Consanguinity

Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY

Biological Chemistry / Biological Sciences / Humans / Mutation / Alternative splicing / Skin / CHEMICAL SCIENCES / Consanguinity / Alternative Splicing / DNA mutational analysis / Skin / CHEMICAL SCIENCES / Consanguinity / Alternative Splicing / DNA mutational 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

Parentesco, consanguinidad y modelos matrimoniales en la huerta de Murcia en los siglos XVIII-XIX: La consanguinidad múltiple.

Kinship (Anthropology) / Anthropology of Kinship / Consanguineous marriages / Familia Y Matrimonio / Consanguinity / EN LA ACTUALIDAD TRABAJO TEMAS DE CONSANGUINIDAD Y PARENTESCO

Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism

Pakistan / Humans / Female / Inborn errors of metabolism / Phenotype / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry

Bile acid-CoA ligase deficiency—a new inborn error of bile acid metabolism

Pakistan / Humans / Female / Inborn errors of metabolism / Phenotype / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry / Clinical Sciences / Genotype / Consanguinity / Gas Chromatography/mass Spectrometry

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Molecular Genetics / Adolescent / Humans / Female / Animals / Levodopa / Dystonia / Clinical Sciences / Consanguinity / Diurnal Variation / Biological markers / Developmental delay / Autosomal Recessive / Levodopa / Dystonia / Clinical Sciences / Consanguinity / Diurnal Variation / Biological markers / Developmental delay / Autosomal Recessive

Aromatic L-Amino Acid Decarboxylase Deficiency Is a Cause of Long-Fasting Hypoglycemia

Cognitive Science / Neurology / Magnetic Resonance Imaging / Treatment Outcome / Adolescent / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment / Movement disorders / Dopamine / Cerebrospinal Fluid / Brain / Pregnancy / Humans / Child / Hemodynamics / Female / Inborn errors of metabolism / Male / Young Adult / Infant / Follow-up studies / Amniotic Fluid / Differential Diagnosis / Pedigree / Levodopa / Child Neurology / Clinical Sciences / Newborn Infant / European / Longitudinal Studies / Pyridoxine / Adult / Consanguinity / Retrospective Studies / Neuropediatrics / Combination drug therapy / Amino Acid Profile / Biogenic amines / Autosomal Recessive / Clinical Presentation / Neurosciences / Nervous System Diseases / Age of Onset / Movement Disorder / Bromocriptine / Serotonin Uptake Inhibitors / Founder Effect / Medical Treatment

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

Reversible deafness caused by biotinidase deficiency

Pediatric Neurology / Humans / Male / Infant / Hearing Loss / Biotin / Deafness / Consanguinity / Neurosciences / Biotin / Deafness / Consanguinity / Neurosciences

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Genetics / Blindness / Membrane Proteins / Humans / Child / Mutation / Clinical Sciences / Consanguinity / Biological markers / Molecular Diagnostic Techniques / Guanylate Cyclase / Case Control Studies / Mutation / Clinical Sciences / Consanguinity / Biological markers / Molecular Diagnostic Techniques / Guanylate Cyclase / Case Control Studies

Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)

Rape / Magnetic Resonance Imaging / Face / Brain development / Mental Retardation / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome / Brain / Pregnancy / Humans / Corpus Callosum / Cerebellum / Female / Thorax / Male / Infant / Differential Diagnosis / Newborn Infant / Adult / Consanguinity / X ray Computed Tomography / Syndrome

Cerebro-costo-mandibular syndrome: A case report

Pediatrics / Case Report / Humans / Male / Consanguinity / Syndrome / Ribs / Syndrome / Ribs

Fatal familial infantile glycogen storage disease: Multisystem phosphofructokinase deficiency

Electron Microscopy / Israel / Biopsy / Humans / Muscle / Phosphofructokinase / Female / Male / Muscles / Infant / Ethnic Groups / Consanguinity / Glycogen / Phosphofructokinase / Female / Male / Muscles / Infant / Ethnic Groups / Consanguinity / Glycogen

d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder

Japan / Biological Sciences / Humans / Liver / Fatty acids / Female / Polymerase Chain Reaction / Infant / Fluorescent Antibody Technique / Consanguinity / Multienzyme complexes / Human Fibroblasts / Oxidation-Reduction / The American / Female / Polymerase Chain Reaction / Infant / Fluorescent Antibody Technique / Consanguinity / Multienzyme complexes / Human Fibroblasts / Oxidation-Reduction / The American

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

Magnetic Resonance Imaging / Saudi Arabia / Brain / Humans / Female / Male / Magnetic Resonance / Early development / Enzyme / Clinical Sciences / Newborn Infant / Atrophy / Consanguinity / Computerized tomography / Enzyme activity / Lymphocytes / Human Fibroblasts / X ray Computed Tomography / Clinical Presentation / White Matter Lesions / Organic Acid / Mass Spectrometer / Male / Magnetic Resonance / Early development / Enzyme / Clinical Sciences / Newborn Infant / Atrophy / Consanguinity / Computerized tomography / Enzyme activity / Lymphocytes / Human Fibroblasts / X ray Computed Tomography / Clinical Presentation / White Matter Lesions / Organic Acid / Mass Spectrometer

Reproductive pattern in consanguineous and non-consanguineous marriages in La Cabrera, Spain

Fertility / Spain / Humans / Female / Male / Infant / Registries / Middle Aged / Adult / Birth Rate / Infant Mortality / Consanguinity / Biochemistry and cell biology / Infant / Registries / Middle Aged / Adult / Birth Rate / Infant Mortality / Consanguinity / Biochemistry and cell biology
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