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Jan Mohr
Jan Gunnar Faye Mohr (10 January 1921 – 17 March 2009) was a Norwegian-Danish physician and geneticist, known for his discovery of the first cases of autosomal genetic linkage in man, between the Lutheran blood groups and the ABH-secretor system, and between these and the hereditary disease myotonic dystrophy. Besides being first steps in mapping the human genome, the findings illustrated the medical potential of linkage analysis in prenatal genetic diagnosis. Mohr is eponymously known by the syndrome Mohr-Tranebjærg, a progressive deafness with X-linked mode of inheritance, which was first described by Jan Mohr, and then more comprehensively by Tranebjærg et al. The 'Mohr syndrome', or oral-facial-digital syndrome type II, is named after Otto Lous Mohr, uncle of Jan Mohr. Biography Jan Mohr was born 1921 in Paris. His father was the Norwegian painter Hugo Lous Mohr. Jan Mohr graduated 1948 from medical school, Oslo University. Then, under the Rockefeller Foundation, studi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Norway
Norway, officially the Kingdom of Norway, is a Nordic country in Northern Europe, the mainland territory of which comprises the western and northernmost portion of the Scandinavian Peninsula. The remote Arctic island of Jan Mayen and the archipelago of Svalbard also form part of Norway. Bouvet Island, located in the Subantarctic, is a dependency of Norway; it also lays claims to the Antarctic territories of Peter I Island and Queen Maud Land. The capital and largest city in Norway is Oslo. Norway has a total area of and had a population of 5,425,270 in January 2022. The country shares a long eastern border with Sweden at a length of . It is bordered by Finland and Russia to the northeast and the Skagerrak strait to the south, on the other side of which are Denmark and the United Kingdom. Norway has an extensive coastline, facing the North Atlantic Ocean and the Barents Sea. The maritime influence dominates Norway's climate, with mild lowland temperatures on the se ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University College London
, mottoeng = Let all come who by merit deserve the most reward , established = , type = Public research university , endowment = £143 million (2020) , budget = £1.544 billion (2019/20) , chancellor = Anne, Princess Royal(as Chancellor of the University of London) , provost = Michael Spence , head_label = Chair of the council , head = Victor L. L. Chu , free_label = Visitor , free = Sir Geoffrey Vos , academic_staff = 9,100 (2020/21) , administrative_staff = 5,855 (2020/21) , students = () , undergrad = () , postgrad = () , coordinates = , campus = Urban , city = London, England , affiliations = , colours = Purple and blue celeste , nickname ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Commission
The European Commission (EC) is the executive of the European Union (EU). It operates as a cabinet government, with 27 members of the Commission (informally known as "Commissioners") headed by a President. It includes an administrative body of about 32,000 European civil servants. The Commission is divided into departments known as Directorates-General (DGs) that can be likened to departments or ministries each headed by a Director-General who is responsible to a Commissioner. There is one member per member state, but members are bound by their oath of office to represent the general interest of the EU as a whole rather than their home state. The Commission President (currently Ursula von der Leyen) is proposed by the European Council (the 27 heads of state/governments) and elected by the European Parliament. The Council of the European Union then nominates the other members of the Commission in agreement with the nominated President, and the 27 members as a team are then ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Emeritus
''Emeritus'' (; female: ''emerita'') is an adjective used to designate a retired chair, professor, pastor, bishop, pope, director, president, prime minister, rabbi, emperor, or other person who has been "permitted to retain as an honorary title the rank of the last office held". In some cases, the term is conferred automatically upon all persons who retire at a given rank, but in others, it remains a mark of distinguished service awarded selectively on retirement. It is also used when a person of distinction in a profession retires or hands over the position, enabling their former rank to be retained in their title, e.g., "professor emeritus". The term ''emeritus'' does not necessarily signify that a person has relinquished all the duties of their former position, and they may continue to exercise some of them. In the description of deceased professors emeritus listed at U.S. universities, the title ''emeritus'' is replaced by indicating the years of their appointmentsThe Protoc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Society Of Human Genetics
The European Society of Human Genetics (ESHG) is a non-profit organization that promotes research, facilitates communication and encourages best practice in applications of human and medical genetics, particularly in Europe. The society organizes the annual European Human Genetics Conference and publishes the European Journal of Human Genetics The ''European Journal of Human Genetics'' is a monthly peer-reviewed scientific journal published by the Nature Publishing Group on behalf of the European Society of Human Genetics. It covers all aspects of human genetics. Abstracting and index .... References Sources * * 1967 establishments in Austria Biology in Europe Genetics societies International organisations based in Vienna International scientific organizations based in Europe {{genetics-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kåre Berg
Kåre Ingmar Berg, MD (1 March 1932 – 24 January 2009) was a Norwegian professor in medical genetics, physician-in-chief and well-cited researcher. Education and positions Kåre Berg was born in Hammerfest. He graduated as MD in 1957 and dr.med. in 1964 at the University of Oslo. From 1964 to 1967 he was a fellow researcher at Rockefeller University, New York. In 1967 he became the first professor in medical genetics in Norway at the University of Oslo. In 1976 he became head of department of medical genetics at Ullevål University Hospital and held this position until retirement in 2002. In the period 1993-2002 he was physician-in-chief at the Center of Preventive Medicine at Ullevål University Hospital. As a head of department of medical genetics at Ullevål University Hospital, Berg was in many years leader of all genetic prenatal diagnostics in Norway. In addition, he was in charge of genetic counseling of the population of Oslo. Research In the early days of his care ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
An International Journal Of Genetics In Medicine
An, AN, aN, or an may refer to: Businesses and organizations * Airlinair (IATA airline code AN) * Alleanza Nazionale, a former political party in Italy * AnimeNEXT, an annual anime convention located in New Jersey * Anime North, a Canadian anime convention * Ansett Australia, a major Australian airline group that is now defunct (IATA designator AN) * Apalachicola Northern Railroad (reporting mark AN) 1903–2002 ** AN Railway, a successor company, 2002– * Aryan Nations, a white supremacist religious organization * Australian National Railways Commission, an Australian rail operator from 1975 until 1987 * Antonov, a Ukrainian (formerly Soviet) aircraft manufacturing and services company, as a model prefix Entertainment and media * Antv, an Indonesian television network * ''Astronomische Nachrichten'', or ''Astronomical Notes'', an international astronomy journal * '' Avisa Nordland'', a Norwegian newspaper * '' Sweet Bean'' (あん), a 2015 Japanese film also know ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Batten Disease
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least 20 genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the ''CLN3'' gene. It was first described in 1903. Signs and symptoms Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems or seizures. Early signs may be subtle p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis
Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly healthy. CFTR is involved in the production of sweat, digestive fluids, and mucus. When the CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hans Eiberg
Hans Eiberg, (born 8 April 1945) is a Danish geneticist, known for his discovery of the genetic mutation causing blue eyes. Hans Eiberg graduated as a M.Sc. in 1970. He has worked with genetics at the Institute for Medical Biochemistry and Genetics of Copenhagen University since 1971, and became an associate professor at the institute in 1975. In 1972, he and professor Jan Mohr established the Copenhagen Family Bank, a database of DNA samples from approximately 1000 large Danish families. Hans Eiberg contributed to the mapping of the human genome, and has succeeded in finding important genetic markers for several serious illnesses such as cystic fibrosis, Batten disease and various diseases of the eye. He has also shown that bedwetting Nocturnal enuresis, also informally called bedwetting, is involuntary urination while asleep after the age at which bladder control usually begins. Bedwetting in children and adults can result in emotional stress. Complications can incl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Professor
Professor (commonly abbreviated as Prof.) is an Academy, academic rank at university, universities and other post-secondary education and research institutions in most countries. Literally, ''professor'' derives from Latin as a "person who professes". Professors are usually experts in their field and teachers of the highest rank. In most systems of List of academic ranks, academic ranks, "professor" as an unqualified title refers only to the most senior academic position, sometimes informally known as "full professor". In some countries and institutions, the word "professor" is also used in titles of lower ranks such as associate professor and assistant professor; this is particularly the case in the United States, where the unqualified word is also used colloquially to refer to associate and assistant professors as well. This usage would be considered incorrect among other academic communities. However, the otherwise unqualified title "Professor" designated with a capital let ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Oslo
The University of Oslo ( no, Universitetet i Oslo; la, Universitas Osloensis) is a public research university located in Oslo, Norway. It is the highest ranked and oldest university in Norway. It is consistently ranked among the top universities in the world and as one of the leading universities of Northern Europe; the Academic Ranking of World Universities ranked it the 58th best university in the world and the third best in the Nordic countries. In 2016, the Times Higher Education World University Rankings listed the university at 63rd, making it the highest ranked Norwegian university. Originally named the Royal Frederick University, the university was established in 1811 as the de facto Norwegian continuation of Denmark-Norway's common university, the University of Copenhagen, with which it shares many traditions. It was named for King Frederick VI of Denmark and Norway, and received its current name in 1939. The university was commonly nicknamed "The Royal Frederick ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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