Pedigree

Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Magnetic Resonance Imaging / Membrane Proteins / Humans / Mutation / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences / Female / Muscular Dystrophies / Male / Muscles / Pedigree / Phenotype / Clinical Sciences / Adult / Annals / Neurosciences

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

Genetics / Regeneration / Humans / Pancreas / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / European / Trisomy 21 / Adult / Prenatal Diagnosis / Developmental delay / Wilms' tumor / Chromosome Banding / Pancreatic islets / Child preschool / Chromosome 22q11 deletion / Male / Infant / Karyotyping / Pedigree / Phenotype / European / Trisomy 21 / Adult / Prenatal Diagnosis / Developmental delay / Wilms' tumor / Chromosome Banding / Pancreatic islets / Child preschool / Chromosome 22q11 deletion

Successful polar body-based preimplantation genetic diagnosis for achondroplasia

Polymorphism / Treatment Outcome / Biopsy / Caesarean Section / Humans / Female / Male / Pedigree / Single Cell / Preimplantation genetic diagnosis / Adult / Reproductive / Fertilization in Vitro / Polar Body / Achondroplasia / Zona Pellucida / Embryos / Female / Male / Pedigree / Single Cell / Preimplantation genetic diagnosis / Adult / Reproductive / Fertilization in Vitro / Polar Body / Achondroplasia / Zona Pellucida / Embryos

Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Genetics / Adolescent / Arterial hypertension / Multidisciplinary / Molecular Mechanics / Signal Transduction / Cortisol / Humans / Child / Mutation / Haplotypes / Female / Male / Hyperplasia / Pedigree / PLoS one / Aged / Middle Aged / Zinc Finger / Adult / DNA binding / Amino Acid Profile / Experimental Validation / Mineralocorticoid Receptor / Glucocorticoids / Signal Transduction / Cortisol / Humans / Child / Mutation / Haplotypes / Female / Male / Hyperplasia / Pedigree / PLoS one / Aged / Middle Aged / Zinc Finger / Adult / DNA binding / Amino Acid Profile / Experimental Validation / Mineralocorticoid Receptor / Glucocorticoids

Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess

Genetics / Adolescent / Arterial hypertension / Multidisciplinary / Molecular Mechanics / Signal Transduction / Cortisol / Humans / Child / Mutation / Haplotypes / Female / Male / Hyperplasia / Pedigree / PLoS one / Aged / Middle Aged / Zinc Finger / Adult / DNA binding / Amino Acid Profile / Experimental Validation / Mineralocorticoid Receptor / Glucocorticoids / Signal Transduction / Cortisol / Humans / Child / Mutation / Haplotypes / Female / Male / Hyperplasia / Pedigree / PLoS one / Aged / Middle Aged / Zinc Finger / Adult / DNA binding / Amino Acid Profile / Experimental Validation / Mineralocorticoid Receptor / Glucocorticoids

Aromatase Deficiency, a Rare Syndrome: Case Report

Rare diseases / Humans / Female / Inborn errors of metabolism / Male / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis / Male Infertility / Pedigree / Gynecomastia / Family Health / Estrogens / Adult / Syndrome / Estradiol / DNA mutational analysis

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 / Human mutation / 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 / Human mutation

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