subject area of

• A comparison of gait patterns between the offspring of people with medial tibiofemoral osteoarthritis and normal controls  Academic Article
• AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome  Academic Article
• Accuracy and implications of a reported family history of glaucoma: Experience from the glaucoma inheritance study in tasmania  Academic Article
• Accuracy of genotype imputation in sheep breeds  Academic Article
• Accuracy of pedigree and genomic predictions of carcass and novel meat quality traits in multi-breed sheep data assessed by cross-validation  Academic Article
• An amino acid substitution in the pyruvate dehydrogenase E1α gene, affecting mitochondrial import of the precursor protein  Academic Article
• Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome  Academic Article
• Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin-Bell syndrome  Academic Article
• Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy  Academic Article
• Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis  Academic Article
• Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X  Academic Article
• Broad Clinical Involvement in a Family Affected by the Fragile X Premutation  Academic Article
• CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia  Academic Article
• Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation  Academic Article
• Compound heterozygous female with fragile X syndrome  Academic Article
• Consequences of Two Different Amino-Acid Substitutions at the Same Codon in KRT14 Indicate Definitive Roles of Structural Distortion in Epidermolysis Bullosa Simplex Pathogenesis  Academic Article
• D21S170 maps to terminal 21q22.3  Academic Article
• DNA commission of the International society for forensic genetics: Assessing the value of forensic biological evidence - Guidelines highlighting the importance of propositions: Part I: evaluation of DNA profiling comparisons given (sub-) source propositions  Academic Article
• Determination of maternal pedigree and ewe–lamb spatial relationships by application of Bluetooth technology in extensive farming systems  Academic Article
• Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data  Academic Article
• Effect of fragile X on physical and intellectual traits estimated by pedigree analysis  Academic Article
• Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis  Academic Article
• Effect of the Deficits of Fragile X Mental Retardation Protein on Cognitive Status of Fragile X Males and Females Assessed by Robust Pedigree Analysis  Academic Article
• Effect of the fragile X anomaly on body proportions estimated by pedigree analysis  Academic Article
• Environment-gene interactions in intestinal cancer  Conference Paper
• Estimation of genomic breeding values for residual feed intake in a multibreed cattle population1  Academic Article
• Evaluation of Accuracy in Proband-Reported Family History and Its Determinants: The Genes in Myopia Family Study  Academic Article
• Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations  Academic Article
• Experience with direct molecular diagnosis of fragile X.  Academic Article
• FRAXE and mental retardation.  Academic Article
• Familial Occurrence of Preeclampsia  Academic Article
• Family and population studies of SAHH and ADA polymorphisms. A possible pitfall in the ascertainment of SAHH electrophoretic phenotypes  Academic Article
• Fatal familial insomnia: a new Austrian family  Academic Article
• Febrile Seizures, Genetic (Generalized) Epilepsy With Febrile Seizures Plus, and Dravet's Syndrome  Academic Article
• Fibroblast phenotype in male carriers of FMR1 premutation alleles  Academic Article
• Fixed and random effects in the variation of the finger ridge count: A study of fragile-X families  Academic Article
• Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy  Academic Article
• Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development  Academic Article
• Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers  Academic Article
• Fragile-X syndrome: Unique genetics of the heritable unstable element  Academic Article
• GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies  Academic Article
• Genetic variation in adenylate kinase 1, glyceraldehyde-3-phosphate dehydrogenase, and glutamic-pyruvate transaminase in the marsupialMonodelphis domestica  Academic Article
• Genome-Enabled Estimates of Additive and Nonadditive Genetic Variances and Prediction of Apple Phenotypes Across Environments  Academic Article
• Genomic prediction of host resistance to sea lice in farmed Atlantic salmon populations  Academic Article
• Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin  Academic Article
• Genotype-phenotype relationships in fragile X syndrome: A family study  Academic Article
• Geno‐Diver: A combined coalescence and forward‐in‐time simulator for populations undergoing selection for complex traits  Academic Article
• Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation  Academic Article
• Growth in stature in fragile X families: A mixed longitudinal study  Academic Article
• High-Risk Fragile X Screening in Guatemala: Use of a New Blood Spot Polymerase Chain Reaction Technique  Academic Article
• Identification of genomic regions associated with inbreeding depression in Holstein and Jersey dairy cattle  Academic Article
• Inbreeding in genome-wide selection  Academic Article
• Invited review: Inbreeding in the genomics era: Inbreeding, inbreeding depression, and management of genomic variability  Academic Article
• Linkage Replication of theMYP12Locus in Common Myopia  Academic Article
• Management of Familial Aortic Dissection  Academic Article
• Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency  Academic Article
• Methodology and Recruitment of Probands and Their Families for the Genes in Myopia (GEM) Study  Academic Article
• Methylation and expression of a metallothionein promoter ovine growth hormone fusion gene (MToGH1) in transgenic mice  Academic Article
• Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan  Academic Article
• Molecular markers and their use in animal breeding  Academic Article
• Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers  Academic Article
• Newborn screening and cascade testing forFMR1mutations  Academic Article
• Novel strategies to minimize progeny inbreeding while maximizing genetic gain using genomic information  Academic Article
• Penetrance of the Fragile X–Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population  Academic Article
• Phenotypic variation and FMRP levels in fragile X  Academic Article
• Phenotypic variation in male-transmitted fragile X: Genetic inferences  Academic Article
• Prevalence and independent predictors of insulin resistance in children from Crete, Greece: The Children Study  Academic Article
• Prevalence, heritability and significance of musculoskeletal conformational traits in Thoroughbred yearlings  Academic Article
• Problems in ascertainment of transmitting males in Martin-Bell syndrome  Academic Article
• Profiles of executive function in parents and siblings of individuals with autism spectrum disorders  Academic Article
• Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species  Academic Article
• Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria  Academic Article
• Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?  Academic Article
• The importance of information on relatives for the prediction of genomic breeding values and the implications for the makeup of reference data sets in livestock breeding schemes  Academic Article
• The problem of overlapping glaucoma families in the Glaucoma Inheritance Study in Tasmania (GIST)  Academic Article
• The ‘GIST’ score: ranking glaucoma for genetic studies  Academic Article
• Tonography Demonstrates Reduced Facility of Outflow of Aqueous Humor in Myocilin Mutation Carriers  Conference Paper
• Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions  Academic Article
• Use of robust statistical methods to determine the effect of fragile X on means and variance components of a quantitative trait  Academic Article
• “Reduction” of CGG trinucleotide expansion from mother to offspring in seven fragile-X families  Academic Article