Prenatal Diagnosis

Holoacardius: antenatal diagnosis and pathogenetic evaluation: a case report

Screening / Twins / Pregnancy / Humans / Ultrasonography / Female / Foetus / Adult / Prenatal Diagnosis / Fetus / Female / Foetus / Adult / Prenatal Diagnosis / Fetus

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Endocrinology / Nutrition / Molecular Biology / Treatment / Pregnancy / Humans / Mutation / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Congenital Adrenal Hyperplasia / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit / Humans / Mutation / Female / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Congenital Adrenal Hyperplasia / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit

Increased nuchal translucency and foetal aortic incompetence due to a dysplastic bicuspid valve

Clinical Sciences / Prenatal Diagnosis

Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases

Genetics / Magnetic Resonance Imaging / DNA / Brain / Pregnancy / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence / Child preschool / Humans / Female / American / Clinical Sciences / Newborn Infant / Consanguinity / Prenatal Diagnosis / Peroxisomes / Base Sequence / Child preschool

Masas quísticas expansivas en tórax y abdomen en un feto: Tratamiento mininvasivo posnatal

Prenatal Diagnosis / Archivos Argentinos De Pediatria

Masas quísticas expansivas en tórax y abdomen en un feto: Tratamiento mininvasivo posnatal

Prenatal Diagnosis / Archivos Argentinos De Pediatria

Primary cellular immunodeficiencies

Genetics / Immunology / Gene Therapy / Treatment / Stem Cell / Primary / Genetic counseling / Humans / Cord Blood / Classification / T lymphocytes / Spectrum / Bone Marrow Transplantation / Prenatal Diagnosis / Life Span / DiGeorge Syndrome / Immunoglobulin / Severe combined immunodeficiency / Clinical Allergy and Immunology / Primary / Genetic counseling / Humans / Cord Blood / Classification / T lymphocytes / Spectrum / Bone Marrow Transplantation / Prenatal Diagnosis / Life Span / DiGeorge Syndrome / Immunoglobulin / Severe combined immunodeficiency / Clinical Allergy and Immunology

Combined thoraco-laparoscopy for trans-diaphragmatic thoraco-abdominal enteric duplications

Treatment Outcome / Twins / Humans / Female / Thorax / Pediatric Surgery / Infant / Newborn Infant / Prenatal Diagnosis / Minimally Invasive / Laparoscopy / Abdomen / Thoracoscopy / Duodenum / Pediatric Surgery / Infant / Newborn Infant / Prenatal Diagnosis / Minimally Invasive / Laparoscopy / Abdomen / Thoracoscopy / Duodenum

Hemofilia: diagnóstico molecular y alternativas de tratamiento

Genetics / Colombia / Quality of life / Gene Therapy / Therapy / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Primary Prevention / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Primary Prevention

Hemofilia: diagnóstico molecular y alternativas de tratamiento

Genetics / Colombia / Quality of life / Gene Therapy / Therapy / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Primary Prevention / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Primary Prevention

First prenatal diagnosis of acyl-CoA oxidase deficiency

Pregnancy / Humans / Fatty acids / Female / Oxidoreductases / Amniotic Fluid / Differential Diagnosis / Clinical Sciences / Adult / Consanguinity / Prenatal Diagnosis / Oxidation-Reduction / Immunoblotting / Amniotic Fluid / Differential Diagnosis / Clinical Sciences / Adult / Consanguinity / Prenatal Diagnosis / Oxidation-Reduction / Immunoblotting

Prenatal diagnosis of pyruvate carboxylase deficiency

Pregnancy / Humans / Female / Male / Amniotic Fluid / Skin / Biotin / Clinical Sciences / Newborn Infant / Prenatal Diagnosis / Fetus / Citrulline / Protein Binding / fibroblasts / Skin / Biotin / Clinical Sciences / Newborn Infant / Prenatal Diagnosis / Fetus / Citrulline / Protein Binding / fibroblasts

Carnitine Palmitoyltransferase Deficiencies

Membrane Proteins / Mitochondria / Molecular Genetics / Sudden Death / Pregnancy / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Clinical Sciences / Fatty Acid / Prenatal Diagnosis / Amino Acid Profile / Clinical Presentation / Tissue Specificity / Humans / Mutation / Female / Inborn errors of metabolism / Fatty Acid Oxidation / Clinical Sciences / Fatty Acid / Prenatal Diagnosis / Amino Acid Profile / Clinical Presentation / Tissue Specificity

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

Genetics / Regeneration / Humans / Pancreas / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / European / Trisomy 21 / Adult / Prenatal Diagnosis / Developmental delay / Wilms' tumor / Chromosome Banding / Pancreatic islets / Child preschool / Chromosome 22q11 deletion / Male / Infant / Karyotyping / Pedigree / Phenotype / European / Trisomy 21 / Adult / Prenatal Diagnosis / Developmental delay / Wilms' tumor / Chromosome Banding / Pancreatic islets / Child preschool / Chromosome 22q11 deletion

Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization

Genetics / Down Syndrome / Pregnancy / Humans / Placenta / Female / Nucleic acid hybridization / Prenatal / Karyotyping / Clinical Sciences / Trisomy 21 / Paraffin / Prenatal Diagnosis / Comparative Genomic Hybridization / Confidence Interval / Female / Nucleic acid hybridization / Prenatal / Karyotyping / Clinical Sciences / Trisomy 21 / Paraffin / Prenatal Diagnosis / Comparative Genomic Hybridization / Confidence Interval

P171: Three-dimensional prenatal diagnosis of en epignathus teratoma

Three Dimensional / Prenatal Diagnosis

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