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Academic Research into Down Syndrome

MedWorm: Down's Syndrome

• DNA test that identifies Down syndrome in pregnancy can also detect trisomy 18 and trisomy 13
• Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective
• A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
• Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly.
• Aberrant right subclavian artery: incidence and correlation with other markers of Down syndrome in second‐trimester fetuses
• Non‐invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly
• Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011
• Acute megakaryoblastic leukemia and severe pulmonary fibrosis in a child with down syndrome: Successful treatment with ultra low‐dose cytarabine using GATA1 mutation to monitor minimal residual disease
• Incidence of down syndrome: Hypotheses and reality
• Cytogenetic and comorbidity profile of Down syndrome in Mansoura University Children's Hospital, Egypt
• Are medical communities the new marketing demographic?
• Effect of dyrk1a activity inhibition on development of neuronal progenitors isolated from Ts65Dn mice
• More RSV Hospitalizations in Babies With Down SyndromeMore RSV Hospitalizations in Babies With Down Syndrome
• Sonographic findings in a fatal case of transient myeloproliferative disorder
• Anaesthesia and postoperative analgesia in surgical neonates with or without Down's syndrome: is it really different?
• Perioperative care of neonates with Down's syndrome: should it be different?
• Down Syndrome Education Website
• Effectively training pediatric residents to deliver diagnoses of Down syndrome
• Memantine Misses for Dementia in Down's SyndromeMemantine Misses for Dementia in Down's Syndrome
• Search For Effective Treatments For Alzheimer's Disease In Patients With Down's Syndrome Goes On, After Study Shows Memantine Is Ineffective
• First Peer-Reviewed Data For New Noninvasive Prenatal Test Published By Aria Diagnostics
• Memantine Is Ineffective At Treating Alzheimer's Disease In Patients With Down's Syndrome
• Visual perceptual strengths and weaknesses in adults with intellectual disabilities compared with a birth year‐matched norm
• Alzheimer's Med Falls Short in Down Syndrome Patients (CME/CE)
• Alzheimer’s Med Seems Ineffective in Those With Down Syndrome
• Alzheimer's Med Seems Ineffective in Those with Down Syndrome
• Memantine 'not effective' for Down's dementia prevention
• Aria Diagnostics announces publication of first peer-reviewed data for new noninvasive prenatal test
• Effects of Sampling Context on Spontaneous Expressive Language in Males with Fragile X Syndrome or Down Syndrome.
• TSH neurosecretory dysfunction (TSH-nd) in Down syndrome (DS): low risk of progression to Hashimoto's thyroiditis
• Physical Activity Benefits of Learning to Ride a Two-Wheel Bicycle for Children With Down Syndrome: A Randomized Trial. - Ulrich DA, Burghardt AR, Lloyd M, Tiernan C, Hornyak JE.
• Maternal sensitivity and overt aggression in young children with Down syndrome. - Niccols A, Milligan K, Chisholm V, Atkinson L.
• Gamma-tocotrienol does not substantially protect DS neurons from hydrogen peroxide-induced oxidative injury
• UC San Diego's William C. Mobley recognized for contributions to Down syndrome
• Rio-James Jacombe could die if he cries: Baby's windpipe could collapse at any moment
• Subgingival microbiota in adult Down syndrome periodontitis
• Acral Milia‐Like Idiopathic Calcinosis Cutis in a Child with Down Syndrome: Report of a Case, Review of the Literature, and Description of Dermoscopic Findings
• Six Weeks to 45 Years: A Longitudinal Study of a Population with Down Syndrome
• Public services for children with special needs: Discrimination by diagnosis?
• Individual and Environmental Characteristics Associated with Cognitive Development in Down Syndrome: A Longitudinal Study
• Personal narrative skills of school-aged children with Down syndrome.
• Amplified segment in the ‘Down Syndrome critical region’ on HSA21 shared between Down syndrome and euploid AML‐M0 excludes RUNX1, ERG and ETS2
• Intravenous thrombolysis for ischaemic stroke in Down syndrome
• Thriving in 2011: a year in review
• Congenital Heart Disease Associated Pulmonary Arterial Hypertension: Preliminary Results From a Novel Registry
• Respiratory hospitalizations and respiratory syncytial virus prophylaxis in special populations
• Capillary TSH screening programme for Down's syndrome in Scotland, 1997–2009
• More accurate Down syndrome screening test hits the market
• Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971
• Folic Acid and Birth Defects: A Case Study (Iran)
• Treadmill interventions with partial body weight support in children under six years of age at risk of neuromotor delay.
• A Survey of the Imaginary Companion Experience in Adults with Intellectual Disabilities - Faccini L.
• Ultrasound evaluation of the fetal nasal bone: what is the most appropriate first-trimester cut-off point for aneuploidy screening?
• Trisomic and Allelic Differences Influence Phenotypic Variability During Development of Down Syndrome Mice [Genetics of Complex Traits]
• Retrospective Frequency Formats Promote Consistent Experience‐Based Bayesian Judgments
• The thymic‐thoracic ratio in fetuses with trisomy 21, 18 and 13
• Neuronal clustering and fasciculation phenotype in dscam‐ and bax‐deficient mouse retinas
• The thymic-thoracic ratio in fetuses with trisomy 21, 18 and 13.
• Inclusion Works! Inspiration and Information to Counter Arguments against Inclusive Education for Students with Down Syndrome
• The mystery of Carole Myers
• Trisomy 21 and early brain development.
• Dysfunctional hippocampal inhibition in the Ts65Dn mouse model of Down syndrome.
• Estrogen Receptor-Beta Variants Are Associated with Increased Risk of Alzheimer’s Disease in Women with Down Syndrome
• Down Syndrome and Related Developmental Disorders
• Angry Britain: why are we becoming so intolerant?
• Impaired myelination of the human hippocampal formation in Down syndrome.
• Biological Effects of HMGN1 [Gene Regulation]
• Psychosis and Silent Celiac Disease in a Down Syndrome Adolescent: A Case Report
• More academics in regular schools? The effect of regular versus special school placement on academic skills in Dutch primary school students with Down syndrome
• Korean-specific parameter models for calculating the risk of down syndrome in the second trimester of pregnancy.
• American Academy of Pediatrics. Health Supervision for Children with Down Syndrome. Pediatrics. 2011;128(2):393-406
• A novel airway monitor for the nonsecured airway during magnetic resonance imaging in children
• Adults With Intellectual Disabilities Living in Hong Kong's Residential Care Facilities: A Descriptive Analysis of Health and Disease Patterns by Sex, Age, and Presence of Down Syndrome
• Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident
• Differential expression of PARP1 mRNA in leucocytes of patients with Down's syndrome.
• Efficacy of inchinkoto for a patient with liver fibrosis complicated with transient abnormal myelopoiesis in Down's syndrome
• Down Syndrome Diagnosis Based on Gabor Wavelet Transform
• Perioperative Care of the Pediatric Patient With Down Syndrome
• Molecular lesions in childhood and adult acute megakaryoblastic leukaemia
• A follow-up study on word and non-word reading skills in Down syndrome.
• Hematological disorders and leukemia in children with Down syndrome
• Down's syndrome patient died after being wrongly detained in hospital
• System failed Down's syndrome man
• Motility Problems in the Intellectually Challenged Child, Adolescent, and Young Adult
• Myelosuppression and infectious complications in children with down syndrome and acute lymphoblastic leukemia
• Discovery of potent small molecule inhibitors of DYRK1A by structure-based virtual screening and bioassay.
• Inherited Thrombocytopenia Due to GATA-1 Mutations
• Genetic Testing for Down Syndrome: What It Can and Cannot Tell You
• Children’s in the news: Brian Skotko writes Op-Ed for USA Today
• Positron Emission Tomography and Neuropathologic Estimates of Fibrillar Amyloid-{beta} in a Patient With Down Syndrome and Alzheimer Disease [Observation]
• Altered expression of neuropeptides in the primary somatosensory cortex of the Down syndrome model Ts65Dn
• Heavy drinking in pregnancy can alter unborn babies' brains, study shows
• Abnormal or delayed development of the Area Membranacea Posterior of the brain: the Blake's pouch cyst. Anatomy, ultrasound diagnosis, natural history and outcome in the fetus.
• Time for fetal DNA for Down syndrome?
• Capillary TSH screening programme for Down's syndrome in Scotland, 1997-2009
• Abnormal or delayed development of the Area Membranacea Posterior of the brain: the Blake's pouch cyst. Anatomy, ultrasound diagnosis, natural history and outcome in the fetus.
• Phosphorylation of RCAN1 by Dyrk1A [Neurobiology]
• High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome
• [Trisomy 21 by isochromosome: A case report of true false negative of chorionic villi sampling.]
• Right-Dominant Unbalanced Atrioventricular Canal and Genetic Syndromes
• Parental duties and prenatal screening: Does an offer of prenatal screening lead women to believe that they are morally compelled to test?
• Phagocytic Cell Activity and Periodontitis In Down Syndrome
• Getting To The Heart Of Down Syndrome With The Help Of Flies And Mice
• BACE2 Expression Increases in Human Neurodegenerative Disease.
• What Can Cause Memory Problems?
• Biologists use flies and mice to get to the heart of Down syndrome
• Over-Expression of DSCAM and COL6A2 Cooperatively Generates Congenital Heart Defects
• Biologists use flies and mice to get to the heart of Down syndrome
• Macrostructural Narrative Language of Adolescents and Young Adults with Down Syndrome or Fragile X Syndrome.
• A neuroimaging proof of principle study of Down's syndrome and dementia: ethical and methodological challenges in intrusive research
• The growth of reading skills in children with Down Syndrome
• An EPG analysis of /t/ in young people with Down's syndrome.
• High prevalence of hearing loss in down syndrome at first year of life.
• Medical problems and oral care of patients with Down syndrome: a literature review
• Incidence of Severe Congenital Heart Disease at the Province of Al‐Qassim, Saudi Arabia
• Fetal hydrops and anemia as signs of Down syndrome.
• A comparison of tympanometry with 226Hz and 1000Hz probe tones in children with Down syndrome
• Erratum to: Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn
• Cell autonomy of DSCAM function in retinal development.
• Acquisition of Turkish grammatical morphology by children with developmental disorders.
• Abnormal MicroRNA Expression in Ts65Dn Hippocampus and Whole Blood: Contributions to Down Syndrome Phenotypes
• An audit of the detection of trisomy 18 in prenatal screening for Down syndrome using the Combined test
• Mid-Gestational Maternal Free Thyroxine Concentration and Offspring Neurocognitive Development at Age Two Years.
• Down's Syndrome case could see thousands of special needs adults taught alongside children
• Performance of first‐trimester combined test for Down syndrome in different maternal age groups: reason for adjustments in screening policy?
• Meeting patients' education and decision‐making needs for first trimester prenatal aneuploidy screening
• Prevalence and predictive factors of sleep bruxism in children with and without cognitive impairment
• The Enhanced Activity of CREB by RCAN1 (DSCR1) [Molecular Bases of Disease]
• Epidemiology of Down Syndrome: New Insight Into the Multidimensional Interactions Among Genetic and Environmental Risk Factors in the Oocyte
• A simpler test for determining Down’s
• New Blood Test For Down Syndrome - During Early Pregnancy
• Maternal Blood Test IDs Down Syndrome in Early Pregnancy
• Study Shows That New DNA Test To Identify Down Syndrome In Pregnancy Is Ready For Clinical Use
• Instability of the hip in patients with down syndrome: improved results with complete redirectional acetabular osteotomy.
• Prescriptions Blog: The Quandary Posed by a New Down Syndrome Test
• Health Highlights: Oct. 18, 2011
• Sequenom launches Down syndrome test
• Sequenom launches safer test for Down Syndrome
• Sequenom’s Test for Down Syndrome Raises Hopes and Questions
• Sequanon’s Test for Down Syndrome Raises Hopes and Questions
• Palliative Care for Patients with Down Syndrome #243
• Study shows that new DNA test to identify Down syndrome in pregnancy is ready for clinical use
• The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome
• Morphological integration of soft‐tissue facial morphology in down syndrome and siblings
• Nigeria: DSFN Emphasis On Awareness
• Dolphin therapy is a scam | Dea Birkett
• The paradox of disability in abortion debates: bringing the pro-choice and disability rights communities together
• 50 Is the New 40 for Having Babies
• The Accuracy Of Autism Diagnosis In Children With Down Syndrome Validated By New Findings

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