Download Overgrowth Syndromes (Oxford Monographs on Medical Genetics) by M. Michael Cohen PDF

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By M. Michael Cohen

Overgrowth Syndromes provides a huge but in-depth dialogue of kids who're huge at beginning or event over the top postnatal development or a few mixture of elevated weight, size, and head circumference. a lot of those syndromes are linked to an elevated frequency of tumors. The publication is necessary as a result of the ever-increasing variety of newly pointed out overgrowth syndromes and the fast development of molecular wisdom of those stipulations. It covers: Beckwith Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, Klippel-Trenaunay syndrome, neurofibromatosis, and fragile X syndrome, between different issues. every one bankruptcy offers a ancient viewpoint and offers with epidemiology, etiology, and molecular biology while recognized, scientific and pathological positive aspects, diagnostic standards, and differential prognosis. The ebook is encyclopedic in scope. it is going to be of price to pediatricians, scientific geneticists, oncologists, hematologists, surgeons, pathologists, radiologists, dermatologists, nephrologists, and molecular biologists.

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Extra resources for Overgrowth Syndromes (Oxford Monographs on Medical Genetics)

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Lubinsky M, Herrmann J, Kosseff AL, Opitz JM: Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome. Lancet 1:932, 1974. Lubinsky MS, Hall JG: Genomic imprinting, monozygous twinning, and X inactivation [letter] [see comments]. Lancet 337:1288, 1991. Maher ER, Reik W: Beckwith-Wiedemann syndrome: Imprinting in clusters revisited [see comments]. J Clin Invest 105:247-252, 2000. 3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Eur J Hum Genet 2:3-23, 1994.

43. Hark AT, Schoenherr CJ, Katz DJ, Ingram RS, Levorse JM, Tilghman SM: CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus [see comments]. Nature 405:486^89, 2000. 44. Hatada I, Ohashi H, Fukushima Y, Kaneko Y, Inoue M, Komoto Y, Okada A, Ohishi S, Nabetani A, Morisaki H, Nakayama M, Niikawa N, Mukai T: An imprinted gene p57Klp2 is mutated in Beckwith-Wiedemann syndrome [see comments]. Nat Genet 14:171-173, 1996. 45. Hoyme HE, Seaver LH, Jones KL, Procopio F, Crooks W, Feingold M: Isolated hemihyperplasia (hemihypertrophy): Report of a prospective multicenter study of the incidence of neoplasia and review.

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