Pedigree

Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

China / Gait / Brain / Humans / Female / Spinocerebellar ataxia / Male / Proteins / Pedigree / Levodopa / Clinical Sciences / Aged / Middle Aged / Single Photon Emission Computed Tomography / Adult / Annals / Neurosciences / Spinocerebellar ataxia / Male / Proteins / Pedigree / Levodopa / Clinical Sciences / Aged / Middle Aged / Single Photon Emission Computed Tomography / Adult / Annals / Neurosciences

A Molecular Protocolfor DiagnosingMyotonic Dystrophy

Clinical Chemistry / Humans / Medical Biotechnology / Female / Clinical / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Pedigree / Phenotype / Clinical Sciences / Aged / Middle Aged / Adult / Base Sequence / DNA probes / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Pedigree / Phenotype / Clinical Sciences / Aged / Middle Aged / Adult / Base Sequence / DNA probes

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

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

Genetics / Polymorphism / Humans / Haplotypes / Female / Male / American / Pedigree / Phenotype / Clinical Sciences / Aged / Middle Aged / Adult / Quantitative Trait Loci / Genetic Markers / Male / American / Pedigree / Phenotype / Clinical Sciences / Aged / Middle Aged / Adult / Quantitative Trait Loci / Genetic Markers

[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases]

Genetics / Rheumatology / Immunology / Inflammation / Adolescent / Biological Sciences / DNA / Osteoporosis / Humans / Child / Mutation / Haplotypes / Female / Male / Alternative splicing / Monoclonal Antibodies / Netherlands / Fever of Unknown Origin / Differential Diagnosis / Pedigree / Phenotype / Ethnic Groups / Skin Diseases / Recurrence / Clinical Sciences / Alendronate / Introns / Middle Aged / Family Health / Adult / Fever / Public health systems and services research / Immunophenotyping / Combination drug therapy / Alternative Splicing / Amino Acid Sequence / Base Sequence / Syndrome / Amyloidosis / immunoglobulin G / Familial Mediterranean Fever / Etanercept / Biological Sciences / DNA / Osteoporosis / Humans / Child / Mutation / Haplotypes / Female / Male / Alternative splicing / Monoclonal Antibodies / Netherlands / Fever of Unknown Origin / Differential Diagnosis / Pedigree / Phenotype / Ethnic Groups / Skin Diseases / Recurrence / Clinical Sciences / Alendronate / Introns / Middle Aged / Family Health / Adult / Fever / Public health systems and services research / Immunophenotyping / Combination drug therapy / Alternative Splicing / Amino Acid Sequence / Base Sequence / Syndrome / Amyloidosis / immunoglobulin G / Familial Mediterranean Fever / Etanercept

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

Lebanon / Biological Sciences / Humans / Female / Male / Human Molecular Genetics / Infant / Pedigree / Deafness / Consanguinity / Base Sequence / Genetic Markers / Human Molecular Genetics / Infant / Pedigree / Deafness / Consanguinity / Base Sequence / Genetic Markers

Tau is a candidate gene for chromosome 17 frontotemporal dementia

Dementia / Temporal Lobe / Humans / Female / Male / Pedigree / Genetic linkage analysis / Clinical Sciences / Family Health / Frontotemporal Dementia / Annals / Neurosciences / Frontal Lobe / Pedigree / Genetic linkage analysis / Clinical Sciences / Family Health / Frontotemporal Dementia / Annals / Neurosciences / Frontal Lobe

Autosomal dominant gigantiform cementoma associated with bone fractures

Genetics / Polymorphism / Family / Fracture / Gene expression / Genetic Diversity / Humans / Variability / Male / American / Pedigree / Clinical Sciences / Association / Middle Aged / Adult / Bone fracture / Genetic Diversity / Humans / Variability / Male / American / Pedigree / Clinical Sciences / Association / Middle Aged / Adult / Bone fracture

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

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

Familial cramp due to potassium-aggravated myotonia

Neurology / Skeletal muscle biology / Molecular Genetics / Humans / Potassium / Electromyography / Pedigree / Phenotype / Skeletal Muscle / Adult / Sodium channel / Potassium Channels / Electromyography / Pedigree / Phenotype / Skeletal Muscle / Adult / Sodium channel / Potassium Channels

Chronic urticaria: new immunologic aspects

Mast Cells / Humans / Autoimmune diseases / Chronic Disease / Pedigree / Prevalence / Urticaria / Autoantibodies / Prevalence / Urticaria / Autoantibodies

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC

Genetics / Polymorphism / Colorectal cancer / Biological Sciences / Humans / Mutation / Europe / Female / Male / Polymerase Chain Reaction / Jews / Pedigree / Risk Factor / Adult / Ethnic Group / Adenomatous Polyposis-coli / Codon / Base Sequence / Mutation / Europe / Female / Male / Polymerase Chain Reaction / Jews / Pedigree / Risk Factor / Adult / Ethnic Group / Adenomatous Polyposis-coli / Codon / Base Sequence

Familial XX chromosomal maleness does not arise from a Y chromosomal translocation

Pediatrics / DNA / Humans / Female / Male / Disorders of sex development / Y chromosome / Pedigree / X chromosome / DNA probes / Disorders of sex development / Y chromosome / Pedigree / X chromosome / DNA probes

Familial visceral myopathy associated with a mitochondrial myopathy

Mitochondrial DNA / Humans / Male / Pedigree / Clinical Sciences / Adult / Gut / Base Sequence / Duodenum / Adult / Gut / Base Sequence / Duodenum

Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

China / Gait / Brain / Humans / Female / Spinocerebellar ataxia / Male / Proteins / Pedigree / Levodopa / Clinical Sciences / Aged / Middle Aged / Single Photon Emission Computed Tomography / Adult / Annals / Neurosciences / Spinocerebellar ataxia / Male / Proteins / Pedigree / Levodopa / Clinical Sciences / Aged / Middle Aged / Single Photon Emission Computed Tomography / Adult / Annals / Neurosciences

«
1
2
3
4
5
6
»

Copyright © 2017 DADOSPDF Inc.