• "Zbieganie się razem to początek. Trzymanie się razem to postęp. Wspólna praca to sukces." (Henry Ford)
  • kontakt@criduchat.pl

Bibliografia

  1. Baccichetti C.: Del(5p) without “cri du chat” phenotype. Hum Genet 1982; 60:389.
  2. Baccichetti C., Lenzini E., Artifoni L., Caufin D., Marangoni P.: Terminal deletion of
    the short arm of chromosome 5. Clin Genet 1988; 34: 219-223.
  3. Carlin M.E.: The improved prognosis in cri du chat (5p-) syndrome. [w:] Procedings
    of the 8th Congress of the International Association for Scientific Study of Mental Deficiency,
    wyd. Fraser WI, Edinburgh: Blackwell 1990: 64-73.
  4. Cerruti Mainardi P., Vianello M.G., Bonioli E.: Considerazioni su 5 casi di sindrome
    di “cri du chat”. Minerva Pediatr 1976; 28: 2389-2400.
  5. Cerruti Mainardi P.: La sindrome del cri du chat in età adulta. [w:] Andria G., Dagna
    Bricarelli F., del Porto G., De Marchi M., Federico A.: Patologia genetica ad esordio
    tardivo. Bologna: Monduzzi 1987: 113-128.
  6. Cerruti Mainardi P., Pastore G., Guala A.: Sindrome del cri du chat. [w:] Balestrazzi
    P.: Linee guida assistenziali nel bambino con sindrome malformativa. Milano: CSH
    1994: 75-90.
  7. Cerruti Mainardi P., Guala A., Pastore G., Pozzo G., Dagna Bricarelli F., Pierluigi M.:
    Psychomotor development in cri du chat syndrome. Clin Genet 2000; 57: 459-461.
  8. Cerruti Mainardi P., Calì A., Guala A., Perfumo C., Liverani M.E., 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 2000; 67: 145.
  9. 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
    2001; 38: 151-158.
  10. Ciaglia R., Lenci F., Caruso T., Celano A., Cerruti Mainardi P.: Aspetti odontostomatologici
    nella sindrome del cri du chat. W przygotowaniu.
  11. Ciotti F., Biasini G., Panizon F.: Pediatria dello sviluppo. Roma: La Nuova Italia
    Scientifica, 1994.
  12. Clarke D.J., Boer H.: Problem behaviors associated with deletion Prader Willi,
    Smith-Magenis, and Cri du Chat Syndromes. Am J Ment Retard 1998; 103: 264271.
  13. Cornish K.M., Pigram J.: Developmental and behavioural characteristics of Cri du
    Chat syndrome. Arch Dis Child 1996; 75: 448-450.
  14. Cornish K.M., Bramble D., Collins M.: Cri du Chat Syndrome. Guide lines for Parent
    and Professionals. Cri Du Chat Syndrome Support Group, 1998.
  15. Cornish K.M., Bramble D., Munir F., Pigram J.: Cognitive functioning in children
    with typical cri du chat (5p-) syndrome. Dev Med Child Neurol 1999;
    4: 263-266.
  16. Cornish K.M., Cross G., Green A., Willatt L., Bradshaw J.M.: A neuropsychological-
    genetic profile of atypical cri du chat syndrome: implications for prognosis. J Med
    Genet 1999; 36: 567-570.
  17. Dallapiccola B.: Malattia del “cri du chat” (5p-). [w:] La patologia cromosomica
    – Atti dei Congressi della Società Italiana di Medicina Interna, 74° Kongres; Montecatini,
    21-24 października. Roma, L. Pozzi, 1973: 416436.
  18. Dallapiccola B., Pistocchi G., Forabosco A., Capra L.: Skeletal changes in the “cri
    du chat” syndrome. Acta Genet Med Gemellol 1973; 22: 39-44.
  19. Dallapiccola B.: Sindrome del “cri du chat”. [w:] Mastroiacovo P., Dallapiccola
    B., Andria G., Camera G., Lungaroti M.S.: Difetti congeniti e sindromi malformative.
    McGraw Hill Libri Italia, Mediolan, 1990: 254-255.
  20. Dykens E.M., Clarke D.J.: Correlates of maladaptative behavior in individuals with
    5p-(cri du chat) syndrome. Dev Med Child Neurol 1997; 39: 752-756.
  21. Estivill E., de Béjar S.: Fate la nanna. Florencja: La Mandragora sp. z o.o. 1999.
  22. Frankenburg W.K., Dodds J.B., Archer P., Shapiro H., Bresnick B.: The Denver II: a
    major revision restandardization of the Denver Developmental Screening Test. Pediatr
    1992; 89: 91-97.
  23. Hodapp R.M., Wijma C.A., Masino L.L.: Families of children with 5p-(cri du
    chat) syndrome: familial stress and sibling reactions. Dev Med Child Neurol 1997;
    39: 757-761.
  24. 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 (D) 1963; 257: 3098-3102.
  25. Marinescu R.C., Cerruti Mainardi P., Collins M.R., Kouahou M., Coucourde G.,
    Pastore G., Eaton-Evans J., Overhauser J.: Growth charts for cri du chat syndrome: an
    international collaborative study. Am J Med Genet 2000; 94: 153-162.
  26. Medina M., Marinescu R.C., Overhauser J., Kosik S.K.: Hemizigosity of dcatenin
    (CTNND2) is associated with severe mental retardation in cri-duchat syndrome. Genomics
    2000; 63: 157-164.
  27. Medolago Albani L.M.: La riabilitazione dei bambini affetti dalla sindrome del Cri
    du Chat: quando il bambino piange come un gatto. Missione Salute 1997; 3: 54-55.
  28. Niebuhr E.: The cat cry syndrome (5p-) in adolescents and adults. J Ment Defic Res
    1971; 15: 277-291.
  29. Niebuhr E.: The cri du chat syndrome. Epidemiology, cytogenetics and clinical features.
    Hum Genet 1978; 44: 227-275.
  30. Niebuhr E.: Antropometry in the Cri du Chat syndrome. Clin Genet 1979; 16: 82-95.
  31. Overhauser J., Huang X., Gersh M., Wilson W., McMahon J., Bengtsson U., Rojas K.,
    Meyer M., Wasmuth J.J.: Molecular and phenotypic mapping of the short arm of chromosome
    5: sublocalization of the critical region for the criduchat
    syndrome. Hum Mol
    Genet 1994; 3: 247-252.
  32. Perfumo C., Cerruti Mainardi P., Calì A., Coucourde G., Zara F., Cavani S., Overhauser
    J., Dagna Bricarelli F., Pierluigi M.: The first three mosaic cri du chat syndrome
    patients with two rearranged cell lines. J Med Genet 2000; 37: 967-972.
  33. Pizzamiglio M.R., Piccardi L., Massarelli C., Leoni S., Boschetti V., Saraco R.:
    Protocollo di trattamento neuropsicologico per i bambini con sindrome cri du chat. I
    Quaderni nr19, I.R.C.C.S. Fundacja S. Lucia. Roma: Erre sp. z o.o. grudzień 2000.
  34. Rizzi M.: Valutazione immunologica in pazienti affetti dalla sindrome del cri du
    chat 5p-. Praca dyplomowa, Wydział Medycyny i Chirurgii na Uniwersytecie w Mediolanie,
    rok akademicki 1996-97.
  35. Simmons A.D., Pueschel A.W., McPherson J.D., Overhauser J., Lovett M.: Molecular
    cloning and mapping of human Semaphorin F from the Cri-du-Chat candidate interval.
    Biochem Biophys Res Com 1998; 242: 685-691.
  36. Wilkins L.E., Brown J.A., Nance W.E., Wolf B.: Clinical heterogeneity in 80 homereared
    children with cridu-chat syndrome. J Pediatr 1983; 102: 528-533.
  37. Campbell D.J. (2002), Early Development of Individuals with Cri‐du‐chat Syndrome, niepublikowana rozprawa doktorska, Auburn University, Auburn.
  38. Carlin M.E. (1990), The improved prognosis in Criduchat(5P) syndrome, (in:) W.I. Fraser (ed.), Proceedings of the 8th Congress of the International Association of Scientific Study of Mental Deficiency, Edinburgh, UK: Blackwell.
  39. Collins M., Cornish K.M. (2002), A Survey of the Prevalence of Stereotypy, Selfinjury and Aggression in Children and Young Adults with Cri du Chat Syndrome, “Journal of Intelectual Disabilities Research”, 46 (2).Cornish K.M., Bramble D. (2002), CriduChat
  40. Syndrome: From Genotype to Phenotype and Implication for Clinical Management, “Developmental Medicine and Child Neurology”, 44 (7).
  41. Cornish K.M., Bramble D., Munir F., Pigram J. (1999), Cognitive Functioning in Children with Typical CriduChat Syndrome, “Developmental Medicine and Child Neurology”, 41.
  42. Cornish K.M., Cross G., Greek A., Willatt L., Bradshaw J.M.A. (1999), NeuropsychologicalGenetic Profile of Atypical Cri du Chat Syndrome: Implications for Prognosis, “Journal of Medical Genetics”, 39.
  43. Czapiga A. (2008), Dziecko z zespołem Cri du Chat, (w:) B. Cytkowska, B. Winczura, A. Stawaski(red.), Dzieci chore, niepełnosprawne i z utrudnieniami w rozwoju, Oficyna Wydawnicza Impuls, Kraków.
  44. Czapiga A. (red.) (2003), Psychospołeczne problemy rozwoju dziecka. Aspekty diagnostyczne i terapeutyczne, Wydawnictwo Adam Marszałek, Toruń.
  45. Czochańska J., Lange A., Starostecka E., Piotrowicz M., Indisow I., Buczek A. (2001), Zespół CDC u 14 miesięcznego dziecka. Opis przypadku, „Neurologia Dziecięca”, 10.
  46. Drewa G., Ferenc T. (red.) (2003), Podstawy genetyki, Wydawnictwo Medyczne Urban&Partner, Wrocław.
  47. Kjaer I., Niebuhr E. (1999), Studies of the cranial base in 23 patients with criduchat syndrome suggest a cranial developmental field involved in the condition, „American Journal of Medical Genetics”, 82, p. 6‐14.
  48. Korniszewski L. (2005), Dziecko z zespołem wad wrodzonych. Diagnostyka dysmorficzna,Wydawnictwo Lekarskie PZWL, Warszawa.
  49. Maciejewska H. (2006), Zależność pomiędzy zaburzeniami adaptacyjnymi u jednostek z syndromem Cri du Chat, http://www.gen.org.pl/nuke/index.phd [28.12.2006].
  50. Mazurczak T. (2004), Choroby genetyczne, (w:) K. Kubicka, W. Kawalec (red.), Pediatria,Wydawnictwo Lekarskie PZWL, Warszawa.
  51. Meinardi P.C. (2006), Cri du Chat syndrome, “Orphanet Journal of Rare Diseases”, 1.33.
  52. Posmyk R., Midro A.T. (2003), Poradnictwo genetyczne w zespole monosomii 5p („krzykukociego”). Część 1. Diagnoza fenotypu. Fenotyp morfologiczny i fenotyp zachowania (behawioralny),
  53. „Przegląd Pediatryczny”, 33.4, s. 256‐272.
  54. Wilkins L.E., Brown J.A., Nance W.E., Wolf B. (1983), Clinical heterogeneity in 80 homerearedchildren with Cri du Chat syndrome, “The Journal of Pediatrics”, 102 (4).
  55. http://www.fivepminus.org.
  56. http://www.gen.org.pl.
  57. http://ghr.nlm.nih.gov/condition/cri‐du‐chat‐syndrome.
  58. http://www.medizinischegenetik.de/index.php.
  59. http://www.5p‐syndrom.de/content/medinfo/info.html.
  60. http://www.criduchat.eu
  61. www.orpha.net

Tłumaczenie strony / Translate page »