Pedigree

A case of partial deficiency of alpha 1-antichymotrypsin

Clinical Chemistry / Humans / Medical Biotechnology / Female / Pedigree / Clinical Sciences / Aged / Middle Aged / Adult / Reference Values / Pseudotumor Cerebri / Chymotrypsin / Clinical Sciences / Aged / Middle Aged / Adult / Reference Values / Pseudotumor Cerebri / Chymotrypsin

Muscular dystrophy due to dysferlin deficiency in Libyan Jews: Clinical and genetic features

Genetics / Skeletal muscle biology / Membrane Proteins / Limb Girdle Muscular Dystrophy / Biopsy / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult / Libya / Brain / Humans / Muscular Dystrophy / Female / Muscular Dystrophies / Male / Jews / Electromyography / Pedigree / Hypertrophy / Creatine Kinase / Middle Aged / Family Health / Adult

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

Kantaputra mesomelic dysplasia: A second reported family

Genetics / Adolescent / Humans / Female / Male / Pedigree / Phenotype / Clinical Sciences / Middle Aged / Carpal Bones / Body Height / Ankle / Syndrome / Pedigree / Phenotype / Clinical Sciences / Middle Aged / Carpal Bones / Body Height / Ankle / Syndrome

PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

RNA / Immunohistochemistry / Confocal Microscopy / DNA / Humans / Child / Female / Male / Infant / American / Skin / Pedigree / Family Health / Calcinosis / Human Fibroblasts / Diphosphates / Extracellular Space / Child / Female / Male / Infant / American / Skin / Pedigree / Family Health / Calcinosis / Human Fibroblasts / Diphosphates / Extracellular Space

Kantaputra mesomelic dysplasia: A second reported family

Genetics / Adolescent / Humans / Female / Male / Pedigree / Phenotype / Clinical Sciences / Middle Aged / Carpal Bones / Body Height / Ankle / Syndrome / Pedigree / Phenotype / Clinical Sciences / Middle Aged / Carpal Bones / Body Height / Ankle / Syndrome

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

Humans / Child / Female / Muscular Dystrophies / Male / Medical Physiology / Pedigree / Phenotype / Genetic linkage analysis / Clinical Sciences / Introns / Neuromuscular Disorders / HeLa cells / Genetic Polymorphism / Transfection / Neurosciences / Medical Physiology / Pedigree / Phenotype / Genetic linkage analysis / Clinical Sciences / Introns / Neuromuscular Disorders / HeLa cells / Genetic Polymorphism / Transfection / Neurosciences

X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping

Adolescent / Humans / Haplotypes / Female / Male / Genetic Map / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / X chromosome / Neurosciences / Genetic Map / Pedigree / Genetic linkage analysis / Clinical Sciences / Adult / X chromosome / Neurosciences

Mutaciones de AIP en adenomas hipofisarios familiares y esporádicos: experiencia local y revisión de la literatura

Humans / Mutation / Female / Young Adult / Pedigree / Phenotype / Middle Aged / Pituitary Adenoma / Adenoma / Phenotype / Middle Aged / Pituitary Adenoma / Adenoma

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

Brain / Humans / Mutation / Female / Male / Pedigree / Clinical Sciences / Haloperidol / Aged / Middle Aged / Annals / Lymphocytes / DNA binding proteins / Neurosciences / Opipramol / Pedigree / Clinical Sciences / Haloperidol / Aged / Middle Aged / Annals / Lymphocytes / DNA binding proteins / Neurosciences / Opipramol

Familial partial monosomy 7 and myelodysplasia

Cancer Genetics / Acute Myeloid Leukemia / Humans / Child / Myelodysplastic Syndrome / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult / Mutation / Female / Pedigree / Bone Marrow Transplantation / Tumor Suppressor Gene / Adult

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia

Genetics / Magnetic Resonance Imaging / Turkey / Membrane Proteins / Intellectual Disability / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome / Gene expression / Brain / Pregnancy / Humans / Female / Male / Gene Order / Infant / Pedigree / Phenotype / Clinical Sciences / Facies / Consanguinity / Bone and Bones / Pregnancy Outcome / Exome

Familial tranmission of genitovaginal prolapse

Genetics / Family / Family history / Birth Weight / Pelvic Organ Prolapse / Humans / Female / Urogynecology / Pedigree / Risk factors / Vagina / Aged / Middle Aged / Adult / Risk Factors / Prolapse / General Population / Cohort Studies / Relative Risk / Humans / Female / Urogynecology / Pedigree / Risk factors / Vagina / Aged / Middle Aged / Adult / Risk Factors / Prolapse / General Population / Cohort Studies / Relative Risk

Familial posterior helical ear pits

Genetics / Morphogenesis / Humans / Female / Male / Pedigree / Clinical Sciences / Ear / Congenital abnormalities / Pedigree / Clinical Sciences / Ear / Congenital abnormalities

High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

Risk / Biological Sciences / High Frequency / Humans / American / Pedigree / Genotype / Pedigree / Genotype

Placental Mesenchymal Dysplasia Associated with Transient Neonatal Diabetes Mellitus and Paternal UPD6

Fathers / Pregnancy / Humans / Diabetes mellitus / Placenta / Female / Male / Pedigree / Clinical Sciences / Newborn Infant / Adult / Time Factors / Uniparental disomy / Female / Male / Pedigree / Clinical Sciences / Newborn Infant / Adult / Time Factors / Uniparental disomy

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