Pedigree

Chromosome 3 linked frontotemporal dementia (FTD-3)

Cognitive Science / Neurology / Dementia / Magnetic Resonance Imaging / Denmark / Temporal Lobe / Brain / Humans / Cerebral Cortex / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Autopsy / Single Photon Emission Computed Tomography / Parietal Lobe / Blood Flow / Frontotemporal Dementia / X ray Computed Tomography / Cerebral Blood Flow / Neurosciences / Frontal Lobe / Tissue Fixation / Age at Onset / Temporal Lobe / Brain / Humans / Cerebral Cortex / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Autopsy / Single Photon Emission Computed Tomography / Parietal Lobe / Blood Flow / Frontotemporal Dementia / X ray Computed Tomography / Cerebral Blood Flow / Neurosciences / Frontal Lobe / Tissue Fixation / Age at Onset

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3

Survival Analysis / Probability / Biological Sciences / Humans / Child / Female / Male / Pedigree / Genetic linkage analysis / Introns / Survival Rate / Age Factors / Genetic Recombination / Troponin / Tropomyosin / Base Sequence / Hypertrophic Cardiomyopathy / Genetic Markers / Troponin I / Contractile Proteins / Female / Male / Pedigree / Genetic linkage analysis / Introns / Survival Rate / Age Factors / Genetic Recombination / Troponin / Tropomyosin / Base Sequence / Hypertrophic Cardiomyopathy / Genetic Markers / Troponin I / Contractile Proteins

Xeroderma Pigmentosum-Variant Patients from America, Europe, and Asia

Adolescent / Humans / Child / Skin Cancer / Mutation / Europe / Female / Asia / Male / DNA sequence design / Nucleotide Excision Repair / Pedigree / Clinical Sciences / North America / Aged / Middle Aged / Spectrum / Adult / INVESTIGATIVE / Human Fibroblasts / Xeroderma Pigmentosum / Europe / Female / Asia / Male / DNA sequence design / Nucleotide Excision Repair / Pedigree / Clinical Sciences / North America / Aged / Middle Aged / Spectrum / Adult / INVESTIGATIVE / Human Fibroblasts / Xeroderma Pigmentosum

Angioma serpiginosum—familial incidence

British / Humans / Child / Pedigree / Clinical Sciences / Adult / Leg / Adult / Leg

Three autosomal dominant corneal dystrophies map to chromosome 5q

Amyloid / Italy / Biological Sciences / Humans / United States / Female / Male / Pedigree / Genetic linkage analysis / Genetic Markers / Female / Male / Pedigree / Genetic linkage analysis / Genetic Markers

Autosomal dominant temporal lobe epilepsy in a Japanese family

Magnetic Resonance Imaging / Japan / Positron Emission Tomography / Hippocampus / Humans / Glucose Metabolism / Female / Male / Temporal Lobe Epilepsy / Pedigree / Clinical Sciences / Middle Aged / Single Photon Emission Computed Tomography / Adult / Neurosciences / Glucose Metabolism / Female / Male / Temporal Lobe Epilepsy / Pedigree / Clinical Sciences / Middle Aged / Single Photon Emission Computed Tomography / Adult / Neurosciences

Vitamin E deficiency ataxia associated with adenoma

Immunohistochemistry / Humans / Prolactin / Male / Central Nervous System / Vitamin E / The / Pedigree / Clinical Sciences / Peripheral Neuropathy / Adult / Ataxia / X ray Computed Tomography / Adenoma / Neurosciences / Vitamin E / The / Pedigree / Clinical Sciences / Peripheral Neuropathy / Adult / Ataxia / X ray Computed Tomography / Adenoma / Neurosciences

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Biological Sciences / Humans / Mice / Female / Animals / Male / Netherlands / Pedigree / Phenotype / Molecular cloning / Fluorescent in situ hybridization / Base Sequence / Syndrome / The American / Male / Netherlands / Pedigree / Phenotype / Molecular cloning / Fluorescent in situ hybridization / Base Sequence / Syndrome / The American

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis

Cognitive Science / Neurology / Adolescent / Humans / Female / Male / Infant / Potassium / Electromyography / Pedigree / Clinical Sciences / Adult / Acetazolamide / Voltage-Gated Sodium Channels / Codon / Amino Acid Substitution Rates / Action Potentials / Exercise Test / Neurosciences / Potassium Chloride / Thyrotoxicosis / Male / Infant / Potassium / Electromyography / Pedigree / Clinical Sciences / Adult / Acetazolamide / Voltage-Gated Sodium Channels / Codon / Amino Acid Substitution Rates / Action Potentials / Exercise Test / Neurosciences / Potassium Chloride / Thyrotoxicosis

Spinocerebellar Ataxia Type 2 (SCA2): Clinical Features and Genetic Analysis

Adolescent / Rwanda / Movement disorders / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia / Female / Spinocerebellar ataxia / Pedigree / Phenotype / Genetic Analysis / Ophthalmoplegia

Biomarker discovery by plasma proteomics in familial Brugada Syndrome

Proteomics / Electrocardiography / Humans / Female / Male / Tandem Mass Spectrometry / Pedigree / Biological markers / Two-Dimensional Gel Electrophoresis / Proteome / Brugada Syndrome / Prothrombin / Alpha-1 Antitrypsin / Biochemistry and cell biology / Tandem Mass Spectrometry / Pedigree / Biological markers / Two-Dimensional Gel Electrophoresis / Proteome / Brugada Syndrome / Prothrombin / Alpha-1 Antitrypsin / Biochemistry and cell biology

Sperm chromosome analysis to assess potential germ cell mosaicism

Genetics / Humans / Clinical Genetics / Male / Karyotyping / Pedigree / Clinical Sciences / Newborn Infant / Adult / Chromosome Disorders / Mosaicism / Spermatozoa / Germ Cell / Pedigree / Clinical Sciences / Newborn Infant / Adult / Chromosome Disorders / Mosaicism / Spermatozoa / Germ Cell

A Novel Locus (RP24) for X-linked Retinitis Pigmentosa Maps to Xq26-27

Genetics / Biological Sciences / Humans / Retinitis pigmentosa / Female / Male / Eye Disease / Pedigree / Degeneration / X chromosome / Genetic Markers / Linkage Analysis / The American / Male / Eye Disease / Pedigree / Degeneration / X chromosome / Genetic Markers / Linkage Analysis / The American

Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17

Cognitive Science / Dementia / Humans / Female / Male / Differential Diagnosis / Pedigree / Genetic linkage analysis / Clinical Sciences / Middle Aged / Adult / Prion disease / Frontotemporal Dementia / Age at Onset / Differential Diagnosis / Pedigree / Genetic linkage analysis / Clinical Sciences / Middle Aged / Adult / Prion disease / Frontotemporal Dementia / Age at Onset

Biomarker discovery by plasma proteomics in familial Brugada Syndrome

Proteomics / Electrocardiography / Humans / Female / Male / Tandem Mass Spectrometry / Pedigree / Biological markers / Two-Dimensional Gel Electrophoresis / Two dimensional Gel Electrophoresis / Proteome / Brugada Syndrome / Prothrombin / Alpha-1 Antitrypsin / Biochemistry and cell biology / Tandem Mass Spectrometry / Pedigree / Biological markers / Two-Dimensional Gel Electrophoresis / Two dimensional Gel Electrophoresis / Proteome / Brugada Syndrome / Prothrombin / Alpha-1 Antitrypsin / Biochemistry and cell biology

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Adolescent / Movement disorders / Brain / Humans / Child / Female / Male / Polymerase Chain Reaction / Genetic Association Studies / Young Adult / Infant / Pedigree / Phenotype / Adult / Juvenile / Age of Onset / Immunoblotting / Female / Male / Polymerase Chain Reaction / Genetic Association Studies / Young Adult / Infant / Pedigree / Phenotype / Adult / Juvenile / Age of Onset / Immunoblotting

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