Pedigree

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

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

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 / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates

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

A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Magnetic Resonance Imaging / Biological Sciences / Humans / Cerebral Cortex / Haplotypes / Female / Male / Linkage / Genetic determinism / Gene / Pedigree / Phenotype / Gen / X chromosome / Locus / CM / The American / Female / Male / Linkage / Genetic determinism / Gene / Pedigree / Phenotype / Gen / X chromosome / Locus / CM / The American

A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family

Genetics / Human Genetics / Family / China / Transcription Factors / Humans / Mutation / Female / Male / Pedigree / Membrane transport proteins / Adult / Asian Continental Ancestry Group / Amino Acid Sequence / Base Sequence / Humans / Mutation / Female / Male / Pedigree / Membrane transport proteins / Adult / Asian Continental Ancestry Group / Amino Acid Sequence / Base Sequence

Low Back and Common Widespread Pain Share Common Genetic Determinants

Chronic Pain / Low back pain / Software / Humans / Female / Heritability / Pedigree / Body Mass Index / Phenotype / Clinical Sciences / Aged / Great Britain / Annals of Human Genetics / Middle Aged / Questionnaires / Adult / Age Factors / European Continental Ancestry Group / Genetic Correlation / Heritability / Pedigree / Body Mass Index / Phenotype / Clinical Sciences / Aged / Great Britain / Annals of Human Genetics / Middle Aged / Questionnaires / Adult / Age Factors / European Continental Ancestry Group / Genetic Correlation

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

Familial hypercholesterolaemia in Portugal

Genetics / Quality of life / Atherosclerosis / Adolescent / Portugal / Humans / Child / Mutation / Haplotypes / Cholesterol / Female / Blood sampling / Male / Life Expectancy / Pedigree / LDL-cholesterol / Clinical Sciences / Middle Aged / Adult / Coronary heart disease / Chromosome segregation / Indexation / Amino Acid Substitution Rates / Humans / Child / Mutation / Haplotypes / Cholesterol / Female / Blood sampling / Male / Life Expectancy / Pedigree / LDL-cholesterol / Clinical Sciences / Middle Aged / Adult / Coronary heart disease / Chromosome segregation / Indexation / Amino Acid Substitution Rates

Familial Pseudo-Wolff-Parkinson-White Syndrome

Electrocardiography / Humans / Female / Male / Pedigree / Aged / Middle Aged / Adult / Familial Mediterranean Fever / Aged / Middle Aged / Adult / Familial Mediterranean Fever

Lethal congenital erythroderma: a newly recognised genetic disorder

Genetics / Humans / Female / Clinical / Clinical Genetics / Male / Pedigree / Clinical Sciences / Newborn Infant / Consanguinity / Genetic Disorder / Male / Pedigree / Clinical Sciences / Newborn Infant / Consanguinity / Genetic Disorder

Pure interstitial dup(6)(q22.31q22.31) ¿ a case report

Humans / Male / Developmental disabilities / Gene Duplication / Pedigree / Phenotype / Trisomy 21 / Consanguinity / Phenotype / Trisomy 21 / Consanguinity

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

Infantile lethal neuraminidase deficiency (sialidosis)

Genetics / Spleen / Humans / Liver / Female / Clinical Genetics / Infant / Pedigree / Neuraminidase / Clinical Sciences / Clinical Genetics / Infant / Pedigree / Neuraminidase / Clinical Sciences

Familial dyskinesia and facial myokymia (FDFM): A novel movement disorder

Adolescent / Movement disorders / Humans / Child / Female / Male / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Adult / Neurosciences / Movement Disorder / Male / Pedigree / Genetic linkage analysis / Clinical Sciences / Aged / Middle Aged / Adult / Neurosciences / Movement Disorder

Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency

Genetics / Adolescent / Humans / Liver / Female / Inborn errors of metabolism / Male / Jaundice / Bilirubin / Pedigree / Phenotype / Genotype / Adult / Phenobarbital / The American / Bile / Inborn errors of metabolism / Male / Jaundice / Bilirubin / Pedigree / Phenotype / Genotype / Adult / Phenobarbital / The American / Bile

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