Clinical Genetics

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Genetics / Ethics / Human Genetics / Informed Consent / Molecular Genetics / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials

Download

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

Genetics / Molecular Biology / Humans / Kidney / Female / Clinical Genetics / Infant / Gene Duplication / Deafness / Clinical Sciences / Newborn Infant / Syndrome / Hypoparathyroidism / Clinical Genetics / Infant / Gene Duplication / Deafness / Clinical Sciences / Newborn Infant / Syndrome / Hypoparathyroidism

Download

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases

Genetics / Intellectual Disability / Humans / Female / Clinical Genetics / Male / Infant / Cryptorchidism / Clinical Sciences / Scoliosis / Syndrome / Skin Neoplasms / Male / Infant / Cryptorchidism / Clinical Sciences / Scoliosis / Syndrome / Skin Neoplasms

Download

Infantile lethal neuraminidase deficiency (sialidosis)

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

Download

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

Genetics / Cognitive Science / Pediatrics / Transcranial Magnetic Stimulation / Neurogenetics / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet

Download

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

Genetics / Aging / Adolescent / Humans / Child / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies

Download

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Genetics / Ethics / Human Genetics / Informed Consent / Molecular Genetics / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials

Download

Craniofrontonasal dysplasia: Genetic heterogeneity?

Genetics / Humans / Female / Clinical Genetics / Male / Clinical Sciences / Nose / Clinical Sciences / Nose

Download

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

Download

Infantile lethal neuraminidase deficiency (sialidosis)

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

Download

Cancer genetics: colorectal cancer as a model

Genetics / Genetic Epidemiology / Human Genetics / Genomics / Population Genetics / Molecular Genetics / Epigenetics / Low Frequency / Cytogenetics / Humans / Methylation / Pharmacogenetics / Clinical Genetics / Clinical Sciences / Human Genome / Genomic instability / Genetic variation / Adenoma / Cumulant / Colorectal Neoplasms / Molecular Genetics / Epigenetics / Low Frequency / Cytogenetics / Humans / Methylation / Pharmacogenetics / Clinical Genetics / Clinical Sciences / Human Genome / Genomic instability / Genetic variation / Adenoma / Cumulant / Colorectal Neoplasms

Download

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

Genetics / Aging / Adolescent / Humans / Child / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Child preschool / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Child preschool

Download

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

Download

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

Download

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I

Genetics / Aging / Adolescent / Humans / Child / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Child preschool / Kidney / Female / Clinical / Clinical Genetics / Genetic Association Studies / Young Adult / Infant / Proteins / Clinical Sciences / Middle Aged / Adult / Cohort Studies / Child preschool

Download