Pedigree

Congenital CataractsFacial DysmorphismNeuropathy syndrome

Genetics / Magnetic Resonance Imaging / Bulgaria / Electroencephalography / Face / Adolescent / Electrocardiography / Developmental Coordination Disorder / Gene Mapping / Brain / Humans / Child / Female / Male / Infant / Gypsies / Cataract / Pedigree / Phenotype / Clinical Sciences / European / Adult / Linkage Disequilibrium / Nervous System / Annals / Syndrome / Neurosciences / Nervous System Diseases / Founder Effect / Adolescent / Electrocardiography / Developmental Coordination Disorder / Gene Mapping / Brain / Humans / Child / Female / Male / Infant / Gypsies / Cataract / Pedigree / Phenotype / Clinical Sciences / European / Adult / Linkage Disequilibrium / Nervous System / Annals / Syndrome / Neurosciences / Nervous System Diseases / Founder Effect

Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features

Genetics / Skeletal muscle biology / Membrane Proteins / Limb Girdle Muscular Dystrophy / Biopsy / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult

Diagnóstico molecular del retinoblastoma: epidemiología molecular y consejo genético

Molecular Epidemiology / Genetic counseling / Humans / Child / Mutation / genetic Counselling / Female / Male / Pedigree / Retinoblastoma / Medicina Clinica / retinoblastoma protein (RB1). / genetic Counselling / Female / Male / Pedigree / Retinoblastoma / Medicina Clinica / retinoblastoma protein (RB1).

Molecular Genetic Characterisation of Frontotemporal Dementia on Chromosome 3

Cognitive Science / Dementia / Immunohistochemistry / Molecular Genetics / Denmark / Temporal Lobe / Humans / Child / DNA fingerprinting / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / Frontotemporal Dementia / Disease Progression / Trinucleotide Repeat Disorders / Neurosciences / Frontal Lobe / Temporal Lobe / Humans / Child / DNA fingerprinting / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / Frontotemporal Dementia / Disease Progression / Trinucleotide Repeat Disorders / Neurosciences / Frontal Lobe

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

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

Clinical genetics of familial progressive supranuclear palsy

Genetics / Dementia / Progressive Supranuclear Palsy / Gait / Brain / Humans / Female / Male / Tremor / Pedigree / Dystonia / Aged / Middle Aged / Spectrum / Adult / Ophthalmoplegia / Humans / Female / Male / Tremor / Pedigree / Dystonia / Aged / Middle Aged / Spectrum / Adult / Ophthalmoplegia

Etiology of musician\'s dystonia: Familial or environmental?

Cognitive Science / Neurology / Music / Family / Humans / Female / Male / Pedigree / Risk factors / Dystonia / Clinical Sciences / Aged / Middle Aged / Questionnaires / Adult / Risk Factors / Occupational Diseases / Environment / Neurosciences / Female / Male / Pedigree / Risk factors / Dystonia / Clinical Sciences / Aged / Middle Aged / Questionnaires / Adult / Risk Factors / Occupational Diseases / Environment / Neurosciences

Familial Pseudo-Wolff-Parkinson-White Syndrome

Electrocardiography / Humans / Female / Male / Pedigree / Aged / Middle Aged / Adult / Familial Mediterranean Fever / Aged / Middle Aged / Adult / Familial Mediterranean Fever

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12

Genetics / Sequence Analysis / Humans / Genetic Testing / Haplotypes / Female / Male / Polymerase Chain Reaction / Cataract / Pedigree / Genetic linkage analysis / Middle Aged / Genotype / Base Sequence / Linkage Analysis / Female / Male / Polymerase Chain Reaction / Cataract / Pedigree / Genetic linkage analysis / Middle Aged / Genotype / Base Sequence / Linkage Analysis

Familial Chondrodysplasia in Holstein Calves

Denmark / Female / Animals / Male / Pedigree / Cattle / Veterinary Sciences / Cattle / Veterinary Sciences

Clinical genetics of familial progressive supranuclear palsy

Genetics / Dementia / Progressive Supranuclear Palsy / Gait / Brain / Humans / Female / Male / Tremor / Pedigree / Dystonia / Aged / Middle Aged / Spectrum / Adult / Ophthalmoplegia / Humans / Female / Male / Tremor / Pedigree / Dystonia / Aged / Middle Aged / Spectrum / Adult / Ophthalmoplegia

Laryngeal paralysis-polyneuropathy complex in young related Pyrenean mountain dogs

Dogs / Female / Animals / Male / Pedigree / Retrospective Studies / Prognosis / Schwann Cells / Veterinary Sciences / Small Animal Practice / Small / Electrodiagnosis / Veterinary Internal Medicine / Retrospective Studies / Prognosis / Schwann Cells / Veterinary Sciences / Small Animal Practice / Small / Electrodiagnosis / Veterinary Internal Medicine

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 / Male / Endoplasmic Reticulum / Cataract / Pedigree / Zebrafish / Amino Acid Sequence / Golgi Apparatus / Facial Bones / Protein Transport

Molecular Genetic Characterisation of Frontotemporal Dementia on Chromosome 3

Cognitive Science / Dementia / Immunohistochemistry / Molecular Genetics / Denmark / Temporal Lobe / Humans / Child / DNA fingerprinting / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / Frontotemporal Dementia / Disease Progression / Trinucleotide Repeat Disorders / Neurosciences / Frontal Lobe / Temporal Lobe / Humans / Child / DNA fingerprinting / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / Frontotemporal Dementia / Disease Progression / Trinucleotide Repeat Disorders / Neurosciences / Frontal Lobe

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Dementia / Biological Sciences / Humans / Mutation / Pedigree / Frontotemporal Dementia

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

Genetics / Cognitive Science / Dementia / Neurogenetics / Sequence Analysis / Sweden / Cell line / Humans / Mutation / Female / Male / Spontaneous speech / Pedigree / Middle Aged / Frontotemporal Dementia / Degeneration / Base Sequence / Clinical Presentation / Neurosciences / Age of Onset / Age at Onset / Sweden / Cell line / Humans / Mutation / Female / Male / Spontaneous speech / Pedigree / Middle Aged / Frontotemporal Dementia / Degeneration / Base Sequence / Clinical Presentation / Neurosciences / Age of Onset / Age at Onset

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