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Registry of Congenital Dyserythropoietic Anemia

2019-06-18 02:44:27 | BioPortfolio

Published on BioPortfolio: 2019-06-18T02:44:27-0400

Clinical Trials [3352 Associated Clinical Trials listed on BioPortfolio]

The Congenital Dyserythropoietic Anemia Registry (CDAR)

The investigators propose the creation and maintenance of a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal o...

Creation of a French South-Eastern Database and DNA-bank of Congenital Heart Disease to Explore the Genetic Pathways

Congenital heart defects are seen in 0,8% of life births. In France this means more than 5000 newborns per year. The south-east region of France is particularly affected as a result of a h...

Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms

Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.

Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1

Fanconi anemia (FA) is a congenital disease characterized by bone marrow failure and increased incidence of malignant tumors. The Project pursue the optimization of the collection of hemat...

Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)

Approximately 400 Congenital heart disease patients will participate in the research study which will include one or more research visits for neurodevelopmental testing, brain MRI, and col...

PubMed Articles [31105 Associated PubMed Articles listed on BioPortfolio]

Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia.

Congenital sideroblastic anemia (CSA) is a rare hereditary disease causing disorders of hemoglobin synthesis. Severe, progressive congenital sideroblastic anemia becomes transfusion dependent and resu...

Determinants of unit nonresponse in multi-mode data collection: A multilevel analysis.

Multi-mode data collection is widely used in surveys. Since several modes of data collection are successively applied in such design (e.g. self-administered questionnaire after face-to-face interview)...

'When you are a data collector you must expect anything'. Barriers, boundaries and breakthroughs: insights from the South African data-collection experience.

The impact of the research process on the researcher is an emerging topic of interest. Data collection in most low- and middle-income countries (LMICs) is often the responsibility of community members...

Research progress of congenital preauricular fistula.

Congenital preauricular fistula can be sporadic or genetic. When inherited, it exhibits incomplete autosomal dominant genetic patterns. It can occur alone or with other diseases such as branchio-oto-r...

High Frequency of Multiple HPV Types Detection in Fanconi Anemia Patients Oral Swabs.

Fanconi anemia (FA) is a rare genetic disease usually characterized by bone marrow failure and congenital malformations. The risk of development of malignancies in the oral cavity of FA patients, such...

Medical and Biotech [MESH] Definitions

Systematic gathering of data for a particular purpose from various sources, including questionnaires, interviews, observation, existing records, and electronic devices. The process is usually preliminary to statistical analysis of the data.

A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.

Comprehensive, methodical analysis of complex biological systems by monitoring responses to perturbations of biological processes. Large scale, computerized collection and analysis of the data are used to develop and test models of biological systems.

The application of STATISTICS to biological systems and organisms involving the retrieval or collection, analysis, reduction, and interpretation of qualitative and quantitative data.

Ongoing collection, analysis, and interpretation of ecological data that is used to assess changes in the components, processes, and overall condition and functioning of an ECOSYSTEM.

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