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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
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 | Index Medicus | Abridged Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2009, Volume 41, Issue 11, pp. 1243 - 1246
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1293 - 1301
Journal Article
2012, 1st ed., Progress in brain research, ISBN 9780444542991, Volume 197., x, 262
Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of... 
Developmental neurobiology | Down syndrome
Book
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 | Index Medicus
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 8/2011, Volume 41, Issue 8, pp. 1019 - 1032
Journal Article
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 508, Issue 7496, pp. 345 - 350
Journal Article