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Journal of Maternal-Fetal and Neonatal Medicine, ISSN 1476-7058, 2019, pp. 1 - 6
Recurrent miscarriage (RM) affects about 5% of pregnancies. Etiology of 30-50% RM cases remains unknown. Advanced highly sensitive detection and analysis... 
Genetic | recurrent miscarriage | NGS | microduplication | microdeletion
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 01/2019, Volume 156, Issue 3, pp. 144 - 149
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene... 
Novel Insights from Clinical Practice | Intellectual disability | CNTN6 | Autism spectrum disorder | Microdeletion/microduplication | Microdeletion | microduplication | GENETICS & HEREDITY | NB-3 | CELL BIOLOGY
Journal Article
Molecular syndromology, ISSN 1661-8769, 01/2019, Volume 9, Issue 6, pp. 324 - 327
We report a term male infant with congenital stridor secondary to tracheomalacia and a mild coarctation of the aorta. Developmental delay was noted upon... 
8p11.21 microduplication | Chromosomal microduplication | Congenital anomaly | Neonatal stridor | Short Report | Developmental delay
Journal Article
Journal of Developmental and Behavioral Pediatrics, ISSN 0196-206X, 01/2018, Volume 39, Issue 1, pp. 81 - 84
Ryan is a 5-year-old boy who was seen in a Developmental Behavioral Pediatrics clinic for disruptive behavior and developmental delay. His medical history was... 
myelin transcription factor 1-like gene | functional disabilities | microduplication of 2p25.3 | Autism with microduplication | Case studies | Chromosome abnormalities | Obesity in children | Developmental delay | Child psychopathology
Journal Article
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, ISSN 0196-206X, 01/2018, Volume 39, Issue 1, pp. 81 - 84
CASE: Ryan is a 5-year-old boy who was seen in a Developmental Behavioral Pediatrics clinic for disruptive behavior and developmental delay. His medical... 
INTELLECTUAL DISABILITY | MANAGEMENT | MICROARRAY | MYT1L | microduplication of 2p25.3 | PSYCHOLOGY, DEVELOPMENTAL | Autism with microduplication | AUTISM SPECTRUM DISORDER | myelin transcription factor 1-like gene | BEHAVIORAL SCIENCES | PEDIATRICS | functional disabilities
Journal Article
Cell Reports, ISSN 2211-1247, 02/2019, Volume 26, Issue 8, pp. 2037 - 2051.e6
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and neurodevelopmental disorders, but the underlying genetic etiology remains... 
epilepsy | 15q11.2 | ASD | microduplication | microdeletion | GABA | CNV | dendritic spine | gephyrin | excitatory/inhibitory | CELL-ADHESION MOLECULE | COMPLEX | NEUROLIGIN 2 | PROTEIN | SYNAPSES | GENES | RECURRENT MICRODELETIONS | GENOME-WIDE | GABA(A) RECEPTORS | 15Q11.2 | CELL BIOLOGY
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 01/2018, Volume 153, Issue 1, pp. 22 - 28
A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face;... 
Case Report | Partial 5p trisomy | Small supernumerary marker chromosome | FISH | Microduplication syndrome 5p13Obesity | Intellectual disability | Autism spectrum disorder | Obesity | 5P13.2 DUPLICATION | Microduplication syndrome 5p13 | IDENTIFICATION | CHILDREN | CELL BIOLOGY | NIPBL | CORNELIA | GENETICS & HEREDITY | DUPLICATION SYNDROME | LANGE
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 11/2019, Volume 221, Issue 5, pp. 493.e1 - 493.e11
Microdeletions and microduplications can occur in any pregnancy independent of maternal age. The spectrum and features of pathogenic copy number variants... 
chromosomal microarray | prenatal diagnosis | microduplication | microdeletion | Pregnant women | Analysis | DNA microarrays
Journal Article
JAMA Psychiatry, ISSN 2168-622X, 05/2018, Volume 75, Issue 5, pp. 514 - 523
IMPORTANCE: Autism spectrum disorder (ASD) is a highly prevalent disorder, and community psychiatrists are likely to treat many individuals with ASD during... 
CHROMOSOME 16P11.2 | RECURRENCE RATES | DE-NOVO MUTATIONS | PSYCHIATRY | TWIN PAIRS | MOUSE MODEL | FRAGILE-X | 16P11.2 DELETION | BEHAVIORAL-PHENOTYPE | MICRODUPLICATION 22Q11.2 | COPY-NUMBER VARIATION
Journal Article
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 49
Journal Article
Indian Journal of Medical Research, ISSN 0971-5916, 01/2014, Volume 139, Issue 1, pp. 66 - 75
Journal Article
Pediatrics & Neonatology, ISSN 1875-9572, 02/2019, Volume 60, Issue 1, pp. 35 - 42
Chromosome microarray analysis (CMA) is currently the first-tier diagnostic assay for the evaluation of developmental delay (DD) and intellectual disability... 
developmental delay | microdeletion/microduplication | chromosome microarray analysis | intellectual disability | CNVs | MICRODELETION | DYNC1H1 | MENTAL-RETARDATION | FTSJ1 | MECP2 | MICRODUPLICATION | PEDIATRICS | MUTATIONS | COMPARATIVE GENOMIC HYBRIDIZATION | Usage | DNA microarrays | Diagnosis | Developmental delay | Mental retardation | Causes and theories of causation | Methods | Diseases
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 2018, Volume 156, Issue 1, pp. 14 - 21
ULK4 and BRWD3 deletions have been identified in patients with developmental/language delay and intellectual disability. Both genes play pivotal roles in brain... 
Array-CGH | Microdeletion | ULK4 gene | BRWD3 gene | Microduplication | GENE | GENETICS & HEREDITY | MUTATIONS | CELL BIOLOGY
Journal Article