Genetic counseling

Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

Argentina / Heterogeneity / Biological Sciences / Genetic counseling / Humans / Mutation / Polymerase Chain Reaction / Exploration / Pigments / Pigment / Photosensitivity / Long Range / Genetic determinism / Skin / Gene / Phenotype / Hemochromatosis / Introns / Risk Factor / Gen / Genotype / Uroporphyrinogen Decarboxylase / Base Sequence / Amino Acid Substitution Rates / Recombinant Proteins / Site-directed Mutagenesis / Haplotype / The American / Molecular Sequence Data / Mutation / Polymerase Chain Reaction / Exploration / Pigments / Pigment / Photosensitivity / Long Range / Genetic determinism / Skin / Gene / Phenotype / Hemochromatosis / Introns / Risk Factor / Gen / Genotype / Uroporphyrinogen Decarboxylase / Base Sequence / Amino Acid Substitution Rates / Recombinant Proteins / Site-directed Mutagenesis / Haplotype / The American / Molecular Sequence Data

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Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles

Argentina / Heterogeneity / Biological Sciences / Genetic counseling / Humans / Mutation / Polymerase Chain Reaction / Exploration / Pigments / Pigment / Photosensitivity / Long Range / Genetic determinism / Skin / Gene / Phenotype / Hemochromatosis / Introns / Risk Factor / Gen / Genotype / Uroporphyrinogen Decarboxylase / Base Sequence / Amino Acid Substitution Rates / Recombinant Proteins / Site-directed Mutagenesis / Haplotype / The American / Molecular Sequence Data / Mutation / Polymerase Chain Reaction / Exploration / Pigments / Pigment / Photosensitivity / Long Range / Genetic determinism / Skin / Gene / Phenotype / Hemochromatosis / Introns / Risk Factor / Gen / Genotype / Uroporphyrinogen Decarboxylase / Base Sequence / Amino Acid Substitution Rates / Recombinant Proteins / Site-directed Mutagenesis / Haplotype / The American / Molecular Sequence Data

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Prenatal diagnosis of Neu-Laxova syndrome: a case report

Bioinformatics / Nursing / Life Sciences / Ultrasound / Genetic counseling / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction

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Prenatal diagnosis of Neu-Laxova syndrome: a case report

Bioinformatics / Nursing / Life Sciences / Ultrasound / Genetic counseling / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction / Medical History / Case Report / Biomedical Research / Public health systems and services research / Prenatal Diagnosis / Soft Tissue / Autosomal Recessive / Congenital abnormalities / Early Diagnosis / Intrauterine Growth Restriction

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Sudden death associated to vascular Ehlers–Danlos syndrome. A case report

Genetics / Forensic Pathology / Genetic counseling / Sudden Death / Case Report / Humans / Genetic Testing / Female / Clinical Sciences / Legal Medicine / Middle Aged / Peripheral Vascular Disease / Ehlers-Danlos Syndrome / Clinical Diagnosis / Humans / Genetic Testing / Female / Clinical Sciences / Legal Medicine / Middle Aged / Peripheral Vascular Disease / Ehlers-Danlos Syndrome / Clinical Diagnosis

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Pacientes con criterios clínicos de síndrome de Lynch con y sin mutación en genes reparadores del ADN ( MLH1 y MSH2). Un reto para el clínico

DNA repair / Colorectal cancer / Spain / Genetic counseling / Humans / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma

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Pacientes con criterios clínicos de síndrome de Lynch con y sin mutación en genes reparadores del ADN (MLH1 y MSH2). Un reto para el clínico

DNA repair / Colorectal cancer / Spain / Genetic counseling / Humans / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma / Mutation / Female / Male / Phenotype / Aged / Middle Aged / Lynch syndrome / Retrospective Studies / Medicina Clinica / Cross Sectional Studies / Age of Onset / Adenocarcinoma

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FUNDAMENTOS CLÍNICOS DEL CONSEJO GENÉTICO EN CÁNCER HEREDITARIO

Genetics / Informed Consent / Genetic counseling / Clinical Practice / Genetic Testing / Cancer Risk / Psicooncología / Cancer Risk / Psicooncología

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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

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Maternal transmission in sporadic Huntington\'s disease

Neurology / Genetic counseling / Humans / genetic Counselling / Male / Polymerase Chain Reaction / Adult / Huntington disease / Family Study / Polymerase Chain Reaction / Adult / Huntington disease / Family Study

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Fundamentos clínicos del consejo genético en cáncer hereditario

Genetics / Informed Consent / Genetic counseling / Clinical Practice / Genetic Testing / Psicooncologia / Cancer Risk / Psicooncologia / Cancer Risk

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Comentarios a la guía de práctica clínica de la ESC sobre prevención de la enfermedad cardiovascular (versión 2012). Un informe del Grupo de Trabajo del Comité de Guías de Práctica Clínica de la Sociedad Española de Cardiología

Algorithms / Cardiology / Risk assessment / Lactation / Electrocardiography / Spain / Genetic counseling / Heart Failure / Pregnancy / Humans / Ischemia / Female / Advisory Committees / Myocardial Revascularization / Case Management / Anticoagulants / Risk factors / Newborn Infant / Acute Coronary Syndrome / Cardiac Arrhythmias / Adult / Prognosis / Cardiovascular Diseases / Risk Factors / Risk Assessment / Implantable defibrillators-cardioverters / Upper Extremity / Renal Artery / Mesenteric Arteries / Lower Extremity / Peripheral Arterial Disease / Thoracic Surgery / Primary Prevention / Spain / Genetic counseling / Heart Failure / Pregnancy / Humans / Ischemia / Female / Advisory Committees / Myocardial Revascularization / Case Management / Anticoagulants / Risk factors / Newborn Infant / Acute Coronary Syndrome / Cardiac Arrhythmias / Adult / Prognosis / Cardiovascular Diseases / Risk Factors / Risk Assessment / Implantable defibrillators-cardioverters / Upper Extremity / Renal Artery / Mesenteric Arteries / Lower Extremity / Peripheral Arterial Disease / Thoracic Surgery / Primary Prevention

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Comentarios a la guía de práctica clínica de la ESC para el tratamiento de las enfermedades cardiovasculares durante el embarazo. Una visión crítica desde la cardiología española

Algorithms / Cardiology / Risk assessment / Lactation / Electrocardiography / Spain / Genetic counseling / Heart Failure / Pregnancy / Humans / Ischemia / Female / Advisory Committees / Myocardial Revascularization / Case Management / Anticoagulants / Risk factors / Newborn Infant / Acute Coronary Syndrome / Cardiac Arrhythmias / Adult / Prognosis / Cardiovascular Diseases / Risk Factors / Risk Assessment / Implantable defibrillators-cardioverters / Upper Extremity / Renal Artery / Mesenteric Arteries / Lower Extremity / Peripheral Arterial Disease / Thoracic Surgery / Primary Prevention / Spain / Genetic counseling / Heart Failure / Pregnancy / Humans / Ischemia / Female / Advisory Committees / Myocardial Revascularization / Case Management / Anticoagulants / Risk factors / Newborn Infant / Acute Coronary Syndrome / Cardiac Arrhythmias / Adult / Prognosis / Cardiovascular Diseases / Risk Factors / Risk Assessment / Implantable defibrillators-cardioverters / Upper Extremity / Renal Artery / Mesenteric Arteries / Lower Extremity / Peripheral Arterial Disease / Thoracic Surgery / Primary Prevention

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Succinic Semialdehyde Dehydrogenase Deficiency: GABAB receptor-mediated function

Cognitive Science / Genetic counseling / Mental Retardation / Brain / Mice / Animals / Animal Model / Differential Diagnosis / Synaptic Transmission / Time Dependent / Protein Expression / Autosomal Recessive / Brain Chemistry / Neurosciences / Binding Site / Gamma-Aminobutyric Acid / Knock Out Mice / Animals / Animal Model / Differential Diagnosis / Synaptic Transmission / Time Dependent / Protein Expression / Autosomal Recessive / Brain Chemistry / Neurosciences / Binding Site / Gamma-Aminobutyric Acid / Knock Out Mice

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Maternal transmission in sporadic Huntington\'s disease

Neurology / Genetic counseling / Humans / genetic Counselling / Male / Polymerase Chain Reaction / Adult / Huntington disease / Family Study / Polymerase Chain Reaction / Adult / Huntington disease / Family Study

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Familial deletion 18p syndrome: case report

Genetics / Intellectual Disability / Genetic counseling / Mental Retardation / Case Report / Humans / Child / Female / Karyotyping / Cognitive Performance / Clinical Sciences / Cognitive impairment / Short stature / Intelligence tests / Syndrome / Humans / Child / Female / Karyotyping / Cognitive Performance / Clinical Sciences / Cognitive impairment / Short stature / Intelligence tests / Syndrome

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