نتایج جستجو برای: lamy
تعداد نتایج: 314 فیلتر نتایج به سال:
[1] We calculate growth rates for extraordinary mode Saturnian kilometric radiation generated by the electron cyclotron maser instability using a ring‐type (DGH) electron phase distribution model fitted to measured electron energy dist r ibut ions in Saturn’s auroral acceleration region. The observed distributions are unstable in spatially isolated regions of transverse linear size of order 10 ...
Since the description of the first three cases of the 'cri du chat' syndrome by Lejeune, Lafourcade, Berger, Vialatte, Boeswillwald, Seringe, and Turpin (1963), 12 patients have been reported on in whom part of the short arms of a chromosome in the 4-5 group were absent (Lejeune, Lafourcade, de Grouchy, and Berger, 1964b; Punnett, Carpenter, and DiGeorge, 1964; Book, Atkins, and Santesson, 1963...
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough under...
Pycnodysostosis is a rare genetic disorder and was first described in 1962 by Maroteaux and Lamy. The incidence of this anomaly is estimated to be 1.7 per 1 million births. The principal characteristics of this disorder are short stature, prominent eyes with blue sclera, beaked nose, cranial dysplasia, exposed fontanelles and cranial sutures, clavicular dysplasia, total/partial dysplasia of the...
FOR THE POPULATION GENETICIST, diabetes mellitus has long presented an enigma. Here is a relatively frequent disease, often interfering with reproduction by virtue of an onset during the reproductive or even pre-reproductive years, with a well-defined genetic basis, perhaps as simple in many families as a single recessive or incompletely recessive gene (cf. Allan, 1933; Pincus and White, 1933, ...
Mucopolysaccharidosis type VI (MPS VI), also called Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficiency of a specific enzyme required for glycosaminoglycan catabolism. Deficiency in the N-acetylgalactosamine-4-sulfatase (4S) enzyme, also called arylsulfatase B (ARSB), may have profound skeletal consequences. In MPS VI, partially degraded glycosamin...
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