subject area of

• 2 Y-CHROMOSOME-SPECIFIC RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS (DYS11 AND DYZ8) IN ITALIAN AND GREEK MIGRANTS TO AUSTRALIA  Academic Article
• A Multivariate genome scan for finger ridge count  Conference Paper
• A Role for MSH2 in the CGG Repeat Expansion  Other Publication
• A Search for Genes from the Dark Band Regions of Human Chromosome 21  Academic Article
• A branching non-linear autoregressive model for the transmission of the fragile X dynamic repeat mutation  Academic Article
• A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatablemRNA  Academic Article
• A compound heterozygous female with fragile X syndrome.  Conference Paper
• A eutherian X-linked gene, PDHA1, is autosomal in marsupials:A model for the evolution of a second, testis-specific variant in eutherian mammals  Academic Article
• A family with two female siblings with compound heterozygousFMR1premutation alleles  Academic Article
• A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium  Academic Article
• A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome  Academic Article
• A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes  Academic Article
• A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA  Academic Article
• A mouse model of cardiac rhabdomyoma generated by loss of Tsc1 in ventricular myocytes  Academic Article
• A new look at the evolution of avian sex chromosomes  Academic Article
• A population-based study of copy number variants and regions of homozygosity in healthy Swedish individuals  Academic Article
• A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis  Academic Article
• A rapid and reliable PCR method for genotyping the ABO blood group  Academic Article
• A rapid and reliable PCR method for genotyping the ABO blood group. II: A2 and O2 alleles  Academic Article
• A second-generation anchored genetic linkage map of the tammar wallaby (Macropus eugenii)  Academic Article
• AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome  Academic Article
• ASSIGNMENTS TO THE X-CHROMOSOME OF DASYURID MARSUPIALS  Academic Article
• AUTOSOMAL ASSIGNMENT OF OTC IN MARSUPIALS AND MONOTREMES - IMPLICATIONS FOR THE EVOLUTION OF SEX-CHROMOSOMES  Academic Article
• AUTOSOMAL LOCALIZATION OF THE AMELOGENIN GENE IN MONOTREMES AND MARSUPIALS - IMPLICATIONS FOR MAMMALIAN SEX-CHROMOSOME EVOLUTION  Academic Article
• Abstracts for the Genes for Health Meeting, incorporating the Inaugural GRaPH-Int Conference and the 33rd HGSA Annual Scientific Meeting  Conference Poster
• Adaptive functioning and molecular relationships in individuals with fragile X syndrome.  Conference Paper
• Alleles and Haplotypes of Tumor Necrosis Factor (TNF) Alpha and Beta Genes in Three Ethnic Populations of Sulawesi, Indonesia  Academic Article
• American Journal of Human Genetics  Journal
• An RBMX-like gene selectively expressed in testis and located at 9p24.  Academic Article
• An amino acid substitution in the pyruvate dehydrogenase E1α gene, affecting mitochondrial import of the precursor protein  Academic Article
• An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals  Academic Article
• Analysis of chromosome 21 yeast artificial chromosome (YAC) clones  Academic Article
• Analysis of the genomic region containing the tammar wallaby (Macropus eugenii) orthologues of MHC class III genes  Academic Article
• Annals of Human Genetics  Journal
• Annual Review of Genomics and Human Genetics  Journal
• Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD)  Academic Article
• Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin-Bell syndrome  Academic Article
• Assessment of genetic variation within a global collection of lentil (Lens culinaris Medik.) cultivars and landraces using SNP markers  Academic Article
• Assignment of SOX1 to platypus chromosome 20q by fluorescence in situ hybridization  Academic Article
• Assignment of the DMRT1 gene to tammar wallaby chromosome 3p by fluorescence in situ hybridization  Academic Article
• Assignment of the eukaryotic translation initiation factor (EIF2S3) to tammar wallaby chromosome 5p by in situ hybridization  Academic Article
• Assignment of the glucose-6-phosphate dehydrogenase (G6PD) gene to tammar wallaby chromosome Xq by fluorescence in situ hybridization with a BAC clone  Academic Article
• Assignment of the protocadherin 20 (PCDH20) gene to tammar wallaby chromosome 6q by fluorescence in situ hybridisation  Academic Article
• Assignment of the thymosin beta 4 X/Y chromosome (TMSB4X/Y) gene to tammar wallaby chromosome 5p by fluorescence in situ hybridisation  Academic Article
• Assignment¹ of SPROUTY 1 (SPRY1) gene to tammar wallaby chromosome 6 by fluorescence in situ hybridisation  Academic Article
• Assignment¹ of the SMARCF1 gene to tammar wallaby chromosome 5q by fluorescence in situ hybridisation  Conference Paper
• Assignment¹ of the proteolipid protein 1 gene (PLP1) to tammar wallaby chromosome Xq by fluorescence in situ hybridization with a BAC clone  Academic Article
• Association between TNF-α −308G>A polymorphism and the development of acute coronary syndromes in Greek subjects: The CARDIO2000-GENE Study  Academic Article
• Association between obesity and insulin resistance with UCP2–UCP3 gene variants in Spanish children and adolescents  Academic Article
• Association of Nrf2-encoding NFE2L2 haplotypes with Parkinson's disease  Academic Article
• Association of TMEM18 variants with BMI and waist circumference in children and correlation of mRNA expression in the PFC with body weight in rats  Academic Article
• Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis  Academic Article
• Autoimmune disease in mothers with the FMR1 premutation is associated with seizures in their children with fragile X syndrome  Academic Article
• Autosomal localization of the amelogenin gene in monotremes and marsupials: Implications for mammalian sex chromosome evolution  Academic Article
• B Cells and Antibody Production in Melanoma  Academic Article
• BMC Genetics  Journal
• BMC Medical Genetics  Journal
• BMC Medical Genomics  Journal
• Bacterial genomic G+C composition-eliciting environmental adaptation  Academic Article
• Behavior Genetics: an international journal devoted to research in the inheritance of behavior in animals and man  Journal
• Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X  Academic Article
• Biogenesis of mitochondria 48  Academic Article
• Biogenesis of mitochondria 51  Academic Article
• Birth Defects Research Part A: Clinical and Molecular Teratology  Journal
• C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1  Academic Article
• C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking  Erratum
• C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking  Academic Article
• CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization  Academic Article
• CGG allele size somatic mosaicism and methylation inFMR1premutation alleles  Academic Article
• CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS  Academic Article
• CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size  Academic Article
• COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2  Academic Article
• CONSERVATION OF SYNTENY BETWEEN PLATYPUS AND MAN  Academic Article
• CSF2RA, ANT3, and STS are autosomal in marsupials: implications for the origin of the pseudoautosomal region of mammalian sex chromosomes  Academic Article
• Carrier detection in ornithine transcarbamylase deficiency  Academic Article
• Cerebellar tremor and cerebellar cortical atrophy in older males with the fragile X premutation.  Conference Paper
• Characterization of a KRAB Family Zinc Finger Gene,ZNF195,Mapping to Chromosome Band 11p15.5  Academic Article
• Characterization of a Novel Human Cell-Cycle-Regulated Homologue of Drosophila dlg1  Academic Article
• Characterization of a progressive neurological condition in older adult male carriers of the fragile X premutation.  Conference Paper
• Characterization of two whey protein genes in the Australian dasyurid marsupial, the stripe-faced dunnart (Sminthopsis macroura)  Academic Article
• Cholesteryl Ester-Transfer Protein (CETP) Polymorphism and the Association of Acute Coronary Syndromes by Obesity Status in Greek Subjects: The CARDIO2000-GENE Study  Academic Article
• Chromosomal localization of the gene for late lactation protein (LLP) in the tammar wallaby (Macropus eugenii)  Academic Article
• Chromosome heterozygosity and de novo chromosome rearrangements in mammalian interspecies hybrids  Academic Article
• Class I genes have split from the MHC in the tammar wallaby  Academic Article
• Clinical Genetics: an international journal of genetics and molecular medicine  Journal
• Clinical and molecular correlations in individuals with a fragile X full mutation.  Conference Paper
• Clinical features and reproductive patterns in fragile X female heterozygotes.  Academic Article
• Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome  Academic Article
• Cloning and mapping of platypus SOX2 and SOX14: Insights into SOX group B evolution  Academic Article
• Cloning, expression, and promoter structure of a mammalian Inner Centromere Protein (INCENP)  Academic Article
• Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone  Academic Article
• Comparative Biochemistry and Physiology Part D: Genomics and Proteomics  Journal
• Comparative Genome Organization of Vertebrates  Academic Article
• Comparative Mapping Identifies the Fusion Point of an Ancient Mammalian X-Autosomal Rearrangement  Academic Article
• Comparative and functional analyses of LYL1 loci establish marsupial sequences as a model for phylogenetic footprinting☆ ☆Sequence data from this article have been deposited with the DDBJ/EMBL/GenBank Data Libraries under Accession No. AL731834.  Academic Article
• Comparative chromosome painting between two marsupials: origins of an XX/XY1Y2 sex chromosome system  Academic Article
• Comparative gene mapping workshop: progress in agriculturally important animals  Academic Article
• Comparative maps of vertebrates  Academic Article
• Congenital Anomalies  Journal
• Conservation of a chromosome arm in two distantly related marsupial species  Academic Article
• Construction of a 2.5-Mb Integrated Physical and Gene Map of Distal 21q22.3  Academic Article
• Copy number polymorphisms in new HapMap III and Singapore populations  Academic Article
• Correlations between DNA, FMRP, and mRNA levels and ADOS-G and ADI-R scores in patients with Fragile X Syndrome.  Conference Paper
• Cross-species chromosome painting between human and marsupial directly demonstrates the ancient region of the mammalian X  Academic Article
• Cytogenetic and Genome Research  Journal
• Cytology and genetics of marsupials and monotremes - the value of weird mammals  Conference Paper
• DMRT gene cluster analysis in the platypus: New insights into genomic organization and regulatory regions  Academic Article
• DMRT1 in a ratite bird: evidence for a role in sex determination and discovery of a putative regulatory element  Academic Article
• DNA Polymorphisms of the Cholesteryl Ester Transfer Protein (CETP) Gene in Italian and Greek Migrants to Australia  Academic Article
• DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides  Academic Article
• De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation  Academic Article
• De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity  Academic Article
• Defective chromosome segregation, microtubule bundling and nuclear bridging in inner centromere protein gene (Incenp)-disrupted mice  Academic Article
• Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis  Erratum
• Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis  Academic Article
• Deletion polymorphism in the human COL1A2 gene: Genetic evidence of a non-African population whose descendants spread to all continents  Academic Article
• Deletions in the prion protein gene are not associated with CJD  Academic Article
• Dermatoglyphic Studies in the Parents of Trisomy 21 Children  Academic Article
• Dermatoglyphic findings in fragile X syndrome: a causal hypothesis points to X-Y interchange  Academic Article
• Dermatoglyphic patterns and clinical diagnosis by discriminant function  Academic Article
• Dermatoglyphic sole patterns. a new attempt at classification.  Academic Article
• Dietary fat quality impacts genome-wide DNA methylation patterns in a cross-sectional study of Greek preadolescents  Academic Article
• Differential increases of specificFMR1mRNA isoforms in premutation carriers  Academic Article
• Dinucleotide repeat polymorphism at the D21S65 locus  Academic Article
• Discriminant analysis of dermatoglyphic measurements in fragile X males and females  Academic Article
• Discriminant functions and 21-trisomy mosaicism  Academic Article
• Distribution of the 3' VNTR polymorphism in the human dopamine transporter gene in world populations  Academic Article
• Driving Abilities in Frontotemporal Dementia Patients  Academic Article
• ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis  Academic Article
• ESTIMATION OF THE EFFECTS OF FRAGILE-X ON DISTRIBUTIONS OF PHYSICAL AND INTELLECTUAL MEASURES USING A MAXIMUM-LIKELIHOOD SCORING TECHNIQUE  Academic Article
• EVOLUTION OF THE MAMMALIAN Y-CHROMOSOME  Conference Paper
• Effect of prennutation in the FMR1 gene on cognitive and physical phenotype in fragile X assessed by pedigree analysis.  Conference Paper
• Effect of the fragile X anomaly on body proportions estimated by pedigree analysis  Academic Article
• Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome  Academic Article
• Elevation in the Ratio of Cu/Zn-Superoxide Dismutase to Glutathione Peroxidase Activity Induces Features of Cellular Senescence and This Effect Is Mediated by Hydrogen Peroxide  Academic Article
• Erratum  Academic Article
• Erratum: A rapid and reliable PCR method for genotyping the ABO blood group (Human Mutation (1993) 2 (67-70))  Academic Article
• Erratum: Regions of homozygosity in three Southeast Asian populations  Erratum
• European Journal of Human Genetics  Journal
• European Journal of Medical Genetics  Journal
• Evidence for skewed X chromosome inactivation in females with the fragile X full mutation  Conference Paper
• Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism  Academic Article
• Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond  Academic Article
• Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond  Academic Article
• Evolution of Genomic Imprinting: Insights from Marsupials and Monotremes  Book
• Evolution of mammalian HNRPG and its relationship with the putative azoospermia factor RBM  Academic Article
• Evolution of the human X – a smart and sexy chromosome that controls speciation and development  Academic Article
• Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring  Academic Article
• Experience with direct molecular diagnosis of fragile X.  Academic Article
• Expression and conservation of processed copies of the RBMX gene  Academic Article
• Expression of the FMR1 gene  Academic Article
• Expression profiling reveals involvement of the GABA(A) receptor subunit delta in the fragile X syndrome.  Conference Paper
• FMR1 alleles in Tasmania: a screening study of the special educational needs population  Academic Article
• FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.  Academic Article
• FMR1 mRNA expression levels in fragile X.  Conference Paper
• FMRP expression as a potential prognostic indicator in fragile X syndrome.  Conference Paper
• FMRP, FMR1-mRNA, and psychopathology correlations in women with the fragile X premutation.  Conference Paper
• FRAXE and mental retardation.  Academic Article
• FTO genotype and adiposity in children: physical activity levels influence the effect of the risk genotype in adolescent males  Academic Article
• FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile  Other Publication
• Family and population studies of SAHH and ADA polymorphisms. A possible pitfall in the ascertainment of SAHH electrophoretic phenotypes  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 Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates  Academic Article
• Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene  Academic Article
• Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers  Academic Article
• Fragile X-associated tremor/ataxia syndrome (FXTAS) involvement in females  Conference Paper
• Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study  Academic Article
• Fragile-X syndrome: Unique genetics of the heritable unstable element  Academic Article
• Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation  Academic Article
• Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations  Academic Article
• Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation  Academic Article
• GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies  Academic Article
• GENOTYPE-PHENOTYPE RELATIONSHIPS IN FRAGILE-X - A FAMILY STUDY  Academic Article
• Gene dosage in the evolution and function of mammalian sex chromosomes  Academic Article
• Gene mapping in marsupials and monotremes  Academic Article
• Gene mapping in marsupials and monotremes  Academic Article
• Gene mapping in marsupials and monotremes  Academic Article
• Gene mapping in marsupials: Detection of an ancient autosomal gene cluster  Academic Article
• Gene-associated single nucleotide polymorphism discovery in perennial ryegrass (Lolium perenne L.)  Academic Article
• Gene-environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection  Academic Article
• Genes on the short arm of the human X chromosome are not shared with the marsupial X  Academic Article
• Genetic Diversity among Selected Ethnic Subpopulations of Australia: Evidence from Three Highly Polymorphic DNA Loci  Academic Article
• Genetic Testing and Molecular Biomarkers  Journal
• Genetic and Environmental Factors in Invasive Cervical Cancer: Design and Methods of a Classical Twin Study  Academic Article
• Genetic associations of Nrf2-encoding NFE2L2 variants with Parkinson’s disease – a multicenter study  Academic Article
• Genetic cluster of fragile X syndrome in a Colombian district  Academic Article
• Genetic dissection of MHC-associated susceptibility to Lepeophtheirus salmonis in Atlantic salmon  Academic Article
• Genetic modification of asexual Epichloë endophytes with the perA gene for peramine biosynthesis  Academic Article
• Genetic modulation of TLR8 response following bacterial phagocytosis  Academic Article
• Genetic polymorphism of angiotensin converting enzyme and angiotensin II type 1 receptors and their impact on the outcome of acute coronary syndrome  Academic Article
• Genetical Distance and Dermatoglyphic Characters  Academic Article
• Genetical Distance and Dermatoglyphic Characters  Academic Article
• Genetical Distance and Dermatoglyphic Characters  Academic Article
• Genetical studies of sole and palmar dermatoglyphics  Academic Article
• Genetical studies of the palmar and sole patterns and some derrnatoǵlyphic measurements in twins  Academic Article
• Genetics and Molecular Biology  Journal
• Genetics in Medicine  Journal
• Genetics of dermatoglyphic patterns on palms  Academic Article
• Genome wide analysis reveals association of a FTO gene variant with epigenetic changes  Academic Article
• Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans  Academic Article
• Genomic copy number variations in three Southeast Asian populations  Academic Article
• Genomics  Journal
• Genotype-phenotype relationships in fragile X syndrome: A family study  Academic Article
• Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome  Academic Article
• Global increases in both common and rare copy number load associated with autism  Academic Article
• HETEROGENEITY OF THE MOLECULAR DEFECT IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY  Academic Article
• HSP72 Modulates Pathways of Stress-Induced Apoptosis : Session9 : MEDICAL ONCOLOGY AND APOPTOSIS  Academic Article
• HUMAN CHROMOSOME-21 GENES MAP IN 2 CONSERVED AUTOSOMAL CLUSTERS IN MARSUPIALS AND MONOTREMES  Academic Article
• Hand locomotor functions, body structure, and epidermal ridge patterns: Preliminary study  Academic Article
• Haplotype Study of Intermediate-Length Alleles at the Fragile X (FMR1) Gene: ATL1, FMRB, and Microsatellite Haplotypes Differ from Those Found in Common-Size FMR1 Alleles  Academic Article
• Hepatitis associated antigen and the ABO locus in Down's syndrome  Academic Article
• Heritability and shared environment estimates for myopia and associated ocular biometric traits: the Genes in Myopia (GEM) family study  Academic Article
• High throughput whole rumen metagenome profiling using untargeted massively parallel sequencing  Academic Article
• High-Risk Fragile X Screening in Guatemala: Use of a New Blood Spot Polymerase Chain Reaction Technique  Academic Article
• High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses  Academic Article
• Highly polymorphic repeat marker within the ?-amyloid precursor protein gene  Academic Article
• Human Biology (Detroit): the international journal of population biology and genetics  Journal
• Human Genetics  Journal
• Human Heredity: international journal of human and medical genetics  Journal
• Human Molecular Genetics  Journal
• Human Mutation  Journal
• Identical premutation size in multiple tissues of a male fragile X carrier.  Conference Paper
• Identification of Expanded Alleles of the FMR1 Gene Among High-Risk Population in Indonesia by Using Blood Spot Screening  Academic Article
• Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression  Academic Article
• Identification of a marsupial OTF1 gene: Cross-species STS analysis and in situ cross-hybridization to Macropus eugenii chromosomes 3/4 and 5  Academic Article
• Identification of homologous, homoeologous and paralogous sequence variants in an outbreeding allopolyploid species based on comparison with progenitor taxa  Academic Article
• Identification of well-differentiated gene expressions between Han Chinese and Japanese using genome-wide microarray data analysis  Academic Article
• Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean  Academic Article
• Immunological evidence for a carbamylphosphate synthetase lesion resulting in the formation of enzyme with altered sub-unit size  Academic Article
• Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits  Academic Article
• Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder  Academic Article
• Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells  Academic Article
• Inheritance of chromosomal length polymorphisms in the ascomycete Leptosphaeria maculans  Academic Article
• Intergeneric somatic hybridization in Gramineae: somatic hybrid plants between tall fescue (Festuca arundinacea Schreb.) and Italian ryegrass (Lolium multiflorum Lam.)  Academic Article
• Intranuclear inclusions in fragile X-associated tremor/ataxia syndrome neuronal cells from five premutation carriers.  Conference Paper
• Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome  Academic Article
• Intranuclear neuronal inclusions in two female carriers of the fragile X premutation  Conference Paper
• Intratumoral genetic heterogeneity in metastatic melanoma is accompanied by variation in malignant behaviors  Academic Article
• Introduction to Mammalian Genome special issue: inflammation and immunity in cancer  Editorial Article
• Investigation of a birth defect cluster [abstract]  Abstract
• Isolation of chromosomal regions controlling intersex development in a marsupial  Conference Paper
• Journal of Human Genetics  Journal
• Journal of Inherited Metabolic Disease  Journal
• Journal of Medical Genetics  Journal
• LOCALIZATION OF AUTOSOMAL GENE HOMOLOGS IN THE MONOTREME MAMMAL ORNITHORHYNCHUS-ANATINUS (THE PLATYPUS)  Academic Article
• LOCALIZATION OF HUMAN X-LINKED GENES IN THE MARSUPIALS AND MONOTREMES  Academic Article
• Limitations of the Mycobacterium tuberculosis reference genome H37Rv in the detection of virulence-related loci  Academic Article
• Linkage mapping and physical localization of the major histocompatibility complex region of the marsupial Monodelphis domestica  Academic Article
• Localization of four human chromosome 21 genes—SOD1, ETS2, IFNAR, and CBR—to two different chromosomes in the marsupial species Macropus eugenii  Academic Article
• Localization of the Gene Encoding the Human Heat Shock Cognate Protein, HSP73, to Chromosome 11  Academic Article
• Localization of the human growth arrest-specific gene ( GAS1 ) to chromosome bands 9q21.3-q22, a region frequently deleted in myeloid malignancies  Academic Article
• Locked nucleic acids in PCR primers increase sensitivity and performance  Academic Article
• Loss of heterozygosity in a gene coding for a thyroid hormone receptor in lung cancers  Academic Article
• Low-coverage MiSeq next generation sequencing reveals the mitochondrial genome of the Eastern Rock Lobster, Sagmariasus verreauxi  Academic Article
• MALE SEX DETERMINATION WITHOUT SRY IN A MOLE PROVIDES DETAILS FOR MAMMALIAN SEX DETERMINATION  Academic Article
• MAPPING AN ANCIENT X-AUTOSOME FUSION POINT IN THE HUMAN-X  Academic Article
• MAPPING HUMAN X-LINKED GENES IN THE PHALANGERID MARSUPIAL TRICHOSURUS-VULPECULA  Academic Article
• MAPPING OF GENES SYNTENIC TO THYMIDINE KINASE ON CHINESE-HAMSTER CHROMOSOME-7 BY RADIATION-INDUCED GENE SEGREGATION  Conference Paper
• MN blood group affects response of serum LDL cholesterol level to a low fat diet  Academic Article
• MONOTREME SEX-CHROMOSOMES - AN INTERMEDIATE STAGE OF SEX-CHROMOSOME EVOLUTION  Academic Article
• Mammalian Genome  Journal
• Mapping human X-linked genes in the phalangerid marsupial Trichosurus vulpecula  Academic Article
• Mapping platypus SOX genes; autosomal location of SOX9 excludes it from sex determining role  Academic Article
• Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR  Academic Article
• Marsupials in the Age of Genomics  Academic Article
• Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening  Academic Article
• Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error  Academic Article
• Meta-analysis on the effect of the N363S polymorphism of the glucocorticoid receptor gene (GRL) on human obesity  Academic Article
• Metformin as targeted treatment in fragile X syndrome  Academic Article
• Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome  Academic Article
• Methylation analysis of the promoter region in fragile X males with hypermethylated, full mutation alleles  Conference Paper
• Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio  Academic Article
• Methylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylation  Academic Article
• MicroRNA-22 is induced by vitamin D and contributes to its antiproliferative, antimigratory and gene regulatory effects in colon cancer cells  Academic Article
• Mitochondrial DNA  Journal
• Mitochondrial DNA diversity of present-day Aboriginal Australians and implications for human evolution in Oceania  Academic Article
• Molecular Genetics and Genomics: an international journal  Journal
• Molecular Genetics and Metabolism  Journal
• Molecular analysis of two cytochrome P450 monooxygenase genes required for paxilline biosynthesis in Penicillium paxilli , and effects of paxilline intermediates on mammalian maxi-K ion channels  Academic Article
• Molecular and Cytogenetic Characterization of a Chinese Hamster/Human Hybrid Cell Line Containing a der (21)t(Ypter→cenY::cen21 → 21qter) Chromosome  Academic Article
• Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration  Academic Article
• Mutations of the mitochondrial DNA of Saccharomyces cerevisiae which affect the interaction between mitochondrial ribosomes and the inner mitochondrial membrane  Academic Article
• N-acetylcysteine modulates glutamatergic dysfunction and depressive behavior in Huntington's disease  Academic Article
• Neural progenitor cells from an adult patient with fragile X syndrome  Academic Article
• Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome  Conference Paper
• Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening  Academic Article
• Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers  Conference Paper
• Neuronal intranuclear inclusions in a tremor/ataxia syndrome among fragile X premutation carriers.  Conference Paper
• Neuropathology and neurodegenerative features in some older male premutation carriers of fragile X syndrome.  Conference Paper
• New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease  Academic Article
• Non-Homologous Sex Chromosomes in Two Geckos (Gekkonidae: Gekkota) with Female Heterogamety  Academic Article
• Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study  Academic Article
• Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: Initial results from a California family-based study.  Conference Paper
• Perspective: cancer vaccines in the era of immune checkpoint blockade  Academic Article
• Phosphoglycerate kinase pseudogenes in the tammar wallaby and other macropodid marsupials  Academic Article
• Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43  Academic Article
• Physical mapping of T cell receptor loci (TRA@, TRB@, TRD@ and TRG@) in the opossum (Monodelphis domestica)  Academic Article
• Physical mapping¹ of immunoglobulin loci IGH@, IGK@, and IGL@ in the opossum (Monodelphis domestica)  Academic Article
• Plectin Transcript Diversity: Identification and Tissue Distribution of Variants with Distinct First Coding Exons and Rodless Isoforms  Academic Article
• Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase  Academic Article
• Polymorphisms of the gene coding for the cholesteryl ester transfer protein and plasma lipid levels in Italian and Greek migrants to Australia  Academic Article
• Population Genetics of Blood Group Polymorphisms in a Sample of Newborns from Melbourne, Australia  Academic Article
• Positive selection on mitochondria M7 lineages among the Gelong people in Hainan  Academic Article
• Prevalence and risk of migraine headaches in adult fragile X premutation carriers  Academic Article
• Protein synthesis levels are increased in a subset of individuals with fragile X syndrome  Erratum
• Protein synthesis levels are increased in a subset of individuals with fragile X syndrome  Academic Article
• Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion  Academic Article
• Public Health Genomics  Journal
• Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries  Academic Article
• Quantitative Trait Locus (QTL) meta-analysis and comparative genomics for candidate gene prediction in perennial ryegrass (Lolium perenne L.)  Academic Article
• RAD21 Mutations Cause a Human Cohesinopathy  Academic Article
• RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements  Other Publication
• RGD inhibition of itgb1 ameliorates laminin-a2 deficient zebrafish fibre pathology.  Academic Article
• Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting  Academic Article
• Reassignment of chicken W chromosome sequences to the Z chromosome by fluorescence in situ hybridization (FISH)  Academic Article
• Recruitment of old genes to new functions: evidences obtained by comparing the orthologues of human XLMR genes in mouse and chicken  Academic Article
• Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element  Academic Article
• Refractive Errors in Twin Studies  Academic Article
• Regions of homozygosity in three Southeast Asian populations  Academic Article
• Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty  Academic Article
• Report of the Second International Workshop on Human Y Chromosome Mapping 1995  Academic Article
• Report of the committee on comparative  Academic Article
• Report of the committee on comparative gene mapping  Conference Paper
• Report of the committee on comparative mapping  Academic Article
• Report of the committee on comparative mapping  Academic Article
• Report of the committee on comparative mapping  Academic Article
• Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12  Academic Article
• Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements  Erratum
• Reversal and convergence in marsupial chromosome evolution  Academic Article
• SNP discovery, validation, haplotype structure and linkage disequilibrium in full-length herbage nutritive quality genes of perennial ryegrass (Lolium perenne L.)  Academic Article
• STEROID SULFATASE IS NOT DETECTED ON THE X-CHROMOSOME OF AUSTRALIAN MARSUPIALS  Academic Article
• Search of heterozygosis in quantitative characters  Academic Article
• Sequence Conservation of therad21 Schizosaccharomyces pombeDNA Double-Strand Break Repair Gene in Human and Mouse  Academic Article
• Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing  Academic Article
• Sequences Homologous to the Human X- and Y-Borne Zinc Finger Protein Genes (ZFX/Y) Are Autosomal in Monotreme Mammals  Academic Article
• Sequencing and mapping hemoglobin gene clusters in the Australian model dasyurid marsupial Sminthopsis macroura  Academic Article
• Serum ?2-glycoprotein 1 phenotype frequencies in an English population  Academic Article
• Serum and tissue proteins in tuberous sclerosis  Academic Article
• Serum and tissue proteins in tuberous sclerosis - I. Serum and red-cell polymorphic systems  Academic Article
• Serum polymorphisms in Down's syndrome  Academic Article
• Seven genes on the short arm of human chromosome 3 map to two regions on Macropus eugenii (tammar wallaby) chromosome 2  Academic Article
• Severely reduced recombination in females of the South American marsupial Monodelphis domestica  Academic Article
• Sex Chromosome Evolution in Lizards: Independent Origins and Rapid Transitions  Academic Article
• Sex and death in birds: A model of dosage compensation that predicts lethality of sex chromosome aneuploids  Conference Paper
• Sex chromosomes and sex determination in weird mammals  Academic Article
• Shared synteny between human chromosome 10 and chromosome 1 of the marsupial tammar wallaby, Macropus eugenii  Academic Article
• Simplified formulas for detecting linkage with a quantitative character  Academic Article
• Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism  Academic Article
• Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?  Academic Article
• Statistical analysis of in situ hybridization data: Derivation and use of the Zmax test  Academic Article
• Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y  Academic Article
• THE POTENTIAL OF ISONYMY IN PSYCHIATRIC GENETICS  Academic Article
• Targeted imputation of sequence variants and gene expression profiling identifies twelve candidate genes associated with lactation volume, composition and calving interval in dairy cattle  Academic Article
• The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter  Academic Article
• The 27Glu polymorphism of the β2-adrenergic receptor gene interacts with physical activity influencing obesity risk among female subjects  Academic Article
• The Alkaline Phosphatase Activity of Mature Granulocytes in Down’s Syndrome  Academic Article
• The Ancient Source of a Distinct Gene Family Encoding Proteins Featuring RING and C3H Zinc-Finger Motifs with Abundant Expression in Developing Brain and Nervous System  Academic Article
• The Australian Barrineans and Their Relationship to Southeast Asian Negritos: An Investigation using Mitochondrial Genomics  Academic Article
• The Candidate Sex-ReversingDAX1Gene Is Autosomal in Marsupials: Implications for the Evolution of Sex Determination in Mammals  Academic Article
• The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis  Academic Article
• The Dawn of Human Matrilineal Diversity  Academic Article
• The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations  Academic Article
• The Ets transcription factor ELF5 functions as a tumor suppressor in the kidney  Academic Article
• The Evolution of Marsupial and Monotreme Chromosomes  Academic Article
• The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome  Academic Article
• The First Cytogenetic Map of the Tuatara, Sphenodon punctatus  Academic Article
• The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily  Academic Article
• The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies  Academic Article
• The Implications of Genetic Susceptibility for the Prevention of Colorectal Cancer: A Qualitative Study of Older Adults’ Understanding  Academic Article
• The MAP2K5-linked SNP rs2241423 is associated with BMI and obesity in two cohorts of Swedish and Greek children  Academic Article
• The Natural History of Drosophila ehrmanae  Academic Article
• The Peri/Postnatal Epigenetic Twins Study (PETS)  Academic Article
• The Roles of Genetic and Environmental Factors on Risk of Cervical Cancer: A Review of Classical Twin Studies  Academic Article
• The X chromosome of marsupials shares a highly conserved region with eutherians  Academic Article
• The dicentric chromosome dic(20;22) is a recurrent abnormality in myelodysplastic syndromes and is a product of telomere fusion  Academic Article
• The discovery of human genetic variations and their use as disease markers: past, present and future  Academic Article
• The effects of parental age on some phenotype frequencies in Down's syndrome  Academic Article
• The evolution of human chromosome 21: Evidence from in situ hybridization in marsupials and a monotreme  Academic Article
• The fragile X premutation and autistic spectrum disorders.  Conference Paper
• The human Y chromosome derives largely from a single autosomal region added to the sex chromosomes 80–130 million years ago  Academic Article
• The interrelationship of pattern elements on soles.  Academic Article
• The minimal mammalian Y chromosome – the marsupial Y as a model system  Academic Article
• The origin and evolution of the pseudoautosomal regions of human sex chromosomes  Academic Article
• The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome  Academic Article
• The rice (Oryza sativa L.) LESION MIMIC RESEMBLING, which encodes an AAA-type ATPase, is implicated in defense response  Academic Article
• Tight linkage between MPI and NP in baboons  Academic Article
• Timing and genetic rapport between growth in skeletal maturity and height around puberty: Similarities and differences between girls and boys  Academic Article
• Tissue-specific methylation differences in a fragile X premutation carrier  Academic Article
• Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats  Academic Article
• Transcriptome analysis reveals intermittent fasting-induced genetic changes in ischemic stroke  Academic Article
• Transcriptome analysis reveals intermittent fasting-induced genetic changes in ischemic stroke  Erratum
• Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions  Academic Article
• Triploid Atlantic salmon shows similar performance, fatty acid composition and proteome response to diploids during early freshwater rearing  Academic Article
• Twin Research and Human Genetics  Journal
• Two Y-chromosome-specific restriction fragment length polymorphisms (DYS11 and DYZ8) in Italian and Greek migrants to Australia.  Academic Article
• Untitled  Academic Article
• Use of AFLP and RAPD molecular genetic markers and cytogenetic analysis to explore relationships among taxa of the Patagonian Bromus setifolius complex  Academic Article
• Use of AFLP and RAPD molecular genetic markers and cytogenetic analysis to explore relationships between taxa of the Patagonian Bromus setifolius complex  Academic Article
• Validation of in silico-predicted genic SNPs in white clover (Trifolium repens L.), an outbreeding allopolyploid species  Academic Article
• Validation of markers with non-additive effects on milk yield and fertility in Holstein and Jersey cows  Academic Article
• Variation in the gene coding for the M5 Muscarinic receptor (CHRM5) influences cigarette dose but is not associated with dependence to drugs of addiction: evidence from a prospective population based cohort study of young adults  Academic Article
• Visualizing Chromosome Mosaicism and Detecting Ethnic Outliers by the Method of "Rare" Heterozygotes and Homozygotes (RHH)  Academic Article
• Y-chromosome-specific microsatellite variation in Australian aboriginals  Academic Article
• “Reduction” of CGG trinucleotide expansion from mother to offspring in seven fragile-X families  Academic Article