Pedigree - Page 9

Molecular Genetics of Septo-Optic Dysplasia

Molecular Biology / Molecular Genetics / Humans / Optic Nerve / Mutation / Mice / Animals / Pedigree / Clinical Sciences / Hormone / DNA binding / Mice / Animals / Pedigree / Clinical Sciences / Hormone / DNA binding

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A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Genetics / Family / Cystic Fibrosis / Humans / Child / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data / Systemic Lupus Erythematosus / Mutation / Variability / Haplotypes / Female / Male / Cohort Study / Developmental disabilities / American / Gene / Pedigree / Phenotype / Clinical Sciences / Gen / Spectrum / Deficiency / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Developmental delay / Deficit / Neurosciences / Founder Effect / Cohort Studies / Molecular Sequence Data

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Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Genetics / Skeletal muscle biology / Human / Mitochondrial DNA / Humans / Female / Cerebellar ataxia / Mitochondrial Respiratory Chain / Electron Transport / Pedigree / Clinical Sciences / Late onset hypogonadism / Adult / Female / Cerebellar ataxia / Mitochondrial Respiratory Chain / Electron Transport / Pedigree / Clinical Sciences / Late onset hypogonadism / Adult

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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

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Case Report Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report

Genetics / Molecular Genetics / Language disorders / Case Report / Humans / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health

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Familial Alzheimer\'s Disease and Vitamin B 12 Deficiency

Psychology / Prospective studies / Humans / Female / Male / Pedigree / Risk factors / Clinical Sciences / Public health systems and services research / Retrospective Studies / Risk Factors / Alzheimer Disease / vitamin B deficiency / Pedigree / Risk factors / Clinical Sciences / Public health systems and services research / Retrospective Studies / Risk Factors / Alzheimer Disease / vitamin B deficiency

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Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra-familial association study in an eight-generation hyperlipidemic kindred

Genetics / Association study / Humans / Female / Male / Plasma / American / Pedigree / Phenotype / Clinical Sciences / Association / Middle Aged / Snp / Adult / Single Nucleotide Polymorphism / Lipoproteins / Growth Hormone Receptor / Genetic variation / Familial Hypercholesterolemia / Codon / Amino Acid Substitution Rates / Variant / Plasma / American / Pedigree / Phenotype / Clinical Sciences / Association / Middle Aged / Snp / Adult / Single Nucleotide Polymorphism / Lipoproteins / Growth Hormone Receptor / Genetic variation / Familial Hypercholesterolemia / Codon / Amino Acid Substitution Rates / Variant

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Apolipoprotein H variant modifies plasma triglyceride phenotype in familial hypercholesterolemia: a molecular study in an eight-generation hyperlipidemic family

Atherosclerosis / Adolescent / Humans / Child / Female / Male / Pedigree / Glycoproteins / Phenotype / Triglycerides / Aged / Middle Aged / Adult / Codon / Male / Pedigree / Glycoproteins / Phenotype / Triglycerides / Aged / Middle Aged / Adult / Codon

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A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

Genetics / Cardiovascular disease / Human / DNA / Humans / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / DNA mutational analysis / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / DNA mutational analysis

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Neonatal Diabetes Mellitus Due to Complete Glucokinase Deficiency

England / Humans / Child / Glucose / Insulin / Glucokinase / Diabetes mellitus / Female / Male / Pedigree / Newborn Infant / New England / New England Journalof Medicine / Glucokinase / Diabetes mellitus / Female / Male / Pedigree / Newborn Infant / New England / New England Journalof Medicine

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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 / DNA mutational analysis / Child preschool / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / DNA mutational analysis / Child preschool

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Characterization of non-expressed C4 genes in a case of complete C4 deficiency: identification of a novel point mutation leading to a premature stop codon

Genetics / Immunology / Polymorphism / Cell line / Humans / Systemic Lupus Erythematosus / Ch / Haplotypes / Female / Male / Blood groups / Polymerase Chain Reaction / Pedigree / Bp / Adult / Major histocompatibility complex / Human Immunology / RFLP / SSCP / Systemic Lupus Erythematosus / Ch / Haplotypes / Female / Male / Blood groups / Polymerase Chain Reaction / Pedigree / Bp / Adult / Major histocompatibility complex / Human Immunology / RFLP / SSCP

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A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

Biological Sciences / Humans / Female / Male / Pedigree / Genetic linkage analysis / Polydactyly / Genotype / Base Sequence / Genetic Markers / Syndactyly / Molecular Sequence Data / Genetic linkage analysis / Polydactyly / Genotype / Base Sequence / Genetic Markers / Syndactyly / Molecular Sequence Data

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Familial Glaucoma Iridogoniodysplasia Maps to a 6p25 Region Implicated in Primary Congenital Glaucoma and Iridogoniodysgenesis Anomaly

Genetics / Cornea / Biological Sciences / Humans / Haplotypes / Glaucoma / Female / Male / Linkage / Pedigree / Phenotype / Genetic linkage analysis / Genetic Recombination / Iris / Genetic Mapping / Microsatellite DNA / Locus / Genetic Markers / Haplotype / The American / Glaucoma / Female / Male / Linkage / Pedigree / Phenotype / Genetic linkage analysis / Genetic Recombination / Iris / Genetic Mapping / Microsatellite DNA / Locus / Genetic Markers / Haplotype / The American

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Hipobetalipoproteinemia familiar: caracterización clínica de una nueva mutación en el gen de la apolipoproteína B

Humans / Mutation / Female / Pedigree / Aged / Middle Aged / Adult / Medicina Clinica / Middle Aged / Adult / Medicina Clinica

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[Sporadic thoracic ectopia cordis: clinical description of a case]

Humans / Female / Thorax / Male / Pedigree / Newborn Infant / Adult / Democratic Republic of the Congo / Newborn Infant / Adult / Democratic Republic of the Congo

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