Pedigree

A visual migraine aura locus maps to 9q21-q22

Cognitive Science / Cartography / Neurology / Finland / Humans / Haplotypes / Genetic Association Studies / Pedigree / Clinical Sciences / Genotype / Sex Factors / Scotoma / Migraine With Aura / Locus / Neurosciences / Neurologic Examination / Haplotypes / Genetic Association Studies / Pedigree / Clinical Sciences / Genotype / Sex Factors / Scotoma / Migraine With Aura / Locus / Neurosciences / Neurologic Examination

Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3

Cognitive Science / Humans / Female / Spinocerebellar ataxia / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Genetic variation / Gaucher Disease / Parkinson Disease / Machado-Joseph Disease / Pedigree / Clinical Sciences / Middle Aged / Adult / Genetic variation / Gaucher Disease / Parkinson Disease / Machado-Joseph Disease

Parkin disease: a phenotypic study of a large case series

Brain / Humans / Mutation / Female / Male / Polymerase Chain Reaction / Mental Disorders / Pedigree / Levodopa / Dystonia / Phenotype / Aged / Middle Aged / Adult / Age of Onset / Polymerase Chain Reaction / Mental Disorders / Pedigree / Levodopa / Dystonia / Phenotype / Aged / Middle Aged / Adult / Age of Onset

ICOS deficiency in patients with common variable immunodeficiency

Immunology / Adolescent / Clinical immunology / Humans / Child / Female / Clinical / Male / Pedigree / T lymphocytes / Genomic DNA / Genotype / Adult / B Lymphocytes / Base Sequence / Autosomal Recessive / Bacterial Infection / Immunoglobulins / Female / Clinical / Male / Pedigree / T lymphocytes / Genomic DNA / Genotype / Adult / B Lymphocytes / Base Sequence / Autosomal Recessive / Bacterial Infection / Immunoglobulins

Síndrome de Andersen-Tawil: una revisión del diagnóstico genético y clínico con énfasis en sus manifestaciones cardíacas

Genetics / Genomics / Molecular Genetics / Humans / Pedigree / Clinical Sciences / Massive Sequencing and Microarray Pdf / Heart Diseases / Clinical Sciences / Massive Sequencing and Microarray Pdf / Heart Diseases

Craniofacial characteristics and genotypes of amelogenesis imperfecta patients

Dentistry / Nonparametric Statistics / Adolescent / Humans / Child / Female / Male / Pedigree / Amelogenin / Facies / Genotype / Vertical Dimension / Base Sequence / Female / Male / Pedigree / Amelogenin / Facies / Genotype / Vertical Dimension / Base Sequence

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

Comparison of clinical characteristics of familial and sporadic acquired accommodative esotropia

Adolescent / Family history / Visual acuity / India / Humans / OCD treatment / Female / Male / Obsessive Compulsive Disorder / Statistical Significance / Young Adult / American / Pedigree / Phenotype / Clinical Sciences / Middle Aged / Adult / Control Group / OCD treatment / Female / Male / Obsessive Compulsive Disorder / Statistical Significance / Young Adult / American / Pedigree / Phenotype / Clinical Sciences / Middle Aged / Adult / Control Group

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

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Humans / Mutation / Clinical / Pedigree / Phenotype / Congenital Adrenal Hyperplasia / Base Sequence / Clinical Investigation / Congenital Adrenal Hyperplasia / Base Sequence / Clinical Investigation

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

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Genetics / Adolescent / Human / DNA / Stroke / Humans / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Humans / Genetic Testing / Female / Male / Pedigree / Clinical Sciences / Middle Aged / Adult / Cohort Studies

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

Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency

Humans / Child / Female / Male / Pedigree / apolipoprotein A-I / Aged / Adult / Particle Size / Coronary heart disease / High Density Lipoprotein / Lipid / Coronary Artery Disease / Two dimensional Gel Electrophoresis / Biochemistry and cell biology / Coronary artery / apolipoprotein A-I / Aged / Adult / Particle Size / Coronary heart disease / High Density Lipoprotein / Lipid / Coronary Artery Disease / Two dimensional Gel Electrophoresis / Biochemistry and cell biology / Coronary artery

Isolated sulfite oxidase deficiency

Ophthalmology / Magnetic Resonance Imaging / Family / Humans / Inborn errors of metabolism / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases / Male / Pedigree / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Public health systems and services research / Seizures / Human Fibroblasts / Autosomal Recessive / Nervous System Diseases

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome

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