Genetics & Heredity
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Overview
subject area of
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18. Axonopathy in a mouse model of Krabbe disease Academic Article
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???????? / Genetika / Russian Journal of Genetics Journal
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism Academic Article
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A genome-wide linkage study in autism. Academic Article
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A genome-wide scan for common alleles affecting risk for autism. Academic Article
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A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Academic Article
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A genomewide screen for autism susceptibility loci. Academic Article
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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Academic Article
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Academic Article
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A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice. Academic Article
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A restriction enzyme cleavage map of Tn5 and location of a region encoding neomycin resistance. Academic Article
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ADAR RNA editing in human disease; more to it than meets the I. Academic Article
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Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Academic Article
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Altered palmitoylation and neuropathological deficits in mice lacking HIP14. Academic Article
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American Journal of Human Genetics Journal
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics Journal
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An interspecific backcross linkage map of the proximal half of mouse chromosome 14. Academic Article
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Analysis of YFP(J16)-R6/2 reporter mice and postmortem brains reveals early pathology and increased vulnerability of callosal axons in Huntington's disease. Academic Article
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Annual Review of Genomics and Human Genetics Journal
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BAC library for the amphipod crustacean, Parhyale hawaiensis. Academic Article
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BMC Genetics Journal
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BMC Medical Genetics Journal
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BMC Medical Genomics Journal
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Biochemical and genetic analysis of ANK in arthritis and bone disease. Academic Article
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Bisdiamine inhibits extracellular matrix formation and cell proliferation of atrioventricular mesenchyme from developing chick heart valves. Academic Article
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CIRCULAR DNAS OF MOBILE DISPERSED GENES IN DROSOPHILA-MELANOGASTER CELL-CULTURE Academic Article
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CNV Academic Article
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Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Academic Article
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Characterization of an RNA "binding site" for a specific ribosomal protein of Escherichia coli. Academic Article
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Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase. Academic Article
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Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci. Academic Article
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Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2. Academic Article
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Chromosomal location of murine and human IL-1 receptor genes. Academic Article
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Clinical Genetics Journal
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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Academic Article
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Comparative Biochemistry and Physiology - Part D: Genomics and Proteomics Journal
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Confirmatory evidence of linkage for autism to 7q based on combined analysis of three independent data sets. Academic Article
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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Academic Article
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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. Academic Article
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Cytogenetics and cell genetics Cytogenetic and genome research Journal
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De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. Academic Article
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Defining cis-acting regulatory elements by transgenic BAC scanning and comparative sequencing: examples from the GDF/BMP gene family. Conference Paper
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Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer Academic Article
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Detection of potential GDF6 regulatory elements by multispecies sequence comparisons and identification of a skeletal joint enhancer. Academic Article
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Efficient suppression of the requirement for N function of bacteriophage lambda by a Rho-defective E.coli suA mutant. Academic Article
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Encyclopedia of the mouse genome III. October 1993. Mouse chromosome 9. Academic Article
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Epistatic interactions between modifier genes confer strain-specific redundancy for Tgfb1 in developmental angiogenesis. Academic Article
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European Journal of Human Genetics Journal
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Evidence for ADAR-induced hypermutation of the Drosophila sigma virus (Rhabdoviridae). Academic Article
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Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Academic Article
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Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Academic Article
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Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Academic Article
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Evolution of Courtship Songs in Xenopus : Vocal Pattern Generation and Sound Production. Academic Article
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Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Academic Article
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Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Academic Article
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Expression profiling identifies novel Hh/Gli-regulated genes in developing zebrafish embryos. Academic Article
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FINE-STRUCTURE OF LONG TERMINAL REPEATS AND THE STEPS OF REVERSE TRANSCRIPTION OF DROSOPHILA MOBILE DISPERSED GENETIC ELEMENTS Academic Article
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FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications. Academic Article
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Family-based association tests for sequence data, and comparisons with population-based association tests. Academic Article
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Finding disease variants in Mendelian disorders by using sequence data: methods and applications. Academic Article
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Fundulus as the premier teleost model in environmental biology: opportunities for new insights using genomics. Academic Article
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Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. Academic Article
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Genetic and epigenetic changes involving (retro)transposons in animal hybrids and polyploids. Academic Article
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Genetics and genomics of autism spectrum disorder: embracing complexity. Academic Article
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GenoScan: A Genome-Wide Scan Statistic Framework for Whole-Genome Sequence Data Analysis with Applications to Data from the Simons Simplex Collection Conference Paper
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Genomics Journal
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Hereditary Spastic Paraplegia: gain-of-function mechanisms revealed by new transgenic mouse. Academic Article
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Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Academic Article
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Human Genetics Journal
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Human Molecular Genetics Journal
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Human Mutation Journal
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Human heredity Journal
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Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. Academic Article
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Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to Gene VPS13B, Involved in Cohen Syndrome and Autism Academic Article
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Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Academic Article
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Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. Academic Article
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Individual common variants exert weak effects on the risk for autism spectrum disorders. Academic Article
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Inosine induced mutations. Academic Article
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Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. Academic Article
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Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. Academic Article
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Journal of medical genetics Journal
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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Academic Article
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Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression. Academic Article
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Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression. Academic Article
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Large-scale candidate gene screening and association analysis in schizophrenia. Academic Article
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Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. Academic Article
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MOLECULAR ANALYSIS OF RETROTRANSPOSON MDG4 CLONED FROM 2 DROSOPHILA-MELANOGASTER STRAINS DIFFERING IN GENETIC INSTABILITY Academic Article
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Mammalian Genome Journal
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Mobile genetic elements and sexual reproduction. Academic Article
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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores. Academic Article
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Molecular & general genetics : MGG Molecular Genetics and Genomics Journal
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Molecular Genetics and Metabolism Journal
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Molecular Polymorphism and Divergence of Duplicated Genes in Tetraploid African Clawed Frogs (Xenopus). Academic Article
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Molecular analysis of the gypsy (mdg4) retrotransposon in two Drosophila melanogaster strains differing by genetic instability. Academic Article
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Molecular cloning and chromosomal mapping of the mouse cyclin-dependent kinase 5 gene. Academic Article
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Molecular cloning and chromosomal mapping of the mouse gene encoding cyclin-dependent kinase 5 regulatory subunit p35. Academic Article
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Molecular diversity of the SCG10/stathmin gene family in the mouse. Academic Article
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Molecular physiology of copepods - from biomarkers to transcriptomes and back again. Academic Article
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Mouse chromosome 9. Academic Article
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Mouse chromosome 9. Academic Article
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Mouse chromosome 9. Academic Article
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Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing. Academic Article
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Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. Academic Article
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Mutant spastin proteins promote deficits in axonal transport through an isoform-specific mechanism involving casein kinase 2 activation. Academic Article
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Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. Academic Article
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Mutations in ANKH cause chondrocalcinosis. Academic Article
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Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability. Academic Article
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OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Academic Article
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Overexpression of the Cdk5 inhibitory peptide in motor neurons rescue of amyotrophic lateral sclerosis phenotype in a mouse model. Academic Article
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POSITIONAL CLONING OF THE SNELLS WALTZER GENE - A MOUSE MODEL FOR HUMAN AUTOSOMAL RECESSIVE DEAFNESS Conference Paper
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Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Academic Article
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Penelope-like elements--a new class of retroelements: distribution, function and possible evolutionary significance. Academic Article
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Polyploidy in Amphibia. Academic Article
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Preface. Academic Article
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Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies. Academic Article
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Proteomic analysis of anoxia tolerance in the developing zebrafish embryo. Academic Article
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Repressor and int synthesis of bacteriophage lambda in the E. coli host mutant ER437. Academic Article
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Response to Ott and Hoh. Academic Article
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Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. Academic Article
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Screening of candidate genes related to mylination for mutations associated with schizophrenia. Academic Article
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Sequence kernel association tests for the combined effect of rare and common variants. Academic Article
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Structure, expression, and chromosomal localization of the mouse Atox1 gene. Academic Article
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THE STRUCTURE OF LONG TERMINAL REPEATS OF TRANSCRIPTIONALLY ACTIVE AND INACTIVE COPIES OF DROSOPHILA MOBILE DISPERSED GENETIC ELEMENTS-MDG3 Academic Article
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TRANSCRIPTION OF DROSOPHILA MOBILE ELEMENT MDG4 IN HEAT SHOCKED CELLS Academic Article
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Teratology Birth Defects Research Part A: Clinical and Molecular Teratology Journal
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The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4. Academic Article
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The Microbiome and Human Biology. Academic Article
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The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Academic Article
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The construction of lambda transducing phages containing deletions defining regulatory elements of the lac and trp operons in E. coli. Academic Article
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The human-specific CASP4 gene product contributes to Alzheimer-related synaptic and behavioural deficits. Academic Article
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The requirement of nonsense suppression for the development of several phages. Academic Article
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The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight. Academic Article
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Third Report on Chicken Genes and Chromosomes 2015. Academic Article
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Transcriptome-wide analysis of the response of the thecosome pteropod Clio pyramidata to short-term CO2 exposure. Academic Article
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Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. Academic Article
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Unraveling the Tangled Skein: The Evolution of Transcriptional Regulatory Networks in Development. Academic Article
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Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. Academic Article
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Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Academic Article
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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Academic Article
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[Cloning and molecular analysis of retrotransposon mdg4 from two Drosophila melanogaster strains, differing in genetic instability]. Academic Article
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[Fine structure of long terminal repeats and stages of reverse transcription of mobile dispersed genes in Drosophila]. Academic Article
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[Structure of long terminal repeats of transcriptionally active and inactive copies of the mobile dispersed gene MDG3 in Drosophila melanogaster]. Academic Article
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[Transcription of Drosophila MDG4 mobile element under hyperthermic conditions]. Academic Article