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Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36: 437–446
Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GCM, Clayton-Smith J (2003) Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 40: 233–241
Graham JM, Hoehn H, Lin MS, Smith DW (1981) Diploid-triploid mixoploidy: Clinical and cytogenetic aspects. Pediatrics 68: 23–28
Greenswag LR (1987) Adults with Prader-Willi syndrome: a survey of 232 cases. Dev Med Child Neurol 29: 145–152
Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ (1993) Modification of the DNA methylation imprint in unique Angelman and Prader-Willi patients. Hum Molec Genet 2: 1377–1382
Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JFN, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (2002) Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nature Genet 31: 79–83
Katsanis N, Lupski JR, Beales PL (2001) Exploring the molecular basis of Bardet-Biedl syndrome. Hum Molec Genet 10: 2293–2299
Kivitie-Kallio S, Norio R (2001) Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet 102: 125–135
Kolehmainen J, Black GCM, Saarinen A, Chandler K, Clayton-Smith J, Traskelin A, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE (2003) Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 72: 1359–1369
Meinecke P, Engelbrecht R (1988) Fehlbildungs-Retardierungssyndrom infolge inkompletter Triploidie. Monatsschr Kinderheilkd 136: 206–209
Michaud JL, Heon E, Guilbert F, Weill J, Puech B, Benson L, Smallhom JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Breviere GM (1996) Natural history of Alstrom syndrome in early childhood: onset with dilated cardiomyopathy. J Pediat 128: 225–229
Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll DJ, Horsthemke B, Butler MG, Nicholls RD (1999) Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet 64: 397–413
Prader A, Labhart A, Willi H (1956) Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wschr 86: 1260–1261
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DSI, Taylor JFN (1998) Alstrom syndrome: report of 22 cases and literature review. Ophthalmology 105: 1274–1280
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Pankau, R. (2005). Syndromale Formen der Adipositas. In: Wabitsch, M., Kiess, W., Hebebrand, J., Zwiauer, K. (eds) Adipositas bei Kindern und Jugendlichen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-26775-1_4
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DOI: https://doi.org/10.1007/3-540-26775-1_4
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