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Paediatrics and Child Health, ISSN 1751-7222, 12/2018, Volume 28, Issue 12, pp. 574 - 578
Congenital heart disease affects around 0.7% of liveborn infants and is the most frequent cause of death from congenital malformations. This review will... 
marfan syndrome | noonan syndrome | Alagille syndrome | trisomy 21 | Down syndrome | 22q11 deletion | Turner syndrome | Holt-Oram syndrome | Williams syndrome | Loeys-Dietz syndrome | CHARGE syndrome | congenital heart disease | Kabuki syndrome | Genetic disorders | Research | Comorbidity | Heart diseases | Analysis | Patient outcomes
Journal Article
Journal of the American Academy of Child & Adolescent Psychiatry, ISSN 0890-8567, 2010, Volume 49, Issue 8, pp. 794 - 809
Objective Current research suggests that the causes of autism spectrum disorders (ASD) are multifactorial and include both genetic and environmental factors.... 
Pediatrics | Psychiatry | autism spectrum disorders | epigenetics | genetics | GENOTYPE-PHENOTYPE CORRELATIONS | PSYCHIATRY | PSYCHOLOGY, DEVELOPMENTAL | NEUROTROPHIC FACTOR BDNF | CHINESE HAN POPULATION | SEROTONIN TRANSPORTER GENE | PERVASIVE DEVELOPMENTAL DISORDERS | BECKWITH-WIEDEMANN-SYNDROME | FRAGILE-X-SYNDROME | PEDIATRICS | IN-VITRO FERTILIZATION | SYNDROME CRITICAL REGION | PRADER-WILLI-SYNDROME | Autism | Etiology | Pervasive Developmental Disorders | Mental Retardation | Evidence | Genetics | Environmental Influences | Cognitive Development | Symptoms (Individual Disorders) | Megalencephaly - psychology | Angelman Syndrome - psychology | Humans | Rett Syndrome - psychology | Angelman Syndrome - diagnosis | Social Environment | CHARGE Syndrome - psychology | Turner Syndrome - diagnosis | Prader-Willi Syndrome - psychology | Child Development Disorders, Pervasive - diagnosis | Angelman Syndrome - genetics | Prader-Willi Syndrome - genetics | Child | Fragile X Syndrome - genetics | Genetic Predisposition to Disease - psychology | Megalencephaly - genetics | Prader-Willi Syndrome - diagnosis | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Rett Syndrome - diagnosis | Comorbidity | Risk Factors | CHARGE Syndrome - diagnosis | Chromosomes, Human, Pair 15 - genetics | Megalencephaly - diagnosis | Child Development Disorders, Pervasive - psychology | Child Development Disorders, Pervasive - genetics | Epigenesis, Genetic - genetics | Fragile X Syndrome - psychology | Adolescent | Turner Syndrome - genetics | CHARGE Syndrome - genetics | Rett Syndrome - genetics | Fragile X Syndrome - diagnosis | Psychological aspects | Epigenetic inheritance | Genetic aspects | Epigenetics | Child psychology | Gene expression | Genomics | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 12/2017, Volume 217, Issue 6, pp. 691.e1 - 691.e6
Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data... 
amniocentesis | trisomy 13 | trisomy 21 | 47,XXY | noninvasive prenatal testing | noninvasive prenatal screening | 47,XXX | 47,XYY | cell-free DNA | NIPT | prenatal diagnosis | microdeletion syndrome | trisomy 18 | CHROMOSOMAL MICROARRAY | TRISOMIES 21 | FREE DNA | RISK | CLINICAL-EXPERIENCE | OBSTETRICS & GYNECOLOGY | FETAL ANEUPLOIDIES | Chromosome Disorders - blood | Predictive Value of Tests | Turner Syndrome - blood | Cri-du-Chat Syndrome - diagnosis | Humans | Angelman Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - genetics | Turner Syndrome - diagnosis | Sex Chromosome Disorders of Sex Development - blood | Trisomy 18 Syndrome - diagnosis | Cri-du-Chat Syndrome - genetics | Klinefelter Syndrome - blood | Klinefelter Syndrome - genetics | Sex Chromosome Aberrations | Microarray Analysis | Karyotyping | Down Syndrome - blood | Angelman Syndrome - genetics | Chorionic Villi Sampling | Chromosome Disorders - diagnosis | Prader-Willi Syndrome - genetics | Female | Down Syndrome - diagnosis | Amniocentesis | Prader-Willi Syndrome - diagnosis | Trisomy 13 Syndrome - genetics | Chromosomes, Human, X - genetics | Prader-Willi Syndrome - blood | Prenatal Diagnosis | In Situ Hybridization, Fluorescence | Cri-du-Chat Syndrome - blood | Pregnancy | Trisomy 18 Syndrome - blood | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Trisomy 13 Syndrome - blood | Cell-Free Nucleic Acids - blood | Trisomy 18 Syndrome - genetics | Down Syndrome - genetics | Klinefelter Syndrome - diagnosis | Turner Syndrome - genetics | Angelman Syndrome - blood | Trisomy 13 Syndrome - diagnosis | Chromosome Disorders - genetics | DNA microarrays | Medical screening | Pregnant women | Chromosomes | Analysis
Journal Article
Experimental and Clinical Endocrinology & Diabetes, ISSN 0947-7349, 11/2012, Volume 120, Issue 10, pp. 579 - 585
Abstract Background: Several genetic syndromes are associated with diabetes mellitus (DM). This study aimed to analyse data from the DPV database with regard... 
Article | Klinefelter syndrome | Friedreich ataxia | Pediatric diabetology | Prader-Willi syndrome | Turner syndrome | Alström syndrome | YOUNG-ADULTS | DOWNS-SYNDROME | INCREASED PREVALENCE | TURNER-SYNDROME | ALSTROM-SYNDROME | KLINEFELTERS-SYNDROME | GHRELIN LEVELS | ENDOCRINOLOGY & METABOLISM | BODY-MASS INDEX | Alstrom syndrome | PRADER-WILLI-SYNDROME | Diabetes Mellitus, Type 1 - epidemiology | Glycated Hemoglobin A - analysis | Prader-Willi Syndrome - epidemiology | Genetic Diseases, Inborn - blood | Prevalence | Prospective Studies | Turner Syndrome - blood | Diabetic Nephropathies - etiology | Humans | Male | Down Syndrome - physiopathology | Diabetes Mellitus, Type 1 - complications | Genetic Diseases, Inborn - epidemiology | Diabetes Mellitus, Type 2 - epidemiology | Turner Syndrome - epidemiology | Diabetes Mellitus, Type 1 - etiology | Diabetes Mellitus, Type 2 - immunology | Prader-Willi Syndrome - physiopathology | Turner Syndrome - physiopathology | Down Syndrome - blood | Autoantibodies - analysis | Diabetes Mellitus, Type 2 - etiology | Female | Prader-Willi Syndrome - immunology | Diabetes Mellitus, Type 1 - immunology | Diabetic Retinopathy - etiology | Child | Dyslipidemias - etiology | Diabetes Mellitus, Type 2 - complications | Prader-Willi Syndrome - blood | Genetic Diseases, Inborn - immunology | Austria - epidemiology | Down Syndrome - epidemiology | Turner Syndrome - immunology | Germany - epidemiology | Down Syndrome - immunology | Diabetic Retinopathy - epidemiology | Dyslipidemias - epidemiology | Adolescent | Diabetic Nephropathies - epidemiology | Genetic Diseases, Inborn - physiopathology | Longitudinal Studies
Journal Article
Journal Article
Endocrine Reviews, ISSN 0163-769X, 2018, Volume 39, Issue 4, pp. 389 - 423
Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose substantial diagnostic challenges, as many patients are still... 
TESTICULAR SPERM EXTRACTION | METABOLIC SYNDROME | X-CHROMOSOME | BONE-MINERAL DENSITY | ENDOCRINOLOGY & METABOLISM | IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM | MITRAL-VALVE-PROLAPSE | OF-THE-LITERATURE | TURNER-SYNDROME | SEX-CHROMOSOME ABNORMALITIES | TESTOSTERONE REPLACEMENT THERAPY | Humans | Infertility, Male - etiology | Musculoskeletal Diseases - physiopathology | Male | Cardiovascular Diseases - genetics | Musculoskeletal Diseases - genetics | Klinefelter Syndrome - genetics | Infertility, Male - genetics | Metabolic Diseases - physiopathology | Cognitive Dysfunction - genetics | Cardiovascular Diseases - etiology | Klinefelter Syndrome - metabolism | Cardiovascular Diseases - physiopathology | Musculoskeletal Diseases - etiology | Cardiovascular Diseases - metabolism | Musculoskeletal Diseases - metabolism | Klinefelter Syndrome - complications | Cognitive Dysfunction - metabolism | Cognitive Dysfunction - etiology | Cognitive Dysfunction - physiopathology | Infertility, Male - physiopathology | Animals | Klinefelter Syndrome - physiopathology | Metabolic Diseases - metabolism | Metabolic Diseases - etiology | Metabolic Diseases - genetics | Infertility, Male - metabolism | Neonates | Therapy | Animal models | Senescence | Cognitive ability | Medical services | Cognition | Socioeconomics | Genetic effects | Genetics | Children | Diabetes mellitus (non-insulin dependent) | Phenotypes | Mortality | Medical treatment | Diabetes mellitus | Socio-economic aspects | Health risks | Breast cancer | Ribonucleic acid--RNA | Metabolism | Gene expression | Patients | Morbidity | Hypogonadism | Testosterone | Infertility | Diagnostic systems | Cardiovascular diseases | Endocrinology | Metabolic disorders | Tumors
Journal Article