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Inicio > Bibliografía
Bibliografía
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Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet (2003) 72:571-577. |
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Coll MD. Cytogenetic, FISH and molecular genetics of Prader-Willi and Angelman syndromes. Cell Pharmacol (1996) 3:209-212. |
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Camprubí, C, Coll MD, Lorente I, Gabau E, Artigas J, Brún C, Guitart M. Screening mutations in Angelman Syndrome gene. Eur J Hum Genet (2001) 9(1):422. |
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Artigas J, Brun C, Gabau E, Guitart M, Camprubí C. Aspectos médicos y conductuales del Síndrome de Angelman. Rev Neurol (2005) 41(11): 649-656. |
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Camprubí C, Gabau E, Artigas J, Coll MD, Guitart M. Del diagnóstico clínico al diagnóstico genético de los síndromes de Prader-Willi y Angelman. Rev Neurol (2006) 42 (S1):61-67. |
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Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martinez MJ, Poyatos D, Guitart M. Imprinting center análysis in Prader-Willi and Angelman síndrome patients with typical and atypical phenotypes. Eur J Med Genet (en prensa) |
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Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet (2003) 40(2):87-95. |
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Poyatos D, Guitart M, Colomer J, Coll MD. Confirmation of Angelman syndrome in a boy previously reported as having Becker muscular dystrophy and severe mental retardation. Eur J Pediatria (1999) 158(12):1006. |
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Poyatos D, Guitart M, Gabau E, Brun C, Milá M, Vaquerizo J, Coll MD. Severe phenotype in Angelman Syndrome resulting from isochromosome 15. J Med Genet (2002) 39:1-6. |
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Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet (1995) 56:237-238. |
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Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B. A single-tube PCR test fort he diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet (1997) 5:94-98. |
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