Genetic counseling

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Genetic counseling / Humans / Mutation / Male / Hyperuricemia / Uric Acid / Spectrum / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Uric Acid / Spectrum / Prenatal Diagnosis / X chromosome / Molecular Diagnosis

Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

Genetics / Genetic counseling / Humans / genetic Counselling / Female / Siblings / Karyotyping / Gene Duplication / European / Fluorescent in situ hybridization / Mosaicism / Germ Cell / Growth Retardation / Siblings / Karyotyping / Gene Duplication / European / Fluorescent in situ hybridization / Mosaicism / Germ Cell / Growth Retardation

Diagnóstico molecular del retinoblastoma: epidemiología molecular y consejo genético

Molecular Epidemiology / Genetic counseling / Humans / Child / Mutation / genetic Counselling / Female / Male / Pedigree / Retinoblastoma / Medicina Clinica / retinoblastoma protein (RB1). / genetic Counselling / Female / Male / Pedigree / Retinoblastoma / Medicina Clinica / retinoblastoma protein (RB1).

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

Cognitive Science / Cuba / Genetic counseling / Humans / Cerebellum / Animals / Spinocerebellar ataxia / Cerebellar ataxia / Incidence / Phenotype / Peripheral Neuropathy / Neuronal Death / Neurosciences / Purkinje cell / Animals / Spinocerebellar ataxia / Cerebellar ataxia / Incidence / Phenotype / Peripheral Neuropathy / Neuronal Death / Neurosciences / Purkinje cell

Frecuencia de la hemoglobina S en cinco poblaciones mexicanas y su importancia en la salud pública

Sickle Cell Anemia / Informed Consent / Public Health / Genetic counseling / High Frequency / Public health systems and services research

Anticoncepción, embarazo y enfermedades respiratorias minoritarias

Contraception / Cystic Fibrosis / Risk / Pulmonary Hypertension / Genetic counseling / Pregnancy / Humans / Survivors / Female / Life Expectancy / High risk pregnancy / Clinical Sciences / Newborn Infant / Preimplantation genetic diagnosis / Cesarean Section / Heart and Lung Transplantation / Prenatal Care / Pregnancy / Humans / Survivors / Female / Life Expectancy / High risk pregnancy / Clinical Sciences / Newborn Infant / Preimplantation genetic diagnosis / Cesarean Section / Heart and Lung Transplantation / Prenatal Care

PICOGEN: Five years experience with a genetic counselling program for dementia | PICOGEN: experiencia de 5 años de un programa de asesoramiento genético en demencia

Program Evaluation / Dementia / Genetic counseling / Humans / genetic Counselling / Genetic Screening / Neurologia / Aged / Middle Aged / Adult / Prion disease / Time Factors / Alzheimer Disease / Neurología / Genetic Screening / Neurologia / Aged / Middle Aged / Adult / Prion disease / Time Factors / Alzheimer Disease / Neurología

Adaptación cultural y validación de la versión española de la Escala de Autoconcepto en BRCA en portadoras con alto riesgo de cáncerde mama y ovario hereditario

Positive Psychology / Psychooncology / Genetic counseling

Prophylactic oophorectomy in Ontario

Breast Cancer / Ovarian Cancer / Family history / Genetic counseling / Humans / Female / Incidence / Ontario / Risk factors / Aged / Middle Aged / International Classification of Diseases / Adult / Risk Factors / Medical Records / Prevention of Surgical Complication / Cancer Risk / Ovariectomy / Female / Incidence / Ontario / Risk factors / Aged / Middle Aged / International Classification of Diseases / Adult / Risk Factors / Medical Records / Prevention of Surgical Complication / Cancer Risk / Ovariectomy

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

Information, risk perception and anxiety prior to genetic counseling in hereditary cancer | Información, percepción de riesgo y ansiedad antes de recibir consejo genético en predisposición hereditaria al cáncer

Breast Cancer / Family history / Colorectal cancer / Genetic counseling / Enfermería clinica / Cancer Risk

Congenital adrenal hyperplasia clinical characteristics and genotype in newborn, childhood and adolescence

Molecular Genetics / Adolescent / Genetic counseling / Humans / Child / Mutation / Medicina / Female / Male / Infant / Follow-up studies / Gene Conversion / Phenotype / Newborn Infant / Genotype / Congenital Adrenal Hyperplasia / Enzymatic Activity / Mutation / Medicina / Female / Male / Infant / Follow-up studies / Gene Conversion / Phenotype / Newborn Infant / Genotype / Congenital Adrenal Hyperplasia / Enzymatic Activity

Prophylactic oophorectomy in Ontario

Breast Cancer / Ovarian Cancer / Family history / Genetic counseling / Humans / Female / Incidence / Ontario / Risk factors / Aged / Middle Aged / International Classification of Diseases / Adult / Risk Factors / Medical Records / Prevention of Surgical Complication / Cancer Risk / Ovariectomy / Laparotomy / Female / Incidence / Ontario / Risk factors / Aged / Middle Aged / International Classification of Diseases / Adult / Risk Factors / Medical Records / Prevention of Surgical Complication / Cancer Risk / Ovariectomy / Laparotomy

Genética de la muerte súbita inexplicada

Genetics / Genetic counseling / Sudden Death / Humans / Long QT syndrome / Autopsy / Family Health / Patient Care Team / Sudden Cardiac Death / Medicina Clinica / Translational Medical Research / Autopsy / Family Health / Patient Care Team / Sudden Cardiac Death / Medicina Clinica / Translational Medical Research

Anticoncepción, embarazo y enfermedades respiratorias minoritarias

Contraception / Cystic Fibrosis / Risk / Pulmonary Hypertension / Genetic counseling / Pregnancy / Humans / Survivors / Female / Life Expectancy / High risk pregnancy / Clinical Sciences / Newborn Infant / Preimplantation genetic diagnosis / Cesarean Section / Heart and Lung Transplantation / Prenatal Care / Pregnancy / Humans / Survivors / Female / Life Expectancy / High risk pregnancy / Clinical Sciences / Newborn Infant / Preimplantation genetic diagnosis / Cesarean Section / Heart and Lung Transplantation / Prenatal Care

Hemihyperplasia syndromes

Adolescent / Genetic counseling / Humans / Child / Female / Male / Infant / Ehlers-Danlos Syndrome / Boolean Satisfiability / Syndrome / Extremities / Diagnostic Criteria / Child preschool / Male / Infant / Ehlers-Danlos Syndrome / Boolean Satisfiability / Syndrome / Extremities / Diagnostic Criteria / Child preschool

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