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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 Reviews Endocrinology, ISSN 1759-5029, 02/2017, Volume 13, Issue 2, pp. 105 - 124
Journal Article
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 1/2018, Volume 48, Issue 1, pp. 326 - 331
Journal Article
Journal Article
Romanian Biotechnological Letters, ISSN 1224-5984, 11/2012, Volume 17, Issue 6, pp. 7846 - 7852
This work aimed to compare the clinical validity of a newly developed assay for Prader-Willi syndrome diagnosis in Romanian population, as compared to an... 
Fluorescence in situ hybridization (FISH) | Methylation-specific PCR (MS-PCR) | Prader-Willi syndrome (PWS) | DNA METHYLATION | MLPA | MOLECULAR DIAGNOSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | fluorescence in situ hybridization (FISH) | ANGELMAN-SYNDROMES | SNRPN GENE | MECHANISMS | DEFINE | methylation-specific PCR (MS-PCR) | REGION
Journal Article
Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 595 - 602
Journal Article
Journal of Intellectual Disability Research, ISSN 0964-2633, 04/2015, Volume 59, Issue 4, pp. 307 - 318
BackgroundThere are a number of neurogenetic syndromes with well described behavioural phenotypes including fragile X syndrome, Prader-Willi syndrome, Williams... 
ADHD | ASD | VCFS | syndrome | velo‐cardio‐facial syndrome | fragile | Prader–Willi syndrome | autism spectrum disorder | Williams syndrome | Velo-cardio-facial syndrome (VCFS) | Fragile X syndrome | Autism spectrum disorder (ASD) | Prader-Willi syndrome | CONTROLLED-TRIAL | DEFICIT HYPERACTIVITY DISORDER | fragile X syndrome | velo-cardio-facial syndrome (VCFS) | 22Q11.2 DELETION SYNDROME | AUTISM SPECTRUM DISORDERS | PERVASIVE DEVELOPMENTAL DISORDERS | EDUCATION, SPECIAL | FRAGILE-X-SYNDROME | PSYCHIATRIC-DISORDERS | VELOCARDIOFACIAL SYNDROME | REHABILITATION | autism spectrum disorder (ASD) | PRADER-WILLI-SYNDROME | YOUNG-CHILDREN | Humans | Parents | Child, Preschool | Male | Fragile X Syndrome - drug therapy | Young Adult | Ireland | Adult | Female | Attention Deficit Disorder with Hyperactivity - diagnosis | Mental Disorders - diagnosis | Child | Autism Spectrum Disorder - diagnosis | DiGeorge Syndrome - drug therapy | Prader-Willi Syndrome - drug therapy | Health Care Surveys - methods | Prader-Willi Syndrome - diagnosis | Williams Syndrome - drug therapy | United Kingdom | Attention Deficit Disorder with Hyperactivity - drug therapy | Syndrome | Williams Syndrome - diagnosis | DiGeorge Syndrome - diagnosis | Mental Disorders - drug therapy | Psychopharmacology | Adolescent | Autism Spectrum Disorder - drug therapy | Health Care Surveys - statistics & numerical data | Fragile X Syndrome - diagnosis | Psychological aspects | Surveys | Health aspects | Mental health | Attention-deficit hyperactivity disorder | Attention deficit disorder | Disabled children | Mental disorders | Hyperactivity | Index Medicus
Journal Article