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Jean-Loup Huret
Jean Loup Huret (born 1951) is a French scientist and medical practitioner specialist in genetics, honorary associate professor of medical genetics of the French Universities, working on chromosome abnormalities. Huret has discovered the first case of Down syndrome with a normal karyotype. He proved, in collaboration with Pierre Marie Sinet's team, that it was due to a microduplication (less than 3 Mb) of DNA on chromosome 21, demonstrating that only a very few genes alteration could be responsible for most of the phenotype in a chromosome aberration syndrome. From this further arose the concept of critical region in chromosome syndromes (e.g Down syndrome critical region). Huret is the creator in 1997 and editor in chief of the "Atlas of Genetics and Cytogenetics in Oncology and Haematology", an encyclopaedia, scientific journal, and database in free access on the Internet (45,000 pages, of which more than 10,000 pages have been written by more than 3,000 authors, 4,500 visitor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scientist
A scientist is a person who conducts Scientific method, scientific research to advance knowledge in an Branches of science, area of the natural sciences. In classical antiquity, there was no real ancient analog of a modern scientist. Instead, philosophers engaged in the philosophical study of nature called natural philosophy, a precursor of natural science. Though Thales (circa 624-545 BC) was arguably the first scientist for describing how cosmic events may be seen as natural, not necessarily caused by gods,Frank N. Magill''The Ancient World: Dictionary of World Biography'', Volume 1 Routledge, 2003 it was not until the 19th century in science, 19th century that the term ''scientist'' came into regular use after it was coined by the theologian, philosopher, and historian of science William Whewell in 1833. In modern times, many scientists have Terminal degree, advanced degrees in an area of science and pursue careers in various Sector (economic), sectors of the economy such ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Practitioner
A physician (American English), medical practitioner (Commonwealth English), medical doctor, or simply doctor, is a health professional who practices medicine, which is concerned with promoting, maintaining or restoring health through the study, diagnosis, prognosis and treatment of disease, injury, and other physical and mental impairments. Physicians may focus their practice on certain disease categories, types of patients, and methods of treatment—known as specialities—or they may assume responsibility for the provision of continuing and comprehensive medical care to individuals, families, and communities—known as general practice. Medical practice properly requires both a detailed knowledge of the academic disciplines, such as anatomy and physiology, underlying diseases and their treatment—the ''science'' of medicine—and also a decent competence in its applied practice—the art or ''craft'' of medicine. Both the role of the physician and the meaning ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome Abnormalities
A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. Numerical abnormality An abnormal number of chromosomes is called aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosome ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Down Syndrome
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an eight- or nine-year-old child, but this can vary widely. The parents of the affected individual are usually genetically normal. The probability increases from less than 0.1% in 20-year-old mothers to 3% in those of age 45. The extra chromosome is believed to occur by chance, with no known behavioral activity or environmental factor that changes the probability. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing or after birth by direct observation and genetic testing. Since the introduction of screening, Down syndrome pregnancies are often abor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Karyotype
A karyotype is the general appearance of the complete set of metaphase chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are organized in pairs, ordered by size and position of centromere for chromosomes of the same size. Karyotyping generally combines light microscopy and photography, and results in a photomicrographic (or simply micrographic) karyogram. In contrast, a schematic karyogram is a designed graphic representation of a karyotype. In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book ''The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as cad ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atlas Of Genetics And Cytogenetics In Oncology And Haematology
The Atlas of Genetics and Cytogenetics in Oncology and Haematology, created in 1997 by Jean-Loup Huret (with bioinformatics by Philippe Dessen) is a collection of resources on genes, chromosomes anomalies, leukemias, solid tumours, and cancer-prone diseases. The project is accessible through Internet and is made of encyclopedic-style files, as well as traditional overviews, links towards websites and databases devoted to cancer and/or genetics, case reports in haematology. It also encompasses teaching items in various languages. Starting first from cytogenetics in the nineteens, the Atlas now combines different types of knowledge in a single web site: genes and their function, cell biology (ex: Apoptosis), pathological data, diseases and their clinical implications, cytogenetics, but also medical genetics, with hereditary disorders associated with an increased risk of cancer. This gives a wider and more global view of cancer genetics, while these data are usually dispersed. It inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Encyclopaedia
An encyclopedia (American English) or encyclopædia (British English) is a reference work or compendium providing summaries of knowledge either general or special to a particular field or discipline. Encyclopedias are divided into articles or entries that are arranged alphabetically by article name or by thematic categories, or else are hyperlinked and searchable. Encyclopedia entries are longer and more detailed than those in most dictionaries. Generally speaking, encyclopedia articles focus on '' factual information'' concerning the subject named in the article's title; this is unlike dictionary entries, which focus on linguistic information about words, such as their etymology, meaning, pronunciation, use, and grammatical forms.Béjoint, Henri (2000)''Modern Lexicography'', pp. 30–31. Oxford University Press. Encyclopedias have existed for around 2,000 years and have evolved considerably during that time as regards language (written in a major international or a verna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scientific Journal
In academic publishing, a scientific journal is a periodical publication intended to further the progress of science, usually by reporting new research. Content Articles in scientific journals are mostly written by active scientists such as students, researchers, and professors instead of professional journalists. There are thousands of scientific journals in publication, and many more have been published at various points in the past (see list of scientific journals). Most journals are highly specialized, although some of the oldest journals such as ''Nature'' publish articles and scientific papers across a wide range of scientific fields. Scientific journals contain articles that have been peer reviewed, in an attempt to ensure that articles meet the journal's standards of quality and scientific validity. Although scientific journals are superficially similar to professional magazines, they are actually quite different. Issues of a scientific journal are rarely read casuall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Database
In computing, a database is an organized collection of data stored and accessed electronically. Small databases can be stored on a file system, while large databases are hosted on computer clusters or cloud storage. The design of databases spans formal techniques and practical considerations, including data modeling, efficient data representation and storage, query languages, security and privacy of sensitive data, and distributed computing issues, including supporting concurrent access and fault tolerance. A database management system (DBMS) is the software that interacts with end users, applications, and the database itself to capture and analyze the data. The DBMS software additionally encompasses the core facilities provided to administer the database. The sum total of the database, the DBMS and the associated applications can be referred to as a database system. Often the term "database" is also used loosely to refer to any of the DBMS, the database system or an appli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
