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}}
*1) 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.
 
*1) 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.
2) 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.
 
2) 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.
3) Schinzel A. ''Catalogue of unbalanced chromosome aberrations in man''. Walter de Gruyter ed., Berlin, 1984.
 
3) Schinzel A. ''Catalogue of unbalanced chromosome aberrations in man''. Walter de Gruyter ed., Berlin, 1984.
4) Niebuhr E. ''Cytologic observations in 35 individuals with a 5p- karyotype.'' Hum Genet 42:143–146,1978.
 
4) Niebuhr E. ''Cytologic observations in 35 individuals with a 5p- karyotype.'' Hum Genet 42:143–146,1978.
5) 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.
 
6)Overhauser MedinaJ., MMcMahon J., MarinescuOberlender RCS., OverhauserCarlin JME., KosikNiebuhr SKE., ''HemizigosityWasmuth ofJJ., δLee-cateninChen (CTNND2)J. is''Parental associatedorigin withof severechromosome mental5 retardationdeletions in the cri- du- chat syndrome.'' GenomicsAm 63J Med Genet 37:157–16483-86,20001990.
 
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.
7) Yuan Y., Singh D., Arikkath J. Mef2 promotes spine elimination in absence of d-catenin. Neurosci Lett 536:10-13,2013. 
 
7) Yuan Y., Singh D., Arikkath J. Mef2 promotes spine elimination in absence of d-catenin. Neurosci Lett 536:10-13,2013. 
8) 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.
 
8) 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.
9) 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. 
 
9) 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. 
10) 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.
 
10) 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.
11) 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.
 
12)Guala Cerruti Mainardi P., Pastore G., Castronovo CA., GodiSpunton M., GualaCerruti A.,Mainardi Tamiazzo SP., ProveraEmmig SU., PierluigiAcucella MG., DagnaDanesino Bricarelli FC. The natural historyAnaesthesia ofin Cri du Chat Syndrome.syndrome: Aan reportinvestigation fromon the51 Italian Registerpatients. EurAm J Med Genet 2006, 49:in press 363-832014.
 
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.
 13) 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. 
 
 13) 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. 
14) 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.
 
14) 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.
15) 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.
 
16)Church Zhang X., Snijders A., Segraves R., Zhang X., Albertson DDM., Yang HJ., GrayBocian JM., NiebuhrShiang ER.,  BolundWasmuth LJJ., Pinkel D.A Highhigh-resolution mappingphysical ofand genotype-phenotypetranscript relationshipsmap inof the cri du chat syndromeregion usingof arrayhuman comparativechromosome genomic5p. hybridization,Genome Am J Hum GenetRes. 767:312–326787–801,20051997.
 
17)Zhang Cerruti Mainardi PX., CalìSnijders A., GualaSegraves AR., PerfumoZhang CX., LiveraniAlbertson MED., PastoreYang GH., OverhauserGray J., ZaraNiebuhr FE., Pierluigi Bolund ML., DagnaPinkel Bricarelli FD. PhenotypeHigh-genotyperesolution correlationmapping inof 7genotype-phenotype patientsrelationships within 5p/autosomecri translocations.du Riskchat forsyndrome carriersusing ofarray translocationscomparative involvinggenomic 5p.hybridization, Am J Hum Genet 75376:145312–326,20002005.
 
18) Cerruti Mainardi P., Calì A., Guala A., PastorePerfumo GC., PozzoLiverani ME, Pastore G., DagnaOverhauser BricarelliJ., Zara F., Pierluigi M., Dagna Bricarelli F. PsychomotorPhenotype-genotype developmentcorrelation in cri7 dupatients chatwith sindrome5p/autosome translocations. ClinRisk for carriers of translocations involving 5p. Am J Hum Genet 57753:459–461145,2000.
 
19) Cerruti Mainardi P., SpuntonGuala M., Arcuri VA., Pastore G., PedrinazziPozzo MG., NardiDagna S., CastronovoBricarelli CF., AlessiPierluigi DM., GualaPsychomotor A.development Thein Cricri du Chat syndrone: a study on the quality ofchat caresindrome. MinClin PedGenet 6457:395-400459–461,20122000. 
 
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. 
20) Nardi S. La sindrome del cri du chat. Aspetti caratteristici e linee guida applicative. WWW.criduchat.it/riabilitazione.htm
 
20) 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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== Associazioni di pazienti==
* [[[http://www.criduchat.it A.B.C. ASSOCIAZIONE BAMBINI CRI DU CHAT]]]
 
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