Sindrome del grido di gatto: differenze tra le versioni
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== Bibliografia ==
* {{cita libro|autore=Giovanni Neri|coautori=Maurizio Genuardi|titolo=Genetica umana e medica|editore=Elsevier|anno=2010|ISBN=88-214-3172-X}}
* Lejeune J., Lafourcade J., Berger R., Vialatte J., Boeswillwald M., Seringe P., Turpin R. ''Trois cas de délétion partielle du bras court d’un chromosome 5''. C R Acad Sci 257:3098–3102,1963.▼
* Overhauser J., Huang X., Gersh M., Wilson W., McMahon J., Bengtsson U., Rojas K., Meyer M., Wasmuth JJ. ''Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.'' Hum Mol Genet 3:247–252,1994.▼
▲Lejeune J., Lafourcade J., Berger R., Vialatte J., Boeswillwald M., Seringe P., Turpin R. ''Trois cas de délétion partielle du bras court d’un chromosome 5''. C R Acad Sci 257:3098–3102,1963.
* Schinzel A. ''Catalogue of unbalanced chromosome aberrations in man''. Walter de Gruyter ed., Berlin, 1984.▼
* Niebuhr E. ''Cytologic observations in 35 individuals with a 5p- karyotype.'' Hum Genet 42:143–146,1978.▼
▲Overhauser J., Huang X., Gersh M., Wilson W., McMahon J., Bengtsson U., Rojas K., Meyer M., Wasmuth JJ. ''Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.'' Hum Mol Genet 3:247–252,1994.
* Overhauser J., McMahon J., Oberlender S., Carlin ME., Niebuhr E., Wasmuth JJ., Lee-Chen J. ''Parental origin of chromosome 5 deletions in the cri du chat syndrome.'' Am J Med Genet 37:83-86,1990.▼
* Medina M., Marinescu RC, Overhauser J., Kosik SK. ''Hemizigosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.'' Genomics 63:157–164,2000.▼
▲Schinzel A. ''Catalogue of unbalanced chromosome aberrations in man''. Walter de Gruyter ed., Berlin, 1984.
* Yuan Y., Singh D., Arikkath J. Mef2 promotes spine elimination in absence of d-catenin. Neurosci Lett 536:10-13,2013. ▼
* Cerruti Mainardi P, Perfumo C, Pastore G, Calì A, Guala A, Biroli E, Liverani ME, Egidi I, Zara F, Zerega G, Overhauser J, Pierluigi M, Dagna Bricarelli F. Cri du chat syndrome. Ital J Pediatr 27: 840-850,2001.▼
▲Niebuhr E. ''Cytologic observations in 35 individuals with a 5p- karyotype.'' Hum Genet 42:143–146,1978.
* Cerruti Mainardi P. La sindrome del cri du chat in età adulta, in: G. Andria, F. Dagna Bricarelli, G. del Porto, M. De Marchi, A. Federico (Eds.). Patologia genetica ad esordio tardivo, Monduzzi, Bologna, 1987, pp. 113–128.
* Cerruti Mainardi P., Perfumo C., Calì A., Coucourde G., Pastore G., Cavani S., Zara F., Overhauser J., Pierluigi M., Dagna Bricarelli F. Clinical and molecular characterization of 80 patients with 5p deletion: genotype–phenotype correlation, J Med Genet 38:151–158,2001.▼
▲Overhauser J., McMahon J., Oberlender S., Carlin ME., Niebuhr E., Wasmuth JJ., Lee-Chen J. ''Parental origin of chromosome 5 deletions in the cri du chat syndrome.'' Am J Med Genet 37:83-86,1990.
* Guala A., Spunton M., Cerruti Mainardi P., Emmig U., Acucella G., Danesino C. Anaesthesia in Cri du Chat syndrome: an investigation on 51 Italian patients. Am J Med Genet, in press 2014.▼
* Cerruti Mainardi P., Pastore G., Castronovo C., Godi M., Guala A., Tamiazzo S., Provera S., Pierluigi M., Dagna Bricarelli F. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet 2006, 49: 363-83.▼
▲Medina M., Marinescu RC, Overhauser J., Kosik SK. ''Hemizigosity of δ-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.'' Genomics 63:157–164,2000.
* Liverani M.E., Spunton M., Cerruti Mainardi P., Dagna Bricarelli F., Danesino C., Guala A. Cri du Chat syndrome: recommendations for the care in children and adults. 7th European Conference on Rare Diseases, 8-10 maggio 2014, Berlino. ▼
* Kjaer I, Niebuhr E. Studies of cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am J Med Genet 82:6-14,1999.▼
▲Yuan Y., Singh D., Arikkath J. Mef2 promotes spine elimination in absence of d-catenin. Neurosci Lett 536:10-13,2013.
* Church DM., Yang J., Bocian M., Shiang R., Wasmuth JJ. A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res. 7:787–801,1997.▼
* Zhang X., Snijders A., Segraves R., Zhang X., Albertson D., Yang H., Gray J., Niebuhr E., Bolund L., Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization, Am J Hum Genet 76:312–326,2005.▼
▲Cerruti Mainardi P, Perfumo C, Pastore G, Calì A, Guala A, Biroli E, Liverani ME, Egidi I, Zara F, Zerega G, Overhauser J, Pierluigi M, Dagna Bricarelli F. Cri du chat syndrome. Ital J Pediatr 27: 840-850,2001.
* Cerruti Mainardi P., Calì A., Guala A., Perfumo C., Liverani ME, Pastore G., Overhauser J., Zara F., Pierluigi M., Dagna Bricarelli F. Phenotype-genotype correlation in 7 patients with 5p/autosome translocations. Risk for carriers of translocations involving 5p. Am J Hum Genet 753:145,2000.▼
* Cerruti Mainardi P.,
* Cerruti Mainardi P., Spunton M., Arcuri V., Pastore G., Pedrinazzi M., Nardi S., Castronovo C., Alessi D., Guala A. The Cri du Chat syndrone: a study on the quality of care. Min Ped 64:395-400,2012. ▼
* Nardi S. La sindrome del cri du chat. Aspetti caratteristici e linee guida applicative. WWW.criduchat.it/riabilitazione.htm▼
▲Cerruti Mainardi P., Perfumo C., Calì A., Coucourde G., Pastore G., Cavani S., Zara F., Overhauser J., Pierluigi M., Dagna Bricarelli F. Clinical and molecular characterization of 80 patients with 5p deletion: genotype–phenotype correlation, J Med Genet 38:151–158,2001.
▲Guala A., Spunton M., Cerruti Mainardi P., Emmig U., Acucella G., Danesino C. Anaesthesia in Cri du Chat syndrome: an investigation on 51 Italian patients. Am J Med Genet, in press 2014.
▲Cerruti Mainardi P., Pastore G., Castronovo C., Godi M., Guala A., Tamiazzo S., Provera S., Pierluigi M., Dagna Bricarelli F. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet 2006, 49: 363-83.
▲Liverani M.E., Spunton M., Cerruti Mainardi P., Dagna Bricarelli F., Danesino C., Guala A. Cri du Chat syndrome: recommendations for the care in children and adults. 7th European Conference on Rare Diseases, 8-10 maggio 2014, Berlino.
▲Kjaer I, Niebuhr E. Studies of cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Am J Med Genet 82:6-14,1999.
▲Church DM., Yang J., Bocian M., Shiang R., Wasmuth JJ. A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res. 7:787–801,1997.
▲Zhang X., Snijders A., Segraves R., Zhang X., Albertson D., Yang H., Gray J., Niebuhr E., Bolund L., Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization, Am J Hum Genet 76:312–326,2005.
▲Cerruti Mainardi P., Calì A., Guala A., Perfumo C., Liverani ME, Pastore G., Overhauser J., Zara F., Pierluigi M., Dagna Bricarelli F. Phenotype-genotype correlation in 7 patients with 5p/autosome translocations. Risk for carriers of translocations involving 5p. Am J Hum Genet 753:145,2000.
▲Cerruti Mainardi P., Spunton M., Arcuri V., Pastore G., Pedrinazzi M., Nardi S., Castronovo C., Alessi D., Guala A. The Cri du Chat syndrone: a study on the quality of care. Min Ped 64:395-400,2012.
▲Nardi S. La sindrome del cri du chat. Aspetti caratteristici e linee guida applicative. WWW.criduchat.it/riabilitazione.htm
== Voci correlate ==
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