DOWN SYNDROME
Last Updated: Mar 22, 2016
- World Down Syndrome Day
Caleb' story - Retrospective Study of Obesity in Children with Down Syndrome.
Basil Janet S et al. The Journal of pediatrics 2016 Mar - Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.
et al. Obstetrics and gynecology 2016 Mar - Increased MTHFR promoter methylation in mothers of Down syndrome individuals.
Coppedè Fabio, et al. Mutation research 2016 2 1-6 - Factors associated with utilization of maternal serum screening for Down syndrome in mainland China: a cross-sectional study.
Li Chuanlin et al. BMC health services research 2016 16(1) 8 - First trimester screening cut-offs for noninvasive prenatal testing as a contingent screen: Balancing detection and screen-positive rates for trisomy 21.
Maxwell Susannah et al. The Australian & New Zealand journal of obstetrics & gynaecology 2016 Jan - CELL FREE DNA TESTING AFTER COMBINED TEST: FACTORS AFFECTING THE UPTAKE.
Maiz Nerea et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 Jan 1-16 - Center for Congenital and Inherited Disorders (CCID)
Disease: Birth defects; Type: General Information; State: Iowa - Genetic Disease & Early Childhood
Disease: Birth defects; Type: Program; State: Missouri - State Plan for Genetic Services in Missouri[PDF 81.12 KB]
Disease: Multiple Diseases; Type: Data|Policy|Program; State: Missouri - [Noninvasive prenatal screen of trisomy-21 using maternal plasma fetal free RNA allelic ratio].
Xu Yajuan, et al. Zhonghua fu chan ke za zhi 2015 8 (8) 568-75 - Newborn Screening and Follow-up (Pennsylvania)
Disease: NA; Type: Program; State: Pennsylvania - Pennsylvania Genetic Services Program
Disease: Multiple Diseases; Type: General Information; State: Pennsylvania - Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.
Hill Melissa et al. European journal of human genetics : EJHG 2015 Nov - Association Between DSCR1 Variations and Congenital Heart Disease Susceptibility.
Guo Ren Yu, et al. Medical science monitor : international medical journal of experimental and clinical research 2015 0 3536-9 - Key Findings: Growth Charts for Children with Down Syndrome in the United States
- Timing of therapies for Down syndrome: the sooner, the better.
Stagni Fiorenza et al. Frontiers in behavioral neuroscience 2015 265 - New Perspectives for the Rescue of Cognitive Disability in Down Syndrome.
Bartesaghi Renata et al. The Journal of neuroscience : the official journal of the Society for Neuroscience 2015 Oct (41) 13843-52 - The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer's disease biomarkers in down syndrome.
Rafii Michael S, et al. Frontiers in behavioral neuroscience 2015 0 239 - Learn more about Down syndrome and about Keaton, a boy with Down syndrome
- Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.
Leiva Portocarrero Maria Esther et al. BMC medical informatics and decision making 15(1) 76 - Informed choice about Down syndrome screening - Effect of an eHealth tool: A randomized controlled trial.
Skjøth Mette Maria et al. Acta Obstet Gynecol Scand 2015 Aug 31. - Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.
Ramachandran Dhanya, et al. G3 (Bethesda, Md.) 2015 7 - Serum NGAL is Associated with Distinct Plasma Amyloid-? Peptides According to the Clinical Diagnosis of Dementia in Down Syndrome.
Naudé Petrus J W, et al. Journal of Alzheimer's disease : JAD 2015 0 (3) 733-43 - Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
Singh Onkar Nath, et al. American journal of obstetrics and gynecology 2015 8 (2) 253 - The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case-control study and a meta-analysis.
Coppedè Fabio, et al. Molecular biology reports 2014 9 (9) 5571-83 - Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.
Pergament Eugene, et al. Obstetrics and gynecology 2014 8 (2 Pt 1) 210-8 - Gene alterations involving the CRLF2-JAK pathway and recurrent gene deletions in Down syndrome-associated acute lymphoblastic leukemia in Japan.
Hanada Isamu, et al. Genes, chromosomes & cancer 2014 11 (11) 902-10 - Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
Nikolaev Sergey I, et al. Nature communications 2014 0 4654 - Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
Dar Pe'er, et al. American journal of obstetrics and gynecology 2014 11 (5) 527.e1-527.e17
Relevant Resources
- Cancer Genomics and Epidemiology Navigator (CGEN)
- Genetics and Genomics Competencies Center (G2C2)
- NIH Genetic Testing Registry
- NIH MedGen Database
- Online Mendelian Inheritance in Man (OMIM)
- PharmGKB
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