auckland City Hospital and Department of Obstetrics and Gynaecology, University of Auckland, New Zealand
|
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"My baby is safe, I married out." Informed choice in the Jewish genetic screening program
Debbie C Redelman, Pacific Laboratory Medicine Services (PaLMS), Australia
|
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The “new” x-linked hypotonia – mental retardation syndromes
Richard C Rogers, Greenwood Genetic Center, United States
|
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Gender and genetic risk
Bree Ryan, University of Queensland, Australia
|
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Preimplantation genetic diagnosis (PGD) for HLA Matching – The Sydney IVF experience
Maria V Traversa, Sydney IVF, Australia
|
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Evaluation of High Resolution Melt Analysis for mutation scanning
Dr Helen E White, National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, Wiltshire, SP1 3AZ, UK, United Kingdom
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Reference reagents for genetic testing: development of plasmid based mutation detection reagents by the UK National Genetics Reference Laboratory (Wessex)
Dr Helen E White, National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, Wiltshire, SP1 3AZ, UK, United Kingdom
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Gene assembling, a new approach for molecular diagnosis of hereditary breast cancer
Vahid R Yassaee, Shaheed Beheshti University of Medical Sciences, Iran
|
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Identification of small regions of copy number changes in fresh and formalin fixed primary ovarian tumors using the Affymetrix® 500K human mapping SNP array
Ian G Campbell, Peter MacCallum Cancer Centre, Australia
|
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Cytogenetic Screening In NICU and PICU Babies-A Prospective Indian Study
Usha P Dave, Centre for Research in Mental Retardation (CREMERE), India
|
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“Good evening, I’m calling on behalf of a government agency seeking your opinion on gene therapies … ”
Ms Sharon Ding, Biotechnology Australia, Australia
Dr Goncalo R Abecasis, University of Michigan, United States
|
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Enzyme replacement therapy (ERT) in young children with Mucopolysaccharidosis type I (MPS I) – preliminary results on three patients who started ERT before 24 months of age
Roberto Guigliani, Brazil
|
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Rare Copy Number Changes Identified In Congenital Heart Disease Using ROMA
Vaidehi Jobanputra, Columbia University Medical Center, New York, NY, United States
|
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Effect of Sex and Genotype on Gene Expression in Lymphoblastoid Cell Lines from Monozygotic Twins
Dr Allan F McRae, Genetic Epidemiology Group, Queensland Institute of Medical Researc; Institute of Evolutionary Biology, University of Edinburgh, Australia
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The Pompe Registry in Latin America
MD, MSc Antonio Abílio P Santa Rosa, Ministério da Saúde, Hospital Geral de Bonsucesso, Latin American Lysosomal Storage Diseases Board of Advisors, Brazil
|
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A functional SNP of PTPN22 is associated with childhood-Onset Systemic Lupus Erythematosus, but not with Juvenile Rheumatoid Arthritis in Mexican Population
Rafael Velázquez-Cruz, Instituto Nacional de Medicina Genómica, SS; Programa de Doctorado en Ciencias Biomedicas, UNAM, Mexico city, Mexico., Mexico
Lorena Orozco, Instituto Nacional de Medicina Genómica, SS, Mexico city, Mexico., Mexico
|
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A Preliminary Forensic DNA Program in PR China
Wei Wang, China
|
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A Microarray-based DNA pooling study based on 100K GeneChip
Hsin-Chou Yang, Institute of Biomedical Sciences, Academia Sinica, Taiwan
|
|
A probabilistic approach to predicting compensatory substitutions for pathogenic mutations
Mr Brett C Easton, Centre for Bioinformation Science, John Curtin School of Medical Research and Mathematical Sciences Institute, Australian Natio, Australia
|
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A Linear Mixing Model for Probe Responses from SNP Microarrays: Applications to Copy Number Mapping and Clinical Cytogenetics
Dr Garry N Hannan, CSIRO Preventative Health Flagship, Sydney, Australia; CSIRO Molecular and Health Technologies, Sydney, Australia;, Australia
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Alignment of biological sequence pairs using two PHMMs
Raymond Sammut, Centre for Bioinformation Science, Australia
|
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DNA polymerase gamma mutant proteins have different enzymatic properties but are associated with the same mitochondrial diseases
Dr Sherine S Chan, National Institute of Environmental Health Sciences, NIH, United States
|
|
Lorenzo’s oil treatment: effects on oxidative stress parameters in X-linked adrenoleukodystrophy
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
|
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Screening for Pompe disease: Further evidences that acarbose is a selective inhibitor of acid and neutral alfa-glucosidase on dried-blood filter paper samples
Dr Roberto Giugliani, Medica Genetics Service. HCPA, UFRGS, Brazil, Brazil
|
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Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
Julio Montoya, Universidad de Zaragoza, Spain
Ms María D Herrero, Universidad de Zaragoza, Spain
|
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Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency: the molecular aspect and clinical phenotype
Bing-Zhi Yang, Baylor University Medical Center, United States
|
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Genome-wide linkage scan for QTL influencing infant growth rate: The Fels Longitudinal Study
Dr Ellen W Demerath, Wright State University Boonshoft School of Medicine, United States
|
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Genetic Association of the PTPN22 R620W Polymorphism in Familial and Sporadic SLE in European-Americans
Kenneth M Kaufman, Oklahoma Medical Research Foundation; US Veterans Affairs Medical Center, OK, United States
|
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Clinical and molecular-cytogenetic characterization of three cases of partial 1q duplication
Leslie D Kulikowski, Genetics Division, Departament of Morphology, Universidade Federal de São Paulo,SP, Brazil
Dr Maria I Melaragno, Genetics Division, Departament of Morphology, Universidade Federal de São Paulo,SP, Brazil
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Amplification of hTERT and hTERC genes in leukemic cells with high expression and activity of telomerase
Prof Jerzy Nowak, Institute of Human Genetics Pol.Ac.Sci., Poland
|
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Chromosome 5q31-33, the cytokine cluster region scanning for the identification of genes associated with asthma
Bermseok Oh, National Institute of Health, Korea
|
|
A Genome-wide Screen Identifies a Quantitative Trait Locus for Human HDL-cholesterol
Mr Sampo Sammalisto, Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
|
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Influence of the ADH gene family and ALDH2 gene upon in vivo alcohol metabolism in Caucasians
Andrew J Birley, Queensland Institute of Medical Research, Brisbane, Australia
|
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Association between a 19bp deletion polymorphism at the dopamine ß-hydroxylase locus and migraine with aura
Dr Francesca Fernandez, Genomics Research Centre, School of Health Science, Griffith University, Gold Coast, Queensland, Australia
|
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DRD4 genotype and activity level predict Alzheimers in the oldest-old
Deborah L Grady, Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA 92697, United States
|
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Genetic variation of the T-type calcium channel gene CACNA1H in patients with idiopathic epilepsy
Ms Sarah E Heron, Department of Genetic Medicine, Women’s and Children’s Hospital, North Adelaide, South Australia., Australia
|
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Quantification of Relative Gene Dosage by Single Base Extension and High-Performance Liquid Chromatography: Application to SMN1/SMN2 Gene
Mr Chia-Cheng Hung, Institute of Biomedical Engineering, National Taiwan University, Taipei, Taiwan
|
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Common variation the glucocorticoid receptor locus modifies the association between length at birth and glucose tolerance in adult life
Eero Kajantie, National Public Health Institute, Finland
|
|
Gene expression analyses of liver, and omental and subcutaneous adipose tissue, from morbidly obese subjects
Dr Donia Macartney, Institute of Environmental Science and Research, New Zealand
|
|
Gene mapping studies in endometriosis families
Grant W Montgomery, Queensland Institute of Medical Research, Australia
|
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Sensitive detection of polyalanine tract of PHOX2B by PCR using deaminated DNA: no association of sudden infant death syndrome with congenital central hypoventilation syndrome
Motoki Osawa, Department of Forensic Medicine, Tokai University School of Medicine, Japan
|
|
Genetic susceptibility to fetal alcohol syndrome (FAS): Candidate gene association studies in South African Coloured populations
Michele Ramsay, NHLS and University of the Witwatersrand, South Africa
|
|
Electrocardiography in Down syndrome patients: late maturation, early aging
Prof Dr Algimantas Sinkus, Kaunas University of Medicine, Lithuania
|
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Linkage and association between polycystic ovary syndrome and chromosome 19p13.2
Prof R S Spielman, University of Pennsylvania, United States
|
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Repetitive and sequence TSPY gene polymorphism in infertile men and immunofluorescent Tspy protein detection in paraffin embedded seminomal tissues
Dr Radek Vrtel, Department of Clinical genetics and foetal Medicine, University Hospital Olomouc, Czech Republic
|
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Genome-wide association study combining incomplete high resolution SNP data with sparse markers from a linkage scan
Wei-Min Chen, University of Michigan, United States
|
|
Haplotype analysis of the methylenetetrahydrofolate reductase (MTHFR) gene in the Sri Lankan population
Dr Vajira HW Dissanayake, Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka
|
|
Sequencing and recombination analysis identify HLA-C as the psoriasis gene at PSORS1, the major susceptibility locus on chromosome 6
Rajan P Nair, University of Michigan, United States
|
|
Homozygosity mapping using Whole Genome SNP chips to identify a region of linkage disequilibrium
Margit Burmeister, Molecular & Behavioral Neuroscience Inst., University of Michigan, United States
|
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Prevalence, impact and genetics of slight/mild sensorineural hearing loss in school age children
A/Prof Hans-Henrik M Dahl, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne & Department of Paediatrics, University of Melbourne, Australia
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Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian kindreds with nephrogenic diabetes insipidus
Luiz De Marco, Universidade Federal de Minas Gerais, Brazil
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Loss of aprataxin function associated with early-onset ataxia impairs DNA single strand break repair
Makito Hirano, Nara Medical University, Department of Neurology, Japan
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A proposed new strategy for identifying genetic disease genes
Prof Landian Hu, Health Science Institute, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Jiaotong Univer, China
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Dural ectasias associated with novel TGFBR2 mutation in Dutch type II Marfan syndrome family
A M Lachmeijer, Dept of Clinical Genetics and Human Genetics, VU University medical centre, Amsterdam, the Netherlands, The Netherlands
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Novel slow-skeletal/beta cardiac myosin mutations in Laing early onset distal myopathy and myosin storage myopathy
Nigel Laing, University of Western Australia, Australia
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Characterization of the KRAB/ZNF gene cluster on Xp11 involved in mental retardation
Dorien Lugtenberg, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Detailed Haplotype Analysis of the HD Gene
Alexandre Montpetit, McGill University and Genome Quebec Innovation Centre, Montreal, Canada
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Complex genetic approaches to monogenic disease: Genomic and transcriptomic dissection of normal expression of CTNS, the gene involved in nephropathic cystinosis
Dr Eric K Moses, Southwest Foundation for Biomedical Research, San Antonio, Texas, United States
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Interaction between a KCNQ1 mutation and Cell Stretch in Familial Atrial Fibrillation
Robyn T Otway, Victor Chang Cardiac Research Institute, Australia
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A Novel Pathogenic Mutation and Possible Synergistic Heterozygosity Contributing to Respiratory Chain Complex I Deficiency
Dr Renato Salemi, Murdoch Children's Research Institute, Royal Children’s Hospital, Melbourne, Australia
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Locus and allelic heterogeneity in Lafora's progressive myoclonus epilepsy: Novel mutations in EPM2A and NHLRC1 genes and genotype-phenotype correlations
Shweta Singh, Indian Institute of Technology, Kanpur, India
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From DNA to phenotype: A study about the involvement of the Fragile X Syndrome molecular mechanisms on the clinical characteristics of female carriers
Isabel Tejada, Laboratorio de Genética Molecular. Hospital de Cruces. Baracaldo, Bizkaia., Spain
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Atypical Beckwith-Wiedemann phenotype, bilateral phaeochromocytomas, cerebral and renal artery stenoses, associated with segmental uniparental disomy of 11p and 11q
Dr Meredith Wilson, Children's Hospital Westmead, Australia
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Fabry Management Team – the NSW experience
Ms Kerry Devine, Westmead Hospital NSW Australia 2145, Australia
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Inhibition of Aberrant Splicing of IVSI-110 β-globin pre-mRNA by Antisense Oligonucleotide
Dr Sima Mansoori Derakhshan, Cell and Gene Therapy Group, The Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia., Australia
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Upregulation of ABCD2 through VPA: a new therapeutic approach for X-adrenoleukodystrophy?
Aurora Pujol, Centre de Genètica Mèdica i Molecular IDIBELL, Spain
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Humanised Mouse Models for Common β-Thalassemia Mutations
Dr Jim Vadolas, Cell and Gene Therapy Group, The Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia., Australia
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Making sense in spite of nonsense: a splice intervention therapy for Duchenne Muscular Dystrophy
A/Prof Steve D Wilton, Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands, WA, Australia
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Identification of Novel Genes in Eye Development in Balanced Translocation Patients
Ms Marija Mihelec, Eye Genetics Group, Embryology Unit, CMRI; The Children's Hospital at Westmead; Save Sight Institute, University of Sydney, Australia
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A Human Specific Change in FZD10 Gene involved in Limb Development
Rowena F Stern, Cambridge Institute for Medical Research, United Kingdom
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Identification of candidate disease genes using genomics based screening approaches
Dr Carol Wicking, Institute for Molecular Bioscience, The University of Queensland, Australia
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Disruption of conserved non-coding elements in a t(10;13)(q26;q31)de novo
Ms Elizabeth Engenheiro, Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, University of Copenhagen, Denmark
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Comparative analysis of chimpanzee and human Y chromosomes unveils complex evolutionary pathway
Yoko Kuroki, RIKEN Genomic Sciences Center, Japan
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Global Ethical, Legal, Social and Regulatory Strategies for Integrating Pharmacogenetic Research into Large Scale Clinical Trials
Beth Balkite, Genetics Research, GlaxoSmithKline, United States
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The Jameslink-OSUCAP in the Community: Impact of a Cancer Risk Assessment Program
Kimberly M Kelly, The Ohio State University, United States
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The dilemma of Late Stage Care in Huntington's Disease
Dr Sheila A Simpson, Clinical Genetics, NHS Grampian, United Kingdom
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Prenatal screening: informed decision-making, routinization and resistance
Brenda J Wilson, University of Ottawa, Canada
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SOX9cre1: a distal SOX9 regulator that interacts with Hh signaling factors
Gabriel A Bien-Willner, Baylor College of Medicine, Houston, Texas, United States
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Possible sequence elements involved in the epigenetic formation of ectopic centromere chromatin
Anderly C Chueh, Murdoch Childrens Research Institute, Australia
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Effect of Size on Virtual Population Growth
M Linton Herbert, Sun Coast Hospital, United States
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Characterisation of chromatin and centromere behaviour in Roberts syndrome
Jeffrey M Craig, Murdoch Childrens Research Institute, Australia
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Migraine susceptibility genotypes and B vitamins as a prophylactic treatment
Natalie J Colson, Genomics Research Centre, Australia
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Rosiglitazone in Alzheimer's Disease: Efficacy Pharmacogenetics and Support for a Pathogenetic Hypothesis of Disease
Ann M Saunders, Research and Development, GlaxoSmithKline, United States
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Vanishing white matter (VWM) disease as a cause of progressive myoclonus epilepsy
Eva Andermann, Montreal Neurological Hospital and Institute, McGill University, Canada
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Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
Craig L Bennett, University of Washington, United States
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Depletion and 4,977 bp Deletion of Mitochondrial DNA in Leukocytes of Patients with Mitochondrial Disorders and Neurodegenerative Diseases
Wen-Ling Cheng, Department of Neurology and Vascular & Genomic Center, Changhua Christian Hospital, Changhua, Taiwan 500, Taiwan
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SCN1A Mutations and Epilepsy
Leanne M Dibbens, Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia
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Clinical and molecular genetic analysis of idiopathic generalized epilepsy in Kuwaiti Arab children
Prof Mohammad Z Haider, Kuwait University, Faculty of Medicine, Pediatrics Department, Kuwait
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A New Autosomal Recessive Model for Demyelinating Neuropathy?
Chelsee A Hewitt, The Walter and Eliza Hall Institute, Australia
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A nonsense mutation of GABRG2 found in a sever epilepsy phenotype leading to trafficking abnormality of GABAA receptors and apoptosis
Mr Atsushi Ishii, Department of Pediatrics, School of Medicine, Fukuoka University, Japan
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Schizencephaly as a result of thrombocytopaenic fetal brain haemorrhage
George McGillivray, Murdoch Children's Research Institute, Australia
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Familial aggregation and age of onset in Parkinson’s disease
Dr George D Mellick, Princess Alexandra Hospital, Australia
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Characterisation of abnormalities of alpha-dystroglycan in a cohort of Australian patients
Dr Janine M Smith, Institute for Neuromuscular Research, Department of Clinical Genetics, Children’s Hospital at Westmead, Discipline of Paediatri, Australia
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ApoE4 Allele Frequency and Alteration of Vitamin E in Patients with Alzheimer's Disease
Cheng-Yu Wang, Information System Department; Vascular and Genomic Center, Changhua Christian Hospital, Changhua, Taiwan, Taiwan
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Can MSRV be engaged in a development of multiple sclerosis?
Mariola Zawada, Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland, Poland
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Parental smoking impairs vaccine responses in children with atopic genotypes
Dr Gareth S Baynam, Genetic Services of Western Austrlia and Telethon Institute for Child Health Research, Australia
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Genetic analysis of molecules related to dsRNA recognition in subacute sclerosing panencephalitis
Dr Toshiro Hara, Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Japan
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Verbal and non-verbal abilities in Williams-Beuren syndrome
Danilo Moretti-Ferreira, São Paulo State University - UNESP, Brazil
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