James Lupski
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James Lupski
James R. Lupski (born February 22, 1957) is the Cullen Endowed Chair in Molecular Genetics and Professor in the Department of Pediatrics at Baylor College of Medicine. Lupski obtained his BA degree from New York University in 1979 and his PhD and MD degrees in 1984 and 1985, respectively, from the same institution. He later moved for his Residency in Pediatrics to Baylor College of Medicine, where he has stayed since. Lupski is affected by a genetic disease called Charcot-Marie-Tooth (CMT) and has studied the condition throughout his entire research career. He has also contributed to the discovery and definition of other genomic disorders caused by chromosomal copy number changes and several genetic diseases including Potocki-Lupski syndrome. See also * Potocki–Lupski syndrome Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 ...
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Pediatrics
Pediatrics (American English) also spelled paediatrics (British English), is the branch of medicine that involves the medical care of infants, children, Adolescence, adolescents, and young adults. In the United Kingdom, pediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A physician, medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children", derived from the two Ancient Greek, Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires reso ...
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Baylor College Of Medicine
The Baylor College of Medicine (BCM) is a private medical school in Houston, Texas, United States. Originally as the Baylor University College of Medicine from 1903 to 1969, the college became independent with the current name and has been separate from Baylor University since 1969. The college consists of four schools: the School of Medicine, the Graduate School of Biomedical Sciences, the School of Health Professions, and the National School of Tropical Medicine. The school is part owner, alongside Catholic Health Initiatives (CHI), of Baylor St. Luke's Medical Center, the flagship hospital of the CHI St. Luke's Health system. Other affiliated teaching hospitals and research institutes include Harris Health System's Ben Taub Hospital, Texas Children's Hospital, The University of Texas MD Anderson Cancer Center, TIRR Memorial Hermann, the Menninger Clinic, the Michael E. DeBakey VA Medical Center, and the Children's Hospital of San Antonio. On November 18, 2020, Bay ...
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Potocki–Lupski Syndrome
Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine. PTLS was the first predicted reciprocal of a homologous recombination (microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome. Its reciprocal disease is Smith–Magenis syndrome (SMS), in which the chromosome portion duplicated in PTLS is deleted altogether. Potocki–Lupski syndrome is considered a rare di ...
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Living People
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Baylor College Of Medicine Physicians And Researchers
Baylor may refer to: __NOTOC__ American schools * Baylor University, Waco, Texas ** Baylor Bears, the sports teams of Baylor University * Baylor College of Medicine, Houston, Texas * Texas A&M University Baylor College of Dentistry, Dallas, Texas (Baylor name deleted in 2016) * Baylor College of Medicine Academy at Ryan, a middle school in Houston, Texas * Baylor School, a private prep school in Chattanooga, Tennessee Places in the United States *Baylor, West Virginia, an unincorporated community *Baylor County, Texas, named for Henry Weidner Baylor *Baylor Creek Reservoir, a lake in Texas People *Baylor (surname), a list of people * Baylor Cupp Baylor Cupp (born May 10, 2000) is an American professional football tight end. He played college football for the Texas A&M Aggies and for the Texas Tech Red Raiders. Early life Cupp attended high school at Brock. Coming out of high schoo ... (born 2000), American football player * Baylor Scheierman (born 2000), American basketba ...
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1957 Births
Events January * January 1 – The Saarland joins West Germany. * January 3 – Hamilton Watch Company introduces the first electric watch. * January 5 – South African player Russell Endean becomes the first batsman to be Dismissal (cricket), dismissed for having handled the ball, in Test cricket. * January 9 – British Prime Minister Anthony Eden resigns. * January 10 – Harold Macmillan becomes Prime Minister of the United Kingdom. * January 11 – The African Convention is founded in Dakar. * January 14 – Kripalu Maharaj is named fifth Jagadguru (world teacher), after giving seven days of speeches before 500 Hindu scholars. * January 15 – The film ''Throne of Blood'', Akira Kurosawa's reworking of ''Macbeth'', is released in Japan. * January 20 ** Israel withdraws from the Sinai Peninsula (captured from Egypt on October 29, 1956). * January 26 – The Ibirapuera Planetarium (the first in the Southern Hemisphere) is inaugurated in the city of São Paulo, Brazil. F ...
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American Pediatricians
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label that was previously known as Def American * American University, in Washington, D.C. Sports teams S ...
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New York University Grossman School Of Medicine Alumni
New or NEW may refer to: Music * New, singer of K-pop group The Boyz * ''New'' (album), by Paul McCartney, 2013 ** "New" (Paul McCartney song), 2013 * ''New'' (EP), by Regurgitator, 1995 * "New" (Daya song), 2017 * "New" (No Doubt song), 1999 * "new", a song by Loona from the 2017 single album '' Yves'' * "The New", a song by Interpol from the 2002 album ''Turn On the Bright Lights'' Transportation * Lakefront Airport, New Orleans, U.S., IATA airport code NEW * Newcraighall railway station, Scotland, station code NEW Other uses * ''New'' (film), a 2004 Tamil movie * New (surname), an English family name * NEW (TV station), in Australia * new and delete (C++), in the computer programming language * Net economic welfare, a proposed macroeconomic indicator * Net explosive weight, also known as net explosive quantity * Network of enlightened Women, an American organization * Newar language, ISO 639-2/3 language code new * Next Entertainment World, a South Korean media company ...
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Members Of The National Academy Of Medicine
Member may refer to: * Military jury, referred to as "Members" in military jargon * Element (mathematics), an object that belongs to a mathematical set * In object-oriented programming, a member of a class ** Field (computer science), entries in a database ** Member variable, a variable that is associated with a specific object * Limb (anatomy), an appendage of the human or animal body ** Euphemism for penis * Structural component of a truss, connected by nodes * User (computing), a person making use of a computing service, especially on the Internet * Member (geology), a component of a geological formation * Member of parliament * The Members, a British punk rock band * Meronymy, a semantic relationship in linguistics * Church membership, belonging to a local Christian congregation, a Christian denomination and the universal Church * Member, a participant in a club or learned society A learned society ( ; also scholarly, intellectual, or academic society) is an organizatio ...
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Physicians With Disabilities
A physician, medical practitioner (British 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, which is the science of medicine, and a decent competence in its applied practice, which is the art or craft of the profession. Both the role of the physician and the meaning of the word itself vary ar ...
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