June 16-23, 2016
Last Updated: Jun 16, 2016
- The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Baynam Gareth et al. Orphanet journal of rare diseases 2016 11(1) 77 - Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Greulich Timm, et al. Orphanet journal of rare diseases 2016 0 (1) 75 - Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out,
by Kat Snow, NPR, June 4, 2016 - Benefits and risks preferences for new medicines in rare diseases
S Ayme, Biomed Central Blog, May 27, 2016 - Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
Daoud Hussein et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May - Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.
Morel T et al. Orphanet journal of rare diseases 2016 11(1) 70 - Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers
T Morel et al, Orhpanet Journal of Rare Diseases, May 27, 2016 - Genetics professionals' opinions of whole-genome sequencing in the newborn period.
Ulm Elizabeth et al. Journal of genetic counseling 2015 Jun 24(3) 452-63 - Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.
Megahed Hisham, et al. Orphanet journal of rare diseases 2016 0 (1) 57 - MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.
Bonella Francesco, et al. Orphanet journal of rare diseases 2016 0 48 - The search for superheroes immune to genetic disease
Genomics Education UK, April 25, 2016 - [Desaturases of fatty acids (FADS) and their physiological and clinical implication].
Žák A, et al. Cas Lek Cesk 2016 0 (2) 15-21 - Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.
Mangatt Meghana, et al. Orphanet journal of rare diseases 2016 0 (1) 39 - Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
R Chen, Nat Biotech, April 11, 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 - 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 - 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 0 (1) 4 - 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 - 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 - 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 - 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
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