Pedigree

Familial Segmental Neurofibromatosis

Genetics / Cognitive Science / Humans / Child / Male / Neurofibromatosis / Pedigree / Child Neurology / Clinical Sciences / Melanosis / Neurosciences / Brain Neoplasms / Neurofibromatosis / Pedigree / Child Neurology / Clinical Sciences / Melanosis / Neurosciences / Brain Neoplasms

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

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

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

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Immunohistochemistry / Risk assessment / Heart Failure / Humans / Female / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies / Male / Heart / Differential Diagnosis / Pedigree / Fabry Disease / Middle Aged / Adult / Survival Rate / Prognosis / Disease Progression / Risk Assessment / Cardiomyopathies

Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

Humans / Pulmonary fibrosis / Female / Pedigree / Clinical Sciences / Middle Aged / Adult / Contracture / Tendons / Middle Aged / Adult / Contracture / Tendons

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

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

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Biological Sciences / Humans / Female / Male / Cataract / Pedigree / Phenotype / Middle Aged / Adult / Age Factors / Autosomal Recessive / Genetic Markers / The American / Pedigree / Phenotype / Middle Aged / Adult / Age Factors / Autosomal Recessive / Genetic Markers / The American

Caracterização das manifestações lingüísticas de uma família com Síndrome Perisylviana

Magnetic Resonance Imaging / Speech Disorders / Adolescent / Dyslexia / Humans / Child / Cerebral Cortex / Female / Male / Pedigree / Adult / Learning Disorders / Syndrome / Child / Cerebral Cortex / Female / Male / Pedigree / Adult / Learning Disorders / Syndrome

Familial nephrotic syndrome: Clinical spectrum and linkage to chromosome 19q13

Genetics / Adolescent / Humans / Child / Kidney / Female / Renal failure / Male / Polymerase Chain Reaction / Infant / Pedigree / Genetic linkage analysis / Clinical Sciences / Spectrum / Genomic DNA / Adult / Disease Progression / Renal biopsy / Clinical Presentation / Area of Interest / Linkage Analysis / Nephrotic syndrome / Focal Segmental Glomerulosclerosis / Female / Renal failure / Male / Polymerase Chain Reaction / Infant / Pedigree / Genetic linkage analysis / Clinical Sciences / Spectrum / Genomic DNA / Adult / Disease Progression / Renal biopsy / Clinical Presentation / Area of Interest / Linkage Analysis / Nephrotic syndrome / Focal Segmental Glomerulosclerosis

Presymptomatic diagnosis of myotonic dystrophy

Medical Genetics / Biological Sciences / DNA / Humans / Female / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Pedigree / Genetic linkage analysis / Aged / Middle Aged / Adult / Clinical Data / Base Sequence / Prospective Study / Medical / Male / Polymerase Chain Reaction / Myotonic Dystrophy / Pedigree / Genetic linkage analysis / Aged / Middle Aged / Adult / Clinical Data / Base Sequence / Prospective Study / Medical

Doença granulomatosa crônica autossômica: relato de caso a análise genético-molecular de dois irmãos brasileiros

Polymorphism / Heredity / Genetic counseling / Case Report / Humans / Child / Mutation / Primary Immunodeficiency / Female / Infection / Pneumonia / Male / DNA analysis / Pedigree / NADPH oxidase / Anions / Base Sequence / Clinical Signs / Electrophoretic Mobility / Child / Mutation / Primary Immunodeficiency / Female / Infection / Pneumonia / Male / DNA analysis / Pedigree / NADPH oxidase / Anions / Base Sequence / Clinical Signs / Electrophoretic Mobility

Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference

Genetics / Cognitive Science / Dementia / Magnetic Resonance Imaging / Neuropathology / Molecular Genetics / Poland / Movement disorders / Genetic counseling / Temporal Lobe / Brain / Humans / Mutation / Female / Male / Differential Diagnosis / Electromyography / Life Expectancy / Pedigree / Genetic linkage analysis / Clinical Sciences / North America / Middle Aged / Cognitive impairment / Adult / Frontotemporal Dementia / X ray Computed Tomography / Protein Binding / Psychomotor Disorders / Neurosciences / Frontal Lobe / Parkinson Disease / Cognition disorders / Molecular Genetics / Poland / Movement disorders / Genetic counseling / Temporal Lobe / Brain / Humans / Mutation / Female / Male / Differential Diagnosis / Electromyography / Life Expectancy / Pedigree / Genetic linkage analysis / Clinical Sciences / North America / Middle Aged / Cognitive impairment / Adult / Frontotemporal Dementia / X ray Computed Tomography / Protein Binding / Psychomotor Disorders / Neurosciences / Frontal Lobe / Parkinson Disease / Cognition disorders

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

Genetics / Pakistan / Adolescent / Libya / Osteoporosis / Humans / Female / Male / Young Adult / Infant / American / Pedigree / Physical chromosome mapping / Clinical Sciences / Adult / Consanguinity / Skin Aging / Humans / Female / Male / Young Adult / Infant / American / Pedigree / Physical chromosome mapping / Clinical Sciences / Adult / Consanguinity / Skin Aging

A Major Gene Effect Controls Resistance to Caries

Genetics / Dentistry / Genetic Epidemiology / Brazil / Adolescent / Linear models / Humans / Brazilian Amazon / Female / Dental Caries / Male / Young Adult / Dental / Pedigree / Risk factors / Middle Aged / Observer Variation / Adult / Risk Factors / Linear models / Humans / Brazilian Amazon / Female / Dental Caries / Male / Young Adult / Dental / Pedigree / Risk factors / Middle Aged / Observer Variation / Adult / Risk Factors

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