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Academic Research into Down Syndrome

MedWorm: Down's Syndrome

• Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping : Case report
• Scientists find what causes older mothers to have babies with Down's
• Clue to birth problems of older women
• Fertility study on mice eggs raise hope for older mothers
• Congenital heart defects are under-recognised in adult patients with Down's syndrome
• Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7.
• [Right renal infarction and venous thrombosis secondary to orchiepididymitis and sepsis in a patient with Down syndrome]
• The perception of friendship in adults with Down syndrome
• Quick Testing Developed for Down Syndrome
• Quick testing developed for Down syndrome
• Bifocals in children with Down syndrome (BiDS) – visual acuity, accommodation and early literacy skills
• Series Of Cognitive Tests That May Aid In Better Understanding And Treating Of Down Syndrome
• Down Syndrome group slams Emmys
• Ethnic differences in participation in prenatal screening for Down syndrome: A register‐based study
• Coping with dementia and older families of adults with Down syndrome
• Genetic Analysis of Baker's Yeast Msh4-Msh5 Reveals a Threshold Crossover Level for Meiotic Viability
• Cell Division Study Sheds Light On Special Mechanism In Egg Cells
• UA Researchers Create Tests to Assess Down Syndrome
• Arizona researchers create tests to assess Down syndrome
• Stem Cell Ruling Stops Federal Disease Studies
• Stem Cell Ruling Stops Federal Disease Studies
• Stem Cell Ruling Stops Federal Disease Studies
• Stem Cell Ruling Stops Federal Disease Studies
• Stem Cell Ruling Stops Federal Disease Studies
• Primary Biventricular Repair of Atrioventricular Septal Defects: An Analysis of Reoperations [ORIGINAL ARTICLES: PEDIATRIC CARDIAC]
• Bradycardia During Induction of Anesthesia with Sevoflurane in Children with Down Syndrome.
• Understanding attitudes toward people with Down syndrome
• Generation of a panel of antibodies against proteins encoded on human chromosome 21
• The role of ultrasound and antenatal single-shot fast spin-echo MRI in the evaluation of herniated bowel in case of first trimester ultrasound diagnosis of fetal gastroschisis
• Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group
• The development of adaptive skills in young people with Down syndrome
• MA legislators ban the ‘R-word’ from state laws
• Impairment of ATPase, adenine nucleotide translocator, and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy
• Impairment of ATPase, adenine nucleotide translocator, and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy.
• How Parents Come to Accept Down Syndrome Diagnosis
• Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome
• The Listening Program Helps Children With Down Syndrome Improve Speech Skills
• How Parents Come to Accept Down Syndrome Diagnosis
• How Parents Come to Accept Down Syndrome Diagnosis
• [Down syndrome screening: From medical criticism to crisis of conscience.]
• Weight gain during pregnancy increases weight of child
• Recognising heart disease in children with Down syndrome
• Results Of Pilot Study Published In Journal Music And Medicine Reveal The Listening Program Helps Children With Down Syndrome Improve Speech Skills
• Genetics series expands across Texas offering strong network, support
• [Fetal hepatosplenomegaly in the third trimester: A sign of leukemia in fetuses with Down syndrome.]
• GPs must re-establish a formal role in maternity care
• Auditing ultrasound assessment of fetal nuchal translucency thickness: A review of Australian national data 2002–2008
• The hAPP-YAC transgenic model has elevated UPS activity in the frontal cortex similar to Alzheimer's disease and Down's syndrome
• Identifying facilitators and barriers to physical activity for adults with Down syndrome
• Congenital Heart Surgery Outcomes in Down Syndrome: Analysis of a National Clinical Database
• Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis [Research Papers]
• Stigmatised attitudes towards intellectual disability: a randomised crossover trial [Original papers]
• Portal vascular anomalies in Down syndrome: spectrum of clinical presentation and management approach
• correspondence: Genome gains at chromosome 21q21/22 segment leads to co‐amplification of Down Syndrome Critical Regions and known oncogenes in a case of donor cell‐derived acute myeloid leukaemia following allogeneic sex mismatched umbilical cord blood transplantation for chronic myeloid leukaemia
• Social reasoning skills in adults with Down syndrome: the role of language, executive functions and socio‐emotional behaviour
• Pandemic (H1N1) 2009 Virus and Down Syndrome Patients.
• Are you SURE?: Assessing patient decisional conflict with a 4-item screening test.
• Analysis of peripheral blood T‐cell subsets, natural killer cells and serum levels of cytokines in children with Down syndrome
• Patient Reports: Promotion of growth and development in a Down syndrome infant with complications
• Down syndrome screening using first‐trimester combined tests and contingent use of femur length at routine anomaly scan
• Attribution of false beliefs in the language development of children with Down syndrome
• The notions of classification and seriation in children with Down syndrome
• Case for diagnosis
• Changing Minds Foundation - Down Syndrome Conference
• Effects of cabergoline on pregnancy and embryo-fetal development: retrospective study on 103 pregnancies and a review of the literature
• Psychiatric Symptoms in Adults With Down Syndrome and Alzheimer's Disease
• GABA(B)-GIRK2-Mediated Signaling in Down Syndrome.
• Aerobic training at moderate intensity reduced protein oxidation in adolescents with Down syndrome
• First- and Second-Trimester ADAM12s in Down Syndrome Screening [Letters to the Editor]
• Brain disorders: getting 'Down' to the gene
• The Relationship of Plasma A[beta] Levels to Dementia in Aging Individuals With Down Syndrome
• Down syndrome, autistic kids ride bikes
• Health board
• Assessment of Prevalence of Persons with Down Syndrome: A Theory-based Demographic Model
• Cyclic alternating pattern: A window into pediatric sleep
• Effects of Various Treadmill Interventions on the Development of Joint Kinematics in Infants With Down Syndrome.
• Distribution of nuchal translucency in antenatal screening for Down's syndrome
• The Role of Second-Trimester Serum Screening in the Post–First-Trimester Screening Era
• Monitoring Quality Control of Nuchal Translucency
• An Overview of First-Trimester Screening for Chromosomal Abnormalities
• Cost-Effectiveness of Down Syndrome Screening Paradigms
• First-Trimester Genetic Counseling: Perspectives and Considerations
• Modifying Risk for Aneuploidy with Second-Trimester Ultrasound After a Positive Serum Screen
• 2 Genes Linked to Embryonic Brain Impairment in Down's Syndrome
• Different, difficult or distinct? Mothers' and fathers' perceptions of temperament in children with and without intellectual disabilities
• A hereditary moyamoya syndrome with multisystemic manifestations
• Scientists Identify Critical Genes For Down Syndrome
• Expressive Language Profiles of Verbally Expressive Adolescents and Young Adults with Down Syndrome or Fragile X Syndrome.
• Locomotor activity, object exploration and space preference in children with autism and Down syndrome.
• Mother-Child and Father-Child Emotional Availability in Families of Children with Down Syndrome
• Olig1 and Olig2 triplication causes developmental brain defects in Down syndrome
• Emergence of symbolic schemes in children with Down syndrome, very-low-birth-weight preterm, and typically developing children
• Response Time, Errorless Learning and Explicit Error Correction
• Clinical practice
• Correction
• Angiogenesis: Reducing risk
• The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations
• Life as Jamie Knows It
• The impact of temporal variability of biochemical markers PAPP-A and free beta-hCG on the specificity of the first-trimester Down syndrome screening: a Croatian retrospective study
• Obesity and obesity-related secondary conditions in adolescents with intellectual/developmental disabilities
• Bifocals in children with Down syndrome (BiDS) – visual acuity, accommodation and early literacy skills
• A case of severe ARDS caused by novel swine-origin influenza (A/H1N1pdm) virus: A successful treatment with direct hemoperfusion with polymyxin B-immobilized fiber
• Hyperglycosylated hCG, a review
• Gelsolin Levels are Increased in the Brain as a Function of Age During Normal Development in Children That are Further Increased in Down Syndrome
• Normative curves of fetal nasal bone length for the ethnic Chinese population
• Occult inflammation and/or ischemia may be responsible for the false positivity of biochemical Down syndrome screening test
• A newborn with Down syndrome-transient myeloproliferative disorder
• Follow-up study on reading comprehension in Down's syndrome: the role of reading skills and listening comprehension.
• Down Syndrome group names new head
• Down Syndrome group names new head
• Nigeria: When Down Syndrome Children Cry for Help
• Comprehension of the Communicative Intent Behind Pointing and Gazing Gestures by Young Children with Williams Syndrome or Down Syndrome.
• Struggles online over the meaning of 'Down's syndrome': A 'dialogic' interpretation
• Senile myoclonic epilepsy: Delineation of a common condition associated with Alzheimer's disease in Down syndrome
• Influencing physiotherapy student attitudes toward exercise for adolescents with Down syndrome.
• Comparisons Between Individuals With Autism Spectrum Disorders and Individuals With Down Syndrome in Adulthood
• In vivo effects of APP are not exacerbated by BACE2 co-overexpression: behavioural characterization of a double transgenic mouse model.
• Screening for adverse pregnancy outcome at early gestational age.
• Engineering DYRK1A over-dosage yields Down syndrome-characteristic cortical splicing aberrations.
• Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino ethnicity, and a poor outcome in pediatric B-progenitor acute lymphoblastic leukemia
• Cranial base, maxillary and mandibular morphology in Down syndrome.
• Medical management of children with Down syndrome
• A comparison of the sialochemistry, oral pH, and oral health status of down syndrome children to healthy children
• Influence of Down's syndrome on management and outcome of patients with congenital intrinsic duodenal obstruction
• Down's syndrome patients are less likely to develop cancer.
• Assessment of Prevalence of Persons with Down Syndrome: A Theory‐based Demographic Model
• Acute leukemia in children with Down syndrome.
• Simple blood test could one day detect birth defects
• Health Highlights: June 30, 2010
• Blood test for Down's syndrome
• Comprehensive behavioral assays to enhance phenotype to genotype linkages and therapeutic screening in mouse models of Down syndrome
• Simple test could detect Down's
• Interstitial Deletion of Chromosome 7q and the Lack of Association with Down Syndrome Screening Markers
• A 12-week aerobic training programme reduced plasmatic allantoin in adolescents with Down syndrome
• Clofarabine: Hand-foot syndrome and fatal neurotoxicity in a child with Down syndrome: case report
• Social reasoning skills in adults with Down syndrome: the role of language, executive functions and socio-emotional behaviour
• Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin
• Cortical sources of EEG rhythms are abnormal in down syndrome
• Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey.
• Down syndrome risk calculation for a twin fetus taking account of the nuchal translucency in the co-twin
• Down syndrome screening using first-trimester combined tests and contingent use of femur length at routine anomaly scan
• Down Syndrome--New Prospects for an Ancient Disorder [Commentary]
• Complex karyotype defined by molecular cytogenetic FISH and M-FISH in an infant with acute megakaryoblastic leukemia and neurofibromatosis
• A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes
• [Evaluation of a proximity training program of nuchal translucency measurements and of self-scoring.]
• Subsequent Development of Syringomas in a Patient With Milialike Idiopathic Calcinosis and Without Down Syndrome [Correspondence]
• Compliance Training in an Adult With Dementia of the Alzheimer's Type and Down Syndrome
• Gait patterns in Prader-Willi and Down syndrome patients
• Down syndrome fibroblasts and mouse Prep1-overexpressing cells display increased sensitivity to genotoxic stress
• Oxygen uptake kinetics during exercise in adults with Down syndrome

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Patrons

Down Syndrome Dublin is delighted to announce the support of Barista’s Cafe - our very first Patron!

The exquisite Barista’s Cafe runs a series of delightful Jewellery and Art Exhibitions, and 20% of the proceeds on the launch night go to our Dublin and Wicklow Branches. Our Thanks go to the owner, Hettie Black.