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Worldwide investigation of a BRCA1 founder mutation causing breast-ovarian cancer found exclusively in the Greek population
Dr Theodore Anagnostopoulos, Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research, Greece
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KIF14 mRNA expression is a predictor of grade and outcome in breast cancer
Mr Timothy W Corson, Ontario Cancer Institute/University of Toronto, Canada
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Canine: a genomic model for human breast cancer
Dr Silvia SE Crusco, UNIP - Universidade Paulista, Brazil
Dr Marcela MP Milazzotto, FMVZ- USP, Brazil
Dr Hugo H Murua Escobar, Center for Human Genetics - Bremen, Germany
Dr Fabiane F Siqueira, UNESP, Brazil
Dr Luiz LL Coutinho, ESALQ - USP, Brazil
Dr Claudio CM Melo, Universidade Federeal de Santa Catarina, Brazil
Dr Alexandre AL Andrade, UNESP, Brazil
Dr Jose JF Garcia, UNESP, Brazil
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Inflammation degree of esophageal mucosa cells from Gastroesophageal Reflux Disease (GERD) patients is related to DNA damage frequency
Prof Dertia V Freire-Maia, Sao Paulo Federal University (UNIFESP), Brazil
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Frequency and accuracy of the first-degree family history of cancer
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
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Hs.568769 and DNTT (TdT): ‘partners in crime’ in a novel t(5;10) translocation in ALL?
Dr Sheryl M Gough, Cancer Genetics Research Group, Pathology, Christchurch School of Medicine & Health Sciences, Christchurch, New Zealand, New Zealand
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Genetic characterization of chordoma using tiling resolution BAC microarrays
Dr Karolin Hansén Hallor, Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
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A large duplication including exons 3 to 7 of the mismatch repair gene MSH 2 is associated with the Muir-Torre syndrome
Ingo Hansmann, Institut für Humangenetik und Medizinische Biologie; MLU Halle-Wittenberg, Halle/Saale, Germany
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Haplotype and linkage disequilibrium analysis of BRCA1 and BRCA2 genes: identification of a hemizygous region of BRCA2 in a German high risk breast cancer familiy
Wera Hofmann, Department of Tumor Genetics, Max Delbrück Center for Molecular Medicine, Germany
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Fine Mapping Of The 15q Glioma Susceptibility Locus And Search For Candidate Genes
Hong Jiao, Karolinska Institute, Sweden
|
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Localization of breast cancer modifying loci using a whole genome SNP linkage disequilibrium mapping
Tomas Kirchhoff, Memorial Sloan-Kettering Cancer Center, New York, United States
|
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BORIS Transcripción in Fibrocystic Mastopathy: A Case Report
Brissia Lazalde, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico
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Altered X chromosome inactivation profiles in breast and ovarian cancer
Felicity Lose, Queensland Institute of Medical Research, Australia
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Complex structural and numerical abnormalities in myelodysplastic/myeloproliferative disorders
Agripina G Lungeanu, Romania
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Germinal mutation of NBS1 gene as a risk factor for acute lymphoblastic leukemia in children
Prof Jerzy Nowak, Institute of Human Genetics Polish Academy of Sciences, Poland
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Fine mapping of regions containing potential prostate cancer susceptibility genes in a large Tasmanian family
Briony Patterson, Menzies Research Institute, University of Tasmania, Private Bag 23, Hobart, 7001., Australia
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Efficiency of extraction and amplification of DNA from formalin-fixed paraffin-embedded archival bone marrow trephine specimens
Dr Dipti Talaulikar, ACT Pathology & The Canberra Hospital, Australia
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Knocking down of Hsp27 radiosensitizes DU145 cancer cells
Dr Shahram Teimourian, Immunology, Asthma & Allergy Research Institute, Children Medical Center, Tehran University of Medical Sciences, Iran
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Expression Profiling of Familial Breast Tumours
Nic Waddell, Queensland Institute of Medical Research, Australia
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Identification of novel chromosome 22 tumour suppressor genes involved in ovarian and breast cancer
Louise H Williams, Peter MacCallum Cancer Centre, Australia
|
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Prospective study of 174 Chinese de novo acute myelogenous leukemias according to the WHO classification: subtypes, cytogenetic features and FLT3 mutations
Dr Liming Bao, Cincinnati Children's Hospital Medical Center and University of Cincinnati, United States
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The pressure of genetic disease on Iran: Strategies towards prevention
Nasrin Ghasemi, Yazd Shahid Sadoughi Medical Sciences University, Iran
|
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Detection of MALT1 gene rearrangements by FISH using AP12 and MALT specific probes in the peripheral blood lymphocytes of the Helicobacter Pylori seropositive patients
Stavroula N Kokkinou, SISMANOGLIO GENERAL HOSPITAL - CYTOGENETIC UNIT, Greece
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Screening for Sub-microscopic Chromosomal Rearrangements in Wilms Tumor using Whole Genome Microarrays
Evica Rajcan-Separovic, University of British Columbia, Canada
|
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Cytogenetic Review of Paediatric AML over 7 Consecutive Years
Arabella Smith, Department of Cytogenetics, Children's Hospital at Westmead, Australia
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Cytogenetic study of 145 myelodysplastic syndromes from India
Babu Rao Vundinti, Institute of Immunohaematology (ICMR), India
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Combined Cytogenetic and Y Chromosome Microdeletion Screening of Turkish Infertile Males
A/Prof Dr Dilek Aktas, Department of Genetics, Hacettepe University Medical School, Ankara, TURKEY, Turkey
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Genetic counseling for BRCA1/2 among a population-based cohort of women with breast carcinoma in situ
Elizabeth B Claus, Yale University School of Medicine, United States
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A case-control association study for analysing the implication of different candidate genes in congenital hip dislocation
Claude Férec, INSERM U 613 "Génétique moléculaire et génétique épidémiologique", Brest, France
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Unexpected cryptic chromosomsal complexity: microarray and FISH analysis reveals an interstitial duplication of 5q13 present in a recombinant chromosome arising from a complex paternal chromosome rearrangement involving chromosomes 5, 7 and 12
Ms Barbara Gibbons, North East London Regional Cytogenetics Laboratory, Great Ormond St Hospital, London, United Kingdom
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Inheritance of a maternal preferentially inactivated X by a monosomy X conceptus
Kathy Hardy, Cyto Labs Pty Ltd, Australia
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A novel 3.5 Mb interstitial deletion of chromosome 15q24.1-q24.3 detected by array CGH and review of the literature
Eva Klopocki, Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Germany
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Jumping Translocation at Prenatal Diagnosis
Rajkumar Krishnaswamy, TissuPath Pty Ltd, Australia
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Inherited and “de novo”chromosomal changes identified in cases with reproductive failures
Agripina G Lungeanu, Romania
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Biparental inheritance of non-mosaic 5-5 translocation
Nicole J Martin, Queensland Fertility Group, Australia
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Genetic Analysis of the relationship between NRG, ErbB and Schizophrenia
Dr Matthew R Nelson, GlaxoSmithKline, United States
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Array-CGH: a useful tool to detect and characterise subtelomere abnormalities in patients with intellectual disability
Jillian K Nicholl, Children,Youth and Women's Health Service, Australia
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Detailed Mapping of a Deletion at Chromosome 5q14.3 involving MASS1/VLGR1 in a Patient with Myoclonic Epilepsy
Hua Ren, Murdoch Childrens Research Institute, Australia
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Partial trisomy 12q by duplication of 12q12->q21: a rare chromosome aberration
Ms Deise H Souza, São Paulo State University - UNESP, Brazil
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Sodium Selenite Induces Apoptosis in Cultured Cortical Neurons with Special Concomitant Changes in the Expression of Apoptosis-related Genes
Prof Rong Xiao, Department of Nutrition & Food Hygiene, Capital University of Medical Sciences, Beijing 100069, P.R.China, China
Wei Wang, China
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A Novel Mutation in the OFD 1 Gene in A Filipino Child with Oral Facial Digital Syndrome Type 1
Eva Maria Cutiongco, National Institutes of Health Philippines, Philippines
|
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Microcephaly and radio-ulnar synostosis: another case of Giuffrè-Tsukahara syndrome with supposed X-linked semi-dominant inheritance
Harald Gaspar, Switzerland
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Epiphyseal Dysplasia and Other Skeletal Anomalies in a Patient with the 6p25 Microdeletion Syndrome
Dr Peter Kannu, Genetic Health Services Victoria, Melbourne, Australia, Australia
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Tel-Hashomer camptodactyly syndrome in a 10 year-old boy
Dirk Korinth, Switzerland
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De novo duplication (19)(q13.1q13.3); second case with a mild phenotype
Julie M McGaughran, Queensland Clinical Genetics Service, Australia
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Clinical features of CMT associated with mutations in the neurofilament light chain polypeptide gene
Gabriel Miltenberger-Miltenyi, Dept. of Medical Genetics and Molecular and Clinical Pharmacology, Innsbruck Medical University, Austria, Austria
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Blepharofacioskeletal syndrome and Schilbach-Rott syndrome are the same disorder: another case
Danilo Moretti-Ferreira, São Paulo State University - UNESP, Brazil
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Likelihood ratio tests of association for X-linked genes using a case-parents design
Richard Morris, Anesthesiology, DUKE University, United States
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Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome
Hong Pan, Peking University First Hospital, China
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Congenital cataracts, facial dysmorphism, neuropathy - clinical study of a new family
Dr Cristina Rusu, University of Medicine, Department of Medical Genetics, Romania
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A new syndrome of jaw fusion, microcephaly and colobomata?
Rachel D Susman, Queensland Clinical Genetics Service, Australia
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Characterization of Proteus Syndrome Associated with Atrial Septal Defect in a Thai Male Adolescent with Disproportionate Overgrowth Disorder
Dr Objoon Trachoo, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Clinical Manifestations of Beta Thalassemia-Hb E Disease Associated with IgA Nephropathy in a Thai Identical Twin
Dr Objoon Trachoo, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
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Depression as a Diagnostic Clue to Undiagnosed Klinefelter Syndrome
Stephen J Withers, Genesis Clinical Genetics, Australia
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Quantification of male (foetal) cells in a background of female (maternal) cells.
Dr Richard Allman, Genetic Technologies Ltd, Australia
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Couple Cystic Fibrosis Mouthwash Screening: Experience of an after-hours Drop in Clinic Service. Is it working?
Louise Christie, GOLD Service, Hunter Genetics, Australia
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Mosaic tetrasomy 18p: Studies of parent and cell division of origin, prenatal and postnatal findings in 3 carriers
Dagmar Hansmann, Institute of Prenatal Diagnosis and Genetic Counselling, Bonn-Meckenheim, Germany
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Birth defects and possible imprinting defects after assisted conception
Dr Paul AL Lancaster, Northern Clinical School, University of Sydney, Royal North Shore Hospital, St Leonards NSW, Australia, Australia
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MTHFR C677T polymorphism and elevation of transaminases in Mexican patients with Rheumatoid Arthritis treated with methotrexate
Juan P Mena, Doctorado en Genetica Humana, IGH, U de G; Division de Genetica CIBO, IMSS, Mexico
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Prenatal Diagnosis of Menkes Disease
Dr Nicholas Pachter, Genetic Health Services Victoria & Royal Women's Hospital, Melbourne, Australia
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Pregnancy after preimplantation genetic diagnosis exclusion testing for amyotrophic lateral sclerosis
Sharyn E Stock-Myer, Melbourne IVF, Australia
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Quality aspects in prenatal cytogenetic diagnostics: Effect of various factors on the quality of in situ culture and slide preparation of primary amniotic fluid and chorionic villi biopsy cells
Ron F Suijkerbuijk, Department of Clinical Genetics, University Medical Center Groningen, The Netherlands
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Dynamic regulation of dyslexia candidate gene product DYX1C1 in cell stress reaction
Nina J Kaminen-Ahola, Department of Medical Genetics, University of Helsinki, Finland
|
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Unequal distribution of Alu repeat conformations in human genes
Harald M Oey, Australia
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Frequency of Sequestosome 1 (SQSTM1) Mutations in Hereditary and Sporadic Paget’s Disease of Bone in the United States
Emily C Rhodes, Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio, TX, United States
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Genetic Counselling Within a Multidisciplinary Team Setting
Jennifer L Berkman, Queensland Clinical Genetics Service, Australia
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A successful example of (Re)Establishing a Genetic Counselling Service in rural NSW, Australia
Mr Matthew J Burgess, Greater Southern Area Health Service, NSW, Australia
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Genetics education for midwives in Victoria (Australia) - The current scene
Ms Yasmin Bylstra, GEM Consortium, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
|
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Lost in translation – the challenges of genetic counselling for the Sudanese population
Kellie S Chenoweth, Queensland Clinical Genetics Service, Australia
|
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Determinants of familial risk perception of common diseases
Prof Jon Emery, University of Western Australia, Australia
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The UK NHS National Genetics Education and Development Centre: principles and challenges
Peter A Farndon, NHS National Genetics Education and Development Centre, United Kingdom
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Communicating genetic information to family members- what families have to say?
Ms Laura E Forrest, Genetic Education and Health Research, Murdoch Childrens Research Institute, Australia
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Evaluation of multimedia genetic education resources in Australian secondary schools
Ms Amy E Nisselle, Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, Australia
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Rapid genotyping of R577X and Q523R polymorphisms of Actinin alpha 3 gene, in the Italian population and elite endurance athletes by real time pcr
Andrea Paparini, Department of Health Sciences - IUSM, Italy
|
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The development of an electronic Family History Tool for Australian general practice
Ms Gabrielle T Reid, The University of Western Australia, Australia
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Challenges of Non-Disclosure
Jennifer Schulz, Queensland Clinical Genetics Service, Australia
|
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Teaching principles of genetics through SNP analysis
Kim M Summers, The University of Queensland, Australia
|
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Paternally Transmitted Haplotypes of the Imprinted Insulin Gene are Associated with Size for Gestational Age
Ronald M Adkins, University of Tennessee Health Science Center, United States
|
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The genetic basis of age at menarche: heritability and linkage analyses from a large longitudinal study of twin families
Carl A Anderson, University of Edinburgh, United Kingdom
|
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Homozygous R117H CFTR mutation - parental R117H or uniparental disomy or R117del?
Dr Bruce H Bennetts, Children's Hospital at Westmead, NSW Australia, Australia
|
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Trichorhinophalangeal Syndrome, Type III (TRP III): A familiy case report
Nory O Dávalos-Rodríguez, Universidad de Guadalajara, Mexico
|
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Molecular Progression from Retinoma to Retinoblastoma
Helen Dimaras, Ontario Cancer Institute/Princess Margaret Hospital, Canada
|
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Investigation on the polymorphisms of CYP2E1, GSTM1, GSTT1, and GSTP1 genes in a group of patients with esophagitis
Prof Dertia V Freire-Maia, Sao Paulo Federal University (UNIFESP), Brazil
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Screening for deletions in the KLK gene family using small pedigrees
Anna M Johansson, Dept. of Cell and Organism Biology, Lund University, Sweden
|
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Genetic and Archaeological Evidences from South Pacific to Purepechas, Amerindians of Michoacan Mexico
Dr Francisco Loeza, Universidad Michoacana de San Nicolás de Hidalgo, Mexico
|
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Estimation of the cystic fibrosis mutation dF508 frequency in Latvia
Timurs Maculins, RSU, Latvia
|
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Polymorphism of CYP1A1and mEH Genes and Susceptibility to Bladder Cancer in Northern India
Dr Rama Devi Mittal, Sanjay Gandhi Post Graduate Institute of Medical Sciences, India
|
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Development of a densely genotyped population reference sample: a resource for population, disease, and pharmacological genetics research
Dr Matthew R Nelson, GlaxoSmithKline, United States
|
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Strategies for Characterizing Regions of Genetic Association
Dr Matthew R Nelson, GlaxoSmithKline, United States
|
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Study of MEFV mutations in the Iranian population by means of reverse-hybridization teststrips
Christian Oberkanins, ViennaLab Labordiagnostika GmbH, Vienna, Austria
|
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A cohort study of the effects of MTHFR genotypes on bone structure 1214 elderly women
Dr Richard L Prince, University of Western Australia, Australia
|
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Infantile Arterial Calcification: Successful Treatment with Bisphosphonates
Dr Tony Roscioli, Molecular and Clinical Genetics Unit, Royal Prince Alfred Hospital, Sydney, NSW, Australia
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Prevalence of structural haemoglobin variants in malaria endemic states of northeast India
Dr Santanu Kumar Sharma, REGIONAL MEDICAL RESEARCH CENTRE, N.E. REGION (INDIAN COUNCIL OF MEDICAL RESEARCH), DIBRUGARH-786001, ASSAM, India
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NBS1 founder mutation and Darwinian fitness
Karl Sperling, Humboldt University Berlin, Germany
|
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A clarification of the Hardy-Weinberg law
Alan E Stark, Australia
|
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Hospitalisation patterns of people with Prader-Willi syndrome and Angelman syndrome in Western Australia
Ms Allyson K Thomson, Edith Cowan University, Australia
|
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Analysis of Head Circumference, Birth Weight and Birth Length in Japanese triplets
Prof Yoshie Yokoyama, Japan
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The effect of ethnicity on serum marker concentrations and nuchal translucency measurements in first trimester Combined Ultrasound and Biochemical screening for Down’s syndrome
Dr Jennifer A Crossley, Institute of Medical Genetics, United Kingdom
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Detection of microsatellite instability in peripheral blood of a Filipino family with HNPCC
Ma Luisa E Enriquez, Research and Biotechnology Division, St. Luke's Medical Center and College of Science, De La Salle University, Philippines
|
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Consumer contribution to the delivery of Genetic Health Services in Victoria - Measures of satisfaction
Mrs Robin M Forbes, Genetic Health Services Victoria, Australia
|
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DNA repair genes and genetic susceptibility in malignant melanoma patients
Gilka F Gattás, Universidade de Sao Paulo, Brazil
|
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Rapid Pre-screen Mutation Analysis in a UK Diagnostic Laboratory
John F Harvey, Wessex Regional Genetics Laboratory, United Kingdom
|
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The Genetic Testing Quality Control Materials Program (GTQC)-A sustainable community process to improve availability of appropriate, verified quality control (QC) materials for genetic testing
Lisa Kalman, Centers for Disease Control and Prevention, United States
|
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Risk Perception of Developing Inherited Diseases
Drª Ângela M T Leite, Instituto de Biologia Molecular e Celular, Univ. Porto, Portugal, Portugal
|
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Genetics and health care: Perception, knowledge and attitudes of health professionals and mothers about risk factors and prevention of mental retardation
Antonia Paula Marques-de-Faria, Department of Medical Genetics State University of Campinas School of Medicine, Brazil
|
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Developing Recommendations for a Core Curriculum in Genetics in Medicine and Allied Health
Dr Wiji AP Nadesapillai, Genetic Health Services Victoria, 10th Floor, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia
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Population Screening for Cystic Fibrosis and the Ashkenazi Jewish Disorders
Mr Steven Nasioulas, Victorian Clinical Genetics Services, MCRI, Australia
|
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Genetics professionals views of outcome measures for genetics services: A Delphi survey
Dr Katherine Payne, Nowgen & University of Manchester, United Kingdom
|
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Fragile X parental opinions towards a Newborn Screening Programme for Fragile X Syndrome
Carolyn Rogers, GOLD Service, Hunter Genetics, Australia
|
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Profile of a hospital-based genetic counselling service in a developing country (Malaysia) in 1995 and 2005
Dr Meow Keong Thong, Department of Paediatrics, University of Malaya Medical Centre, 59100 Kuala Lumpur, Malaysia, Malaysia
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Mutation detection in Duchenne & Becker Muscular Dystrophy
Corrina Walsh, Molecular & Cytogenetics Unit, South Eastern Area Laboratory Services, The Prince of Wales Hospital, Sydney, NSW, Australia, Australia
|
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Epigenetic alterations in tumor suppressor genes among non-familial breast carcinomas
Azhar B Ali, National University of Singapore, Singapore
|
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The Nomenclature of Human Genes
Elspeth A Bruford, HUGO Gene Nomenclature Committee, United Kingdom
|
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Texas Institute for Genomic Medicine (TIGM): Knocking Out All Murine Genes in Embryonic Stem Cells
Richard H Finnell, Texas Institute for Genomic Medicine, United States
|
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Congenital Disorder of Glycosylation Type 1a in a 6 year-old-girl with a mild intellectual phenotype: 2 novel PMM2 mutations
Dr Matthew Hunter, Royal Childrens Hospital, Brisbane, Australia
|
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Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions
Naomichi Matsumoto, Solution-Oriented Research for Science and Technology (SORST), JST, Kawaguchi, Japan, Japan
|
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Structural characterization and high-throughput genotyping of human intermediate-size structural variation
Tera L Newman, University of Washington, United States
|
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Distribution of human genomic large-scale copy number variants (LCVs) in three ethnic populations
Dr Evica Rajcan-Separovic, Dept. of Pathology , University of British Columbia, Vancouver, Canada
|
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Association of the Vitamin D Receptor Gene with Mulitple Sclerosis
Dr Lotti Tajouri, Genomics Research Centre, School of Health Science, Griffith University Gold Coast, Southport, Queensland, Australia 4215, Australia
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Comparative genomics supports significance of mutations in two models for inherited eye disease, VMD2 and PRCD
Barbara Zangerl, Medical Genetics, University of Pennsylvania, Philadelphia, PA, United States
|
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BioParser: recursive descent parsing of bioinformatics text databases using perl
John V Pearson, Translational Genomics Research Institute, United States
|
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Evaluation Of Oxidative Stress In Treated Phenylketonuric Patients
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
|
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Mucopolysaccharidosis: what does it happen from birth until diagnosis?
Roberto Giugliani, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil
|
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Mice with methylenetetrahydrofolate reductase deficiency and men with hyperhomocysteinemia have reduced expression of Apolipoprotein A-I, the major protein in HDL Cholesterol
Rima Rozen, McGill University, Canada
|
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Molecular Analysis of DIA1 gene in a Thai Female Patient Suspected of Hereditary Methemoglobinemia
Dr Objoon Trachoo, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
|
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Comparison of differential gene expression in peripheral blood lymphocytes among individuals with arsenical skin lesions and selenium-supplemented individuals from a Bangladeshi population chronically exposed to arsenic
Habibul Ahsan, Columbia University, Mailman School of Public Health, United States
|
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Replication of linkage and association of PROP perception to chromosome 7 and suggestion of novel loci on chromosome 6
Jonathan L Hansen, Queensland Institute of Medical Research, Australia
|
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Molecular Genetic Studies On Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chitra Kannabiran, L.V. Prasad Eye Institute, Hyderabad 500 034, India, India
|
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Linkage mapping of a major familial Ménière disease locus to human chromosome 14
Miss Yvonne Lowe, Division of Molecular Genetics, IBLS, University of Glasgow, Glasgow, United Kingdom
|
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A familial duplication of Xp22.2 analysed with high resolution X chromosome specific array-MAPH (Multiplex Amplifiable Probe Hybridization) methodology
Philippos C Patsalis, The Cyprus Institute of Neurology and Genetics, Cyprus
|
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DRD2 TaqI A and COMT val158met Polymorphisms are Associated with Pain Response in Chinese Heroin-dependent Males
Dr Alfreda Stadlin
|
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Genome-Wide Linkage Scan for QTL Influencing Measures of the Pubertal Growth Spurt in Healthy Children from the Fels Longitudinal Study
Bradford Towne, Wright State University School of Medicine, United States
|
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Characterization of the 2p12 dyslexia candidate region
Ms Heidi Anthoni, Dept. of Biosciences at Nutrition, Karolinska Institutet, Sweden
|
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Multivariate Quantitative Trait Analysis in Genome-wide Association: An Application to Gene Expression Phenotypes
Dr David M Evans, Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
|
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Implication of an apoptosis-related pathway in systemic lupus erythematosus (SLE) susceptibility
Anna S Hellquist, Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
|
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Examination of the effect of heterogeneity on the chromosome 10 risk in Late-onset Alzheimer Disease
Xueying Liang, Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University, United States
|
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Seeming difficulties of telomere aging theory are explained by uneven shortening of telomeres in cells of different tissues and organs
Viktor M Mikhelson, Institute of Cytology, Russian Academy of Sciences, Russia
|
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Stroke susceptibility loci in the northern Swedish population
Sofie Nilsson-Ardnor, Sweden
|
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Syntropies as phenome components. Syntropic genes
Valery P Puzyrev, Institute for Medical Genetics, Tomsk Scientific Centre, Russian Academy of Medical Sciences, Russia
|
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Genetic Variation in the Class I Region of the HLA Complex is Associated with Susceptibility to Multiple Sclerosis
Justin P Rubio, The Howard Florey Institute, Australia
|
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The COL12A1 and COL14A1 genes and Achilles tendon injuries
Dr Alison V September, UCT/MRC Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences,, South Africa
|
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Linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate in the Italian population
Paolo Carinci, Department of Histology, Embryology, and Applied Biology; Center of Mol. Genetics, CARISBO Foundation, University of Bologna, Italy
|
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A Tool for Selecting SNPs for Association Studies Based on Observed Linkage Disequilibrium Patterns
Francisco M De La Vega, Applied Biosystems, Foster City, CA, USA, United States
|
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The serotonin transporter gene: haplotype analysis in different psychiatric disorders
Daria Gaysina, Institute of Biochemistry and Genetics, Ufa Scientific Center, RAS, Russia
|
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The HapMap as a tool in candidate gene association studies
Edmund Ling, University of Oxford, United Kingdom
|
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Redefining the null hypothesis for Hardy Weinberg equilibrium
Kelli K Ryckman, Vanderbilt University, United States
|
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Chorea-acanthocytosis (ChAc) in French Canadians: Founder effect and genotype - phenotype correlation
Eva Andermann, Montreal Neurological Hospital and Institute, McGill University, Canada
|
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Evaluation of LMNA as a Candidate Gene for Familial Atrial Fibrillation
Dr Guanglan Guo, Victor Chang Cardiac Research Institute, Australia
|
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Spectrum mutations in the Factor VIII gene among patients with severe, mild and moderate haemophilia A
Prof Jürgen Horst, Institut für Humangenetik, Münster, Germany
|
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Genetic Analysis Of A Family With Granular Corneal Dystrophy
Chitra Kannabiran, L.V. Prasad Eye Institute, Banjara Hills, Hyderabad 500 034., India
|
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Genetic heterogeneity of uromodulin associated kidney diseases
Stanislav Kmoch, Center for Applied Genomics, Institute for Inherited Metabolic Disorders, Prague, Czech Republic
|
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Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
Nigel Laing, University of Western Australia, Australia
|
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Molecular Analysis of Severe Combined Immunodeficiency in Thailand
Miss Yuwarat Monteerarat, Medical Scholar Programme, Department of Immunology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Thailand
|
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Molecular Characterisation of a Novel Case of Friedreich Ataxia
Ms Novita Puspasari, Genetic Health Research (Bruce Lefroy Centre), Murdoch Childrens Research Institute, Parkville, Victoria, Australia
|
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Identification of novel interacting partners of the BBS2 protein supports complex inheritance in Bardet-Biedl syndrome
Dr Alison J Ross, Institute of Child Health, University College London, United Kingdom
|
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Mutation analyses of factor VIII gene using direct sequencing method in severely or moderately affected Korean hemophilia A patients
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
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Mutiple Familial Trichoepithelioma in two brothers with normal parents
Carlos E Steiner, Department of Medical Genetics, Faculty of Medical Sciences, Unicamp, Brazil
|
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A preliminary estimate of the incidence of deleterious BRCA1 and BRCA2 gene mutations in the general population of Ontario, Canada
Dr Sherry AM Taylor, Kingston General Hospital, Canada
|
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A platform for testing systemic treatment protocols
Kaite Honeyman, Experimental Molecular Medicine Group, Centre for Neuromuscular and Neurological Disorders, UWA, Australia
|
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Development of Fluorescence-Based Genomic Reporter Assay for High-Throughput Screening of Potential Fetal Hemoglobin Inducers
Ms Preeyachan Lourthai, Cell and Gene Therapy Group, The Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia., Australia
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Exon skipping in the 4CV mouse model of Muscular Dystrophy
Chalermchai Mitrpant, Experimental molecular medicine group, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australia
|
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Transgenic Genomic Reporter Assays for Functional Studies and Stem Cell Therapy
Dr Joseph P Sarsero, Genetic Health Research (Bruce Lefroy Centre), Murdoch Childrens Research Institute, Parkville, Victoria, Australia
|
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A Novel Cryptic Splice Site in IVSI-110 β-thalassemia
Dr Jim Vadolas, Cell and Gene Therapy Group, The Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia., Australia
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PTC124: a novel therapeutic for the treatment of genetic disorders caused by nonsense mutations
Ellen M Welch, PTC Therapeutics, United States
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Heterozygous Lgl1 knockout mice display delayed maturation of the lung and kidney
Dr Feige Kaplan, Montreal Child. Hosp. Res. Inst. and Department of Human Genetics, McGill University, Canada
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Assessing the role of Cited2 in human congenital heart disease
Ken Maclean, Victor Chang Cardiac Research Institute, Australia
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Tetragametic Chimerism Detected in Healthy Twins
Martin J Somerville, University of Alberta, Canada
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Use of the human and cattle genome sequences to identify novel microsatellite markers within the Major Histocompatibility (MHC) region of Sheep
Hannah M Henry, AgResearch, New Zealand
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Evolutionary History of the Human X Chromosome
Dr Matthew J Wakefield, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3050, Australia
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A proposed framework for genetic screening policy-making that identifies multiple decision nodes according to the development-implementation-evaluation cycle
Dr Anne Andermann, McGill University and Agence d’Évaluation des Technologies et des Modes d’Intervention en Santé, Canada
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Improving Quality Assurance and Quality Control Materials for Rare Disease Genetic Testing
Dr Bin Chen, Centers for Disease Control and Prevention, United States
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SNP variation at the Alcohol Dehydrogenase Gene Cluster in the Maori Population
Mr David A Hall, Institute of Environmental Science and Research, New Zealand
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OXTR polymorphism is associated with reproductive phenotypes in men and women
Ms Zoë M Prichard, Predictive Medicine Group, Australian National University, Australia
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GSTP1 Promoter Methylation in Healthy Women Older than 65 Years
Brissia Lazalde, Faculty of Medicine, Universidad Juárez del Estado de Durango, Mexico
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Different incidence of epigenetic and genetic alterations between Japanese and Caucasian patients with Beckwith-Wiedemann syndrome
Dr Hidenobu Soejima, Saga University Faculty of Medicine, Japan
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Trisomies represent risk factors for further independent non-disjunction events or subsequent complex rearrangements
Alessandra Baumer, Institute of Medical Genetics, University of Zurich, Switzerland
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Visualisation of gene by gene interactions in pharmacogenetics
Mr Clive Bowman, Genetics Resarch, GlaxoSmithKline, Greenford, London, United Kingdom
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Integrated model for the identification of drug targets and biomarkers in the development of new medicines for the treatment of chronic obstructive pulmonary disease (COPD)
Nigel K Spurr, GlaxoSmithKline Pharmaceuticals, United Kingdom
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High frequency of partial SPG4 gene deletions in hereditary spastic paraplegia
Christian Beetz, Institut fuer Klinische Chemie und Laboratoriumsdiagnostik, Friedrich-Schiller-Universität Jena, Germany
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Epilepsy, fetal anticonvulsant syndrome and MTHFR
John C Dean, University of Aberdeen, United Kingdom
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Complete high-density genomic screen for Parkinson’s disease in Tunisia
Lianna S Ishihara, University of Cambridge, United Kingdom
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Cytokine Secretion, Oxidative Damage, Cell Growth and Apoptosis in Lymphoblastoid Cells and Skin Fibroblasts of Patients with MERRF Syndrome and A8344G Point Mutation of Mitochondrial DNA
Chen-Ling Kuo, Vascular and Genomic Center, Changhua Christian Hospital, Changhua, Taiwan, Taiwan
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Linkage and association to chromosome 1q43 in multiple sclerosis
Dr Jacob L McCauley, Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, United States
Dr Jonathan L Haines, Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, United States
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Parkinson’s disease and the meaning of family history
Dr George D Mellick, Princess Alexandra Hospital, Australia
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Genomewide Significant Linkage to Migrainous Headache
Dr Dale R Nyholt, Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Australia, Australia
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Clinical and genetic heterogeneity of recessive ataxia in the Hispanic population
Astrid Rasmussen, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez (INNN), Mexico City, Mexico
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Facial and Vocal Emotion Recognition in Huntington’s Disease
Dr Sheila A Simpson, Clinical Genetics, NHS Grampian, Aberdeen, Scotland, UK, United Kingdom
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No association between MTRR A66G and MTHFR A1298C, and MS in an Australian cohort
Mr Attila L Szvetko, Genomics Research Centre, Griffith University, Gold Coast, Australia
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Non-invasive foetal HLA typing using cell-free DNA.
Dr Richard Allman, Genetic Technologies Ltd, Australia
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Genetic susceptibility to tuberculosis in Japanese: a gene-based analysis
Dr Toshiro Hara, Dept of Pediatrics, Graduate School of Med Sciences, Kyushu University, Japan
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Analysis of MeCP2 protein expression in peripheral blood cells of RTT patients with common recurrent mutations
Alka Saxena, Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Australia
Prof David Ravine, Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Australia
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A genetic basis for cognitive decline after cardiac surgery
Richard W Morris, Duke University Medical Center, United States
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Further evidence that the 9q deletion syndrome phenotype is caused by disruption of a single gene, EHMT1
Dr Michael T Gabbett, Department of Medical Genetics, Sydney Children’s Hospital, Sydney, New South Wales., Australia
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