Last Updated: Apr 07, 2016
- Rare Disease Day® 2016 Highlights
Youtube video, April 2016 - Survey of healthcare experiences of Australian adults living with rare diseases.
Molster Caron et al. Orphanet journal of rare diseases 2016 11(1) 30 - Molecular Answers Found for a Mysterious Rare Immune Disorder
Francis Collins, NIH Director, Blog Post, March 29, 2016 - Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
Khan Imran Ali, et al. Intractable & rare diseases research 2016 2 (1) 25-30 - The Quality of Rare Disease Registries: Evaluation and Characterization.
Coi Alessio et al. Public health genomics 2016 Mar - Discovery of a gene associated with a set of poorly understood rare diseases,
IRB Barcelona, March 2, 2016 - Characteristics and Public Availability of Results of Clinical Trials on Rare Diseases Registered at Clinicaltrials.gov
A deChartres et al, JAMA Internal Medicine, March 7, 2016 - The NIH BD2K center for big data in translational genomics.
Paten Benedict et al. Journal of the American Medical Informatics Association : JAMIA 2015 Nov 22(6) 1143-7 - Rare Diseases, Genomics and Public Health: An Expanding Intersection
CDC Blog Post - Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.
Peng Guoping, et al. Orphanet journal of rare diseases 2016 0 (1) 13 - The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
Karaceper Maria D et al. Orphanet journal of rare diseases 2016 11(1) 12 - Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.
Yamazaki Susumu, et al. Pediatrics international : official journal of the Japan Pediatric Society 2016 2 - Public Health and Rare Diseases: Oxymoron No More
Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016 - Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti Andrea et al. Orphanet journal of rare diseases 2016 11(1) 4 - Pennsylvania Genetic Services Program
Disease: Multiple Diseases; Type: General Information; State: Pennsylvania - Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol Elise, et al. Orphanet journal of rare diseases 2015 0 (1) 158 - Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
Vignoli Aglaia, et al. Orphanet journal of rare diseases 2015 0 154 - 47 patients with FLNA associated periventricular nodular heterotopia.
Lange Max, et al. Orphanet journal of rare diseases 2015 0 134 - The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
Hernández-Porras Isabel, et al. Rare diseases (Austin, Tex.) 2015 0 (1) e1045169 - Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki Eleni, et al. Orphanet journal of rare diseases 2015 0 123 - Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Rothwell Simon, et al. Annals of the rheumatic diseases 2015 9 - Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands.
Cordeiro Lisa, et al. Intractable & rare diseases research 2015 8 (3) 123-30 - Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Published on 2015 by Expert panel - Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
Published on 2015 by Expert panel - Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang Lichun, et al. Orphanet journal of rare diseases 2015 0 (1) 110 - Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study.
Suhr Ole B, et al. Orphanet journal of rare diseases 2015 0 (1) 109 - Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay Sarah F, et al. Orphanet journal of rare diseases 2015 0 103 - High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Bu Fengxiao, et al. Journal of the American Society of Nephrology : JASN 2015 8 - Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Published on 2014 by International Union of Immunological Societies Expert Committee for Primary Immunodeficiency - A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
Published on 2014 by Expert group
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