Genetic linkage analysis

Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Genetics / Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool / Epilepsy / Histology / Immunohistochemistry / Creatine / Magnetic Resonance Spectroscopy / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Microcephaly / Female / Muscular Dystrophies / Male / Muscles / Infant / Developmental disabilities / Cataract / D-Aspartic Acid / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Spectrum / Fluorescent Antibody Technique / Family Health / Facies / Adult / Neuromuscular Disorders / Time Factors / Consanguinity / Nuclear Family / Neuronal Migration / Neuropediatrics / Dystrophin / X ray Computed Tomography / Choline / Nuclear Magnetic Resonance Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Nino / Myelin Sheath / Magnetic resonance image / Laminin / Congenital muscular dystrophy / Child preschool

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An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data

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An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data

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An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Molecular Sequence Data

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Genética de la preeclampsia: una aproximación a los estudios de ligamiento genético

Genetics / Public Health / Genetic Map / Risk factors / Genetic linkage analysis / Risk Factors / Biomedica / Genetic Mapping / Chromosomes / Genetic Susceptibility / Linkage Analysis / Palabras Clave: BIM / Risk Factors / Biomedica / Genetic Mapping / Chromosomes / Genetic Susceptibility / Linkage Analysis / Palabras Clave: BIM

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Secondary calpain3 deficiency in 2q-linked muscular dystrophy

Cognitive Science / Neurology / Immunohistochemistry / Humans / Protein Kinases / Mice / Haplotypes / Muscular Dystrophies / Animals / Muscles / Pedigree / Genetic linkage analysis / Clinical Sciences / Calpain / Isoenzymes / Neurosciences / Mice / Haplotypes / Muscular Dystrophies / Animals / Muscles / Pedigree / Genetic linkage analysis / Clinical Sciences / Calpain / Isoenzymes / Neurosciences

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Transpecific polymorphisms in an inversion linked esterase locus in Drosophila buzzatii

Evolutionary Biology / Genetics / Polymorphism / Gene Flow / In Situ Hybridization / Natural Selection / DNA / Drosophila / Sequence alignment / Animals / Polymerase Chain Reaction / Molecular biology and evolution / Gene Conversion / Genetic linkage analysis / Balancing selection / Genetic Differentiation / Genetic Recombination / Genetic variation / Base Sequence / Amino Acid Substitution Rates / Neutral Theory / Nucleotide Polymorphism / Nucleotides / Biochemistry and cell biology / Molecular Sequence Data / Natural Selection / DNA / Drosophila / Sequence alignment / Animals / Polymerase Chain Reaction / Molecular biology and evolution / Gene Conversion / Genetic linkage analysis / Balancing selection / Genetic Differentiation / Genetic Recombination / Genetic variation / Base Sequence / Amino Acid Substitution Rates / Neutral Theory / Nucleotide Polymorphism / Nucleotides / Biochemistry and cell biology / Molecular Sequence Data

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The rug3 Locus of Pea Encodes Plastidial Phosphoglucomutase

Biological Sciences / Plant Physiology / Plant / Genetic linkage analysis / Enzyme / Molecular cloning / Amino Acid Sequence / Base Sequence / Molecular cloning / Amino Acid Sequence / Base Sequence

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Sex genes for genomic analysis in human brain: internal controls for comparison of probe level data extraction

Algorithms / Genomics / Computational Biology / Statistical Analysis / Drosophila melanogaster / Biological Control / Gene expression / Prefrontal Cortex / Quality Control / Sexual dimorphism / Biological Sciences / DNA / Internal Control / Multiple testing / Phylogeny / Humans / Sex Difference / Mathematical Sciences / Female / Animals / Statistical Techniques in Spatial Analysis / Male / Sex chromosomes / Word Frequency / Data Quality / Genome Analysis / BMC Bioinformatics / Genome / Human Brain / Genetic linkage analysis / Gold Standard / Mode of action / Sex Differentiation / False discovery rate / X chromosome / Indexation / Large Scale / Gene Expression Analysis / Sensitivity and Specificity / Experimental Data / Internet / Data Extraction / DNA-footprinting / Sex Chromosome / Microarray Data / Gene expression profiling / False Negative / Relative Position / Differential expression / Biological Control / Gene expression / Prefrontal Cortex / Quality Control / Sexual dimorphism / Biological Sciences / DNA / Internal Control / Multiple testing / Phylogeny / Humans / Sex Difference / Mathematical Sciences / Female / Animals / Statistical Techniques in Spatial Analysis / Male / Sex chromosomes / Word Frequency / Data Quality / Genome Analysis / BMC Bioinformatics / Genome / Human Brain / Genetic linkage analysis / Gold Standard / Mode of action / Sex Differentiation / False discovery rate / X chromosome / Indexation / Large Scale / Gene Expression Analysis / Sensitivity and Specificity / Experimental Data / Internet / Data Extraction / DNA-footprinting / Sex Chromosome / Microarray Data / Gene expression profiling / False Negative / Relative Position / Differential expression

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An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American

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X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping

Adolescent / Humans / Haplotypes / Female / Male / Genetic Map / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / X chromosome / Neurosciences / Vacuoles / Genetic Map / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / X chromosome / Neurosciences / Vacuoles

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X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American

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X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome

Creatine / Intellectual Disability / Biological Sciences / Humans / Child / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American / Female / Male / Developmental disabilities / Pedigree / Membrane transport proteins / Genetic linkage analysis / X chromosome / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Syndrome / The American

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Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

Cognitive Science / Magnetic Resonance Imaging / Positron Emission Tomography / Amyotrophic Lateral Sclerosis / Brain / Humans / Haplotypes / Female / Male / Iron / Differential Diagnosis / Electromyography / Phosphorylation / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / DNA binding proteins / Neurosciences / Humans / Haplotypes / Female / Male / Iron / Differential Diagnosis / Electromyography / Phosphorylation / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / DNA binding proteins / Neurosciences

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Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

Cognitive Science / Magnetic Resonance Imaging / Positron Emission Tomography / Amyotrophic Lateral Sclerosis / Brain / Humans / Haplotypes / Female / Male / Iron / Differential Diagnosis / Electromyography / Phosphorylation / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / DNA binding proteins / Neurosciences / Humans / Haplotypes / Female / Male / Iron / Differential Diagnosis / Electromyography / Phosphorylation / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Frontotemporal Dementia / DNA binding proteins / Neurosciences

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Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation

Pathology / Cognitive Science / Skeletal muscle biology / Magnetic Resonance Imaging / Epilepsy / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath / Histology / Immunohistochemistry / Adolescent / Intellectual Disability / Brain development / Israel / Biopsy / Mental Retardation / London / Brain / Humans / Child / Cerebellum / Muscle / Cerebral Cortex / Haplotypes / Female / Muscular Dystrophies / Male / Muscles / Infant / Cataract / Central Nervous System / Medical Physiology / Pedigree / Creatine Kinase / Genetic linkage analysis / Clinical Sciences / Fluorescent Antibody Technique / Skeletal Muscle / Adult / Neuromuscular Disorders / Time Factors / Scoliosis / Consanguinity / Neuronal Migration / Neuropediatrics / Torticollis / Dystrophin / X ray Computed Tomography / Nuclear Magnetic Resonance Imaging / Mr Imaging / Genetic Markers / Neurosciences / Linkage Analysis / Occipital Lobe / Nino / Myelin Sheath

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