Results 21 to 30 of about 1,474,438 (314)

Producing amyloid fibrils in vitro: A tool for studying AL amyloidosis

Biochemistry and Biophysics Reports, 2023
Amyloid light-chain (AL) amyloidosis is the second most common form of systemic amyloidosis which is characterized by a high level of mortality and no effective treatment to remove fibril deposition.
Daria V. Sizova, Steve Raiker, Deaneira Lakheram, Vishwanatha Rao, Andrew Proffitt, Yazen Jmeian, Walter Voegtli, Melissa Batonick   +7 more
doaj   +1 more source

Biomarkers in Rare Diseases

Public Health Genomics, 2013
<b><i>Background:</i></b> Nowadays 7,000 rare diseases (RDs) have been identified with a prevalence less than 5/10,000. Despite of the enormous effort the European Union (EU) has already invested in this field, still 4,000 RDs remain orphan of genetic diagnosis and causative gene identification.
FERLINI, Alessandra, SCOTTON, Chiara, G. Novelli   +2 more
openaire   +3 more sources

Anaemia in Waldmann’s disease: A rare presentation of a rare disease

World Journal of Gastrointestinal Endoscopy, 2015
A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Shahira A, El-Etreby, Ahmed Y, Altonbary, Mohamed El, Sorogy, Wagdi, Elkashef, Jehan A, Mazroa, Monir H, Bahgat   +5 more
openaire   +2 more sources

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes. [PDF]

, 2011
Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not been comprehensively studied.
Margaret Gelder Ehm, Sharon R. Browning, Slater, Andrew J., Browning, Brian L., Aponte, Jennifer L., Browning Sharon R., Ehm, Margaret Gelder, Stephanie L Chissoe, Whittaker John C., Mooser, Vincent E., Sharon R Browning, Li, Li, Vincent E. Mooser, Jennifer L. Aponte, Brian L Browning, Li Yun, Whittaker, John C., Jennifer L Aponte, Browning, Brian L, Ehm Margaret Gelder, Browning, Sharon R, Whittaker, John C, Nelson, Matthew R, Mooser Vincent E., Aponte, Jennifer L, John C. Whittaker, Matthew R Nelson, Andrew J Slater, Vincent E Mooser, Browning Brian L., Mooser, Vincent E, Nelson Matthew R., Nelson, Matthew R., Li, Yun, John C Whittaker, Yun Li, Chissoe Stephanie L., Browning, Sharon R., Kong Xiangyang, Slater, Andrew J, Chissoe, Stephanie L, Matthew R. Nelson, Chissoe, Stephanie L., Li Li, Andrew J. Slater, Stephanie L. Chissoe, Xiangyang Kong, Slater Andrew J., Kong, Xiangyang, Aponte Jennifer L., Brian L. Browning   +50 more
core   +1 more source

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

, 2022
Publisher Copyright: © 2022 Association for Molecular Pathology and American Society for Investigative PathologyMany patients experiencing a rare disease remain undiagnosed even after genomic testing.
Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium
core   +1 more source

Managing rare diseases: examples of national approaches in Europe, North America and East Asia

, 2022
Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases.
Cocqueel-Tiran, Florence, Cortial, Lucas, Trentesaux, Valérie, Moliner, Antoni Montserrat, Nguyen, Catherine, Julkowska, Daria, Blin, Olivier   +6 more
core   +1 more source

Rare Autoinflammatory Diseases

Turkish Archives of Pediatrics, 2021
Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
Başaran, Özge, Bilginer, Yelda, Özen, Seza   +2 more
openaire   +2 more sources

Overview of patients’ cohorts in the French National rare disease registry

Orphanet Journal of Rare Diseases, 2023
In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci, Anne-Sophie Jannot, on behalf of the BNDMR infrastructure team   +7 more
doaj   +1 more source

Comparison of statistical tests for association between rare variants and binary traits. [PDF]

, 2012
Genome-wide association studies have found thousands of common genetic variants associated with a wide variety of diseases and other complex traits. However, a large portion of the predicted genetic contribution to many traits remains unknown.
Nelson Matthew R., Nelson, Matthew R., John C Whittaker, John C. Whittaker (51412), Whittaker, John C., Silviu-Alin Bacanu (143389), Nelson, Matthew R, Whittaker, John C, Bacanu Silviu-Alin, Whittaker John C., Silviu-Alin Bacanu, Matthew R Nelson, Bacanu, Silviu-Alin, Matthew R. Nelson (143393)   +13 more
core   +1 more source

Rare Diseases of the Orbit.

Laryngo- rhino- otologie, 2021
This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space.
Kisser, Ulrich, Heichel, Jens, Glien, Alexander   +2 more
openaire   +2 more sources