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Importance of Aberrant Right Subclavian Artery Detection During Second Trimester Ultrasound Examination in Low-Risk Population
Published 2022-12-01Subjects: Get full text
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Multiple Organ Failure Associated with SARS-CoV-2 Infection in a Child with Down Syndrome: Is Trisomy 21 Associated with an Unfavourable Clinical Course?
Published 2021-01-01“…Introduction. Down syndrome (DS) is one of the most frequent genomic disorders around the globe (∼1:700 births). …”
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Trisomy 21 screening with αlpha software and the Fetal Medicine Foundation algorithm
Published 2023-11-01Subjects: Get full text
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Evaluating the Agreement of Risk Categorization for Fetal Down Syndrome Screening between Ultrasound-Based Gestational Age and Menstrual-Based Gestational Age by Maternal Serum Markers
Published 2018-01-01“…The agreement of risk categorization for fetal Down syndrome was evaluated. Results. The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. …”
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How a gene fuels ear infections
Published 2025-01-01Subjects: “…down syndrome…”
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Assessment of Nuchal Translucency Nasal Bone and Ductus Venosus Flow in the First Trimester: Pregnancy Outcomes
Published 2014-08-01Subjects: Get full text
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Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21
Published 2025-02-01Subjects: Get full text
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Polimorfisme Gen Apolipoprotein E Pada Penderita Sindrom Down Trisomi 21
Published 2013-01-01“…In previous study, Down Syndrome groups are having different type of APOE gene compared with control. …”
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The Correlation Between Of Nutritional Status And Cognitive Development
Published 2017-07-01“…In Ponorogo there are three villages with a population of the majority are living with down syndrome, one of them is sidoharjo village, Jambon, with 323 people where toddlers till adult 40 years has the most Down Syndrom attact. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience
Published 2022-03-01“…Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. …”
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Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis
Published 2024-01-01“…Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disability syndrome which is characterized by distinct physical features with microcephaly and global developmental delay. …”
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A Rare Case of Extensive Eggshell Intestinal Wall Peritoneal Calcification in a Long-Term Continuous Peritoneal Dialysis Patient
Published 2022-01-01“…We report a case of a 55-year-old female patient with Down syndrome and end-stage renal disease (ESRD) on long-term peritoneal dialysis (PD) with extensive intestinal peritoneal calcifications and a rather uncomplicated long follow-up.…”
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Rett Syndrome. A Review with Emphasis on Clinical Characteristics and Intervention
Published 2006-01-01“…In the majority of cases, it is caused by a mutation in MECP2, an X-linked gene, and considered the most common multidisabling genetic disorder in females after Down syndrome. This article is an introduction to RS. …”
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Postural Synergies and Their Development
Published 2005-01-01“…In particular, this approach has been used to demonstrate and to assess the emergence of synergies and their modification with motor practice in typical persons and persons with Down syndrome. The framework of the UCM hypothesis allows the formulation of testable hypotheses with respect to developing postural synergies in typically and atypically developing persons.…”
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From Basic Visual Science to Neurodevelopmental Disorders: The Voyage of Environmental Enrichment-Like Stimulation
Published 2019-01-01“…The aim of this review is to depict, mainly through the much explicative examples of amblyopia, Down syndrome, and Rett syndrome, the increasing interest in the potentialities and applications of enriched environment-like protocols in the field of neurodevelopmental disorders and the understanding of the molecular mechanisms underlying the beneficial effects of these protocols, which might lead to development of pharmacological interventions.…”
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Potential Role of Drebrin A, an F-Actin Binding Protein, in Reactive Synaptic Plasticity after Pilocarpine-Induced Seizures: Functional Implications in Epilepsy
Published 2012-01-01“…Several neurological disorders characterized by cognitive deficits, including Alzheimer's disease, down syndrome, and epilepsy exhibit abnormal spine density and/or morphology. …”
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Developmental Defects in Trisomy 21 and Mouse Models
Published 2006-01-01“…This review focuses on the developmental defects of murine models of a prototype human aneuploidy: trisomy 21 (Down syndrome, DS, T21). Murine models are clearly the best tool for dissecting the phenotypic consequences of imbalances that affect single genes or chromosome segments. …”
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Understanding Fetal Alcohol Spectrum Disorders (FASDs): Toward Identification of a Behavioral Phenotype
Published 2008-01-01“…Fetal alcohol spectrum disorders (FASDs) currently represent the leading cause of mental retardation in North America, ahead of Down syndrome and cerebral palsy. The damaging effects of alcohol on the developing brain have a cascading impact on the social and neurocognitive profiles of affected individuals. …”
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