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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Biological Sciences / Humans / Mutation / Female / Animals / Male / Endoplasmic Reticulum / Cataract / Pedigree / Zebrafish / Amino Acid Sequence / Golgi Apparatus / Facial Bones / Protein Transport / Molecular Sequence Data / Male / Endoplasmic Reticulum / Cataract / Pedigree / Zebrafish / Amino Acid Sequence / Golgi Apparatus / Facial Bones / Protein Transport / Molecular Sequence Data

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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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Efficient Genotype Elimination via Adaptive Allele Consolidation

Genetics / Algorithms / Computational Biology / Biological Sciences / Humans / Computer Simulation / Mathematical Sciences / Haplotypes / Female / Male / Pedigree / High performance / Genotype / Linkage Analysis / Founder Effect / Inheritance Patterns / Computer Simulation / Mathematical Sciences / Haplotypes / Female / Male / Pedigree / High performance / Genotype / Linkage Analysis / Founder Effect / Inheritance Patterns

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A Canine Model of Human alpha -L-iduronidase Deficiency

Multidisciplinary / Dogs / Humans / Female / Animals / Male / Animal Model / Skin / Pedigree / Autosomal Recessive / Lysosomes / Leukocytes / Male / Animal Model / Skin / Pedigree / Autosomal Recessive / Lysosomes / Leukocytes

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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Magnetic Resonance Imaging / Biological Sciences / Humans / Cerebral Cortex / Haplotypes / Female / Male / Linkage / Genetic determinism / Gene / Pedigree / Phenotype / Gen / X chromosome / Locus / CM / The American / Female / Male / Linkage / Genetic determinism / Gene / Pedigree / Phenotype / Gen / X chromosome / Locus / CM / The American

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Familial partial monosomy 7 and myelodysplasia

Cancer Genetics / Acute Myeloid Leukemia / Humans / Child / Myelodysplastic Syndrome / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool

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Familial partial monosomy 7 and myelodysplasia

Cancer Genetics / Acute Myeloid Leukemia / Humans / Child / Myelodysplastic Syndrome / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Child preschool

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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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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

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Multiple Endocrine Neoplasia Type1: An Unusual Presentation

Genetics / Molecular Biology / Surgical Oncology / Gene expression / Macromolecular X-Ray Crystallography / Biological Sciences / Humans / Mutagenesis / Genetic Testing / Mutation / Mice / Female / Animals / Male / Gene / Pedigree / Risk factors / Phenotype / Insulinoma / Clinical Sciences / Molecular cloning / Gen / Genotype / Adult / Pituitary Adenoma / Disease Progression / Risk Factors / Hyperparathyroidism / Primary hyperparathyroidism / Amino Acid Substitution Rates / X ray Computed Tomography / Adenoma / Endocrinologist / Hypercalcemia / Pituitary Neoplasms / Biological Sciences / Humans / Mutagenesis / Genetic Testing / Mutation / Mice / Female / Animals / Male / Gene / Pedigree / Risk factors / Phenotype / Insulinoma / Clinical Sciences / Molecular cloning / Gen / Genotype / Adult / Pituitary Adenoma / Disease Progression / Risk Factors / Hyperparathyroidism / Primary hyperparathyroidism / Amino Acid Substitution Rates / X ray Computed Tomography / Adenoma / Endocrinologist / Hypercalcemia / Pituitary Neoplasms

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Machado-Joseph disease versus hereditary spastic paraplegia: case report

Cognitive Science / Case Report / Humans / Female / Differential Diagnosis / Pedigree / Phenotype / Clinical Sciences / Adult / Hereditary spastic paraplegia / Machado-Joseph Disease / Pedigree / Phenotype / Clinical Sciences / Adult / Hereditary spastic paraplegia / Machado-Joseph Disease

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Paternal Mitochondrial DNA Transmission During Nonhuman Primate Nuclear Transfer

Genetics / Primates / Mitochondrial DNA / Sequence alignment / Female / Animals / Embryonic Stem Cell / Gene transfer techniques / Male / Pedigree / nuclear DNA / Cell nucleus / Base Sequence / Nuclear Transfer / Molecular Sequence Data / Animals / Embryonic Stem Cell / Gene transfer techniques / Male / Pedigree / nuclear DNA / Cell nucleus / Base Sequence / Nuclear Transfer / Molecular Sequence Data

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Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Neurology / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies

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