Disease: Chromosome 16- trisomy
- 9q34 & 16p13 chromosome duplications in autism
- A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
- Absence of Prenatal Forebrain Defects in the Dp(16)1Yey/+ Mouse Model of Down Syndrome
- Absence of SYCP3 mutations in women with recurrent miscarriage with at least one trisomic miscarriage
- Acquisition of Inv(16)(p13q22) in a blast crisis of chronic myeloid leukemia: case report
- Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report
- Acute myeloid leukemia with inversion of chromosome 16: cytological, immunophenotypic and cytogenetic disruption
- Alterations in the Serotonin and Dopamine Pathways by Cystathionine Beta Synthase Overexpression in Murine Brain
- Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p
- Cell type-specific enrichment of somatic aneuploidy in the mammalian brain
- Chorionic villus cell culture and karyotype analysis in 1 983 cases of spontaneous miscarriage
- Chromosomal uniparental disomy 16 and fetal intrauterine growth restriction
- Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement
- Clinical and molecular delineation of a 16p13.2p13.13 microduplication
- Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication
- Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature
- Comparison of the etiological constitution of two and three or more recurrent miscarriage
- Comprehensive Analyses of Molecules with Altered Expression in the Brain of a Mouse Model of Down Syndrome for Identification of Pharmacotherapeutic Targets
- Confined placental trisomy detection through non-invasive prenatal testing: benefit for pregnancy management
- Context Fear Conditioning in Down Syndrome Mouse Models: Effects of Trisomic Gene Content, Age, Sex and Genetic Background
- Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes
- Cytogenetic analysis of material from spontaneous abortion
- Cytogenetic Analysis of the Products of Conception After Spontaneous Abortion in the First Trimester
- Detecting trisomy in products of conception from first-trimester spontaneous miscarriages by next-generation sequencing (NGS)
- Detection of confined placental trisomy 16 using non-invasive prenatal testing in a pregnancy associated with intrauterine growth restriction and normal karyotype
- Development of a Chromosomal Microarray Test for the Detection of Abnormalities in Formalin-Fixed, Paraffin-Embedded Products of Conception Specimens
- Developmental potential of aneuploid human embryos cultured beyond implantation
- Diagnosis of a fetus with a de novo 16q partial trisomy syndrome
- Distinctive neurological phenotype associated with partial trisomy of chromosome 16
- Double Trisomy 16 and 22 Clinically Mimic Partial Hydatidiform Mole in a Case of Subsequent Pregnancy Loss
- Effect of DYRK1A activity inhibition on development of neuronal progenitors isolated from Ts65Dn mice
- Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans
- Epigenetic effects of trisomy 16 in the human placenta
- Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome
- First trimester detection of trisomy 16 using combined biochemical and ultrasound screening
- First trimester miscarriage evaluation
- Gene expression dysregulation domains are not a specific feature of Down syndrome
- Generation of functional oocytes from male mice in vitro
- Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel
- Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice
- Identification of differentially methylated genes in first-trimester placentas with trisomy 16
- Increased Nuchal Translucency and Early Growth Retardation Related to Confined Placental Mosaicism of Trisomy 16 in a Dichorionic Twin
- Interaction of sexual dimorphism and gene dosage imbalance in skeletal deficits associated with Down syndrome
- Is there an association between paternal age and aneuploidy? Evidence from young donor oocyte-derived embryos: a systematic review and individual patient data meta-analysis
- Jumping translocation involving chromosome 13q in a patient with Crohn's Disease and inv(16)(p13.1q22)/CBFB-MYH11 acute myeloid leukemia
- Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature
- Knockdown of Myo-Inositol Transporter SMIT1 Normalizes Cholinergic and Glutamatergic Function in an Immortalized Cell Line Established from the Cerebral Cortex of a Trisomy 16 Fetal Mouse, an Animal Model of Human Trisomy 21 (Down Syndrome)
- Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome
- Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself
- Mechanisms of formation of structural variation in a fully sequenced human genome
- Molecular Cytogenetic Characterization of a Structural Abnormal Chromosome 16 in a Patient with Acute Myeloid Leukemia Leading to Inversion Chromosome 16 with Concomitant 3'CBFB Deletion
- Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia
- Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes a
- Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?
- Next Generation Sequencing-Based Comprehensive Chromosome Screening in Mouse Polar Bodies, Oocytes, and Embryos
- Non-mosaic uniparental trisomy 16 presenting with asplenia syndrome and placental abruption: a case report and literature review
- Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution
- Novel parent-of-origin-specific differentially methylated loci on chromosome 16
- Origin of trisomy: no evidence to support the ovarian mosaicism theory
- Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA
- Overlapping DNA methylation profile between placentas with trisomy 16 and early-onset preeclampsia
- Parental balanced chromosomal rearrangement leading to major genomic imbalance and an autosomal trisomy resulting in consecutive pregnancy loss: a case report
- Partial monosomy 8p and trisomy 16q in two children with developmental delay detected by array comparative genomic hybridization
- Partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31 →qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization
- Partial trisomy 16q and partial monosomy 7p of a fetus derivated from paternal balanced translocation: A case report
- Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature
- Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis
- PLACENTAL MOSAICISM: COMPLETE DISCORDANCE BETWEEN THE PLACENTA AND THE FETUS. CLINICAL CASE RECORD
- Pregnancy course and outcomes in mosaic trisomy 16 confined to the placenta: A case series
- Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice
- Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies
- Pregnancy outcomes of rare autosomal trisomies results in non-invasive prenatal screening: clinical follow-up data from a single tertiary centre
- Prenatal cytogenetic and molecular genetic analysis of a fetus with confined placenta mosaicism for trisomy 16
- Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review
- Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)
- Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16
- Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus
- Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome
- Prenatal diagnosis of mosaicism for trisomy 16 in a single colony at amniocentesis with a favorable outcome
- Prenatal Diagnosis of True Fetal Mosaicism with Small Supernumerary Marker Chromosome Derived from Chromosome 16 by Funipuncture and Molecular Cytogenetics Including Chromosome Microarray
- Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study
- Protein kinase profiling in miscarriage: implications for the pathogenesis of trisomic pregnancy
- Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
- Quantitative proteomics suggest a potential link between early embryonic death and trisomy 16
- Rapamycin Treatment Ameliorates Age-Related Accumulation of Toxic Metabolic Intermediates in Brains of the Ts65Dn Mouse Model of Down Syndrome and Aging
- Restrained Phosphatidylcholine Synthesis in a Cellular Model of Down's Syndrome is Associated with the Overexpression of Dyrk1A
- Signalling pathways contributing to learning and memory deficits in the Ts65Dn mouse model of Down syndrome
- Skewed X-chromosome inactivation in human embryos with mosaic trisomy 16
- Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16)
- Synchronous Diagnosis of <em>De Novo</em> Acute Myeloid Leukemia with inv(16)(p13q22) and Chronic Lymphocytic Leukemia: A Case Report and Review of the Literature
- The association between rare large duplication of 16p11.2 and schizophrenia in the Singaporean Chinese population
- The challenging trisomy 16: a case report
- The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study
- Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features
- Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism
- Ts66Yah, a mouse model of Down syndrome with improved construct and face validity
- Ulcerative colitis in a child with partial trisomy 16
- UPD16 itself is not a cause of intrauterine growth restriction
- Variations in chromosomal aneuploidy rates in IVF blastocysts and early spontaneous abortion chorionic villi
- Vesicules or placental lakes in ultrasonography, determining the correct etiology