Genetic Testing

Recomendaciones para el estudio genético de la pareja con alteraciones en la reproducción

Genetics / Family history / Medical History / Genetic Testing / genetic Counselling / Semen Analysis / Y chromosome / Laboratorio / DNA fragmentation / Semen Analysis / Y chromosome / Laboratorio / DNA fragmentation

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction

Genetics / Pregnancy / Humans / qPCR / Genetic Testing / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction

Síndrome de Rendu-Osler-Weber o Telangiectasia Hemorrágica Hereditaria (HHT): Descripción de dos casos y revisión de la literatura

Dentistry / Family history / Genetic Testing / Oral Cavity / Clinical Signs / Clinical Diagnosis

Low peripheral plasma renin activity as a critical marker in pediatric hypertension

Family history / Humans / Child / Hypertension / Genetic Testing / Female / Pediatric Nephrology / Gene Duplication / Children and Adolescents / Biological markers / Hyperaldosteronism / Female / Pediatric Nephrology / Gene Duplication / Children and Adolescents / Biological markers / Hyperaldosteronism

An Unstable Trinucleotide-Repeat Region on Chromosome 13 Implicated in Spinocerebellar Ataxia: A Common Expansion Locus

Christianity / Schizophrenia / Bipolar Disorder / Borderline Personality Disorder / Biological Sciences / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American / Humans / Genetic Testing / Female / Spinocerebellar ataxia / Male / Depressive Disorder / Pedigree / Genetic linkage analysis / Molecular cloning / Adult / Reproducibility of Results / Trinucleotide Repeat Disorders / The American

Xenopus as a model organism in developmental chemical genetic screens

Cell Division / Genetic Testing / Animals / Phenotype / Xenopus laevis / Biochemistry and cell biology

Recomendaciones para el estudio genético de la pareja con alteraciones en la reproducción

Genetics / Family history / Medical History / Genetic Testing / genetic Counselling / Semen Analysis / Y chromosome / Laboratorio / DNA fragmentation / Semen Analysis / Y chromosome / Laboratorio / DNA fragmentation

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion

Mitochondria / Biological Sciences / Pregnancy / Mitochondrial DNA / Genetic Testing / Mutation / Placenta / Mice / Female / Animals / Embryonic Stem Cells / Phenotype / Human Fibroblasts / Mutation / Placenta / Mice / Female / Animals / Embryonic Stem Cells / Phenotype / Human Fibroblasts

Comparative genetic analysis of trichome-less and normal pod genotypes of Mucuna pruriens (Fabaceae)

Genetics / Molecular Genetics / Genetic Testing / Levodopa / Genotype / Seeds / Mucuna / Seeds / Mucuna

Incidencia de las pruebas genéticas en los contratos de seguros

Insurance Law / Genetic Testing / Life Insurance

Complete Androgen Insensitivity Syndrome

Humans / Genetic Testing / Female / Male / Young Adult / Karyotyping / Differential Diagnosis / Optometry and Ophthalmology / Androgen Insensitivity Syndrome / Karyotyping / Differential Diagnosis / Optometry and Ophthalmology / Androgen Insensitivity Syndrome

¿Qué estrategia de cribado debe recomendarse a los familiares de un paciente diagnosticado de cáncer colorrectal?

Gastroenterology / Risk / Humans / Genetic Testing / Colonoscopy / Family Health / Colorectal Neoplasms / Family Health / Colorectal Neoplasms

Altered Beta-2 Adrenergic Receptor Gene Expression in Human Clinical Hypertension

Nursing / Nonparametric Statistics / Gene expression / Family history / Multivariate Analysis / Humans / Hypertension / Genetic Testing / Female / Florida / Male / Phenotype / Middle Aged / Sympathetic Nervous System / Coronary artery bypass surgery / Type 2 Diabetes Mellitus / Quantitative Method / Clinical Nursing Research / Case Control Studies / Coronary artery / Humans / Hypertension / Genetic Testing / Female / Florida / Male / Phenotype / Middle Aged / Sympathetic Nervous System / Coronary artery bypass surgery / Type 2 Diabetes Mellitus / Quantitative Method / Clinical Nursing Research / Case Control Studies / Coronary artery

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / DNA mutational analysis / Child preschool / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / DNA mutational analysis / Child preschool

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

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

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