L'angolo del genetista
Ibridazione in situ fluorescente e suoi utilizzi diagnostici in citogenetica
ELIANA DEMORI, DANIELA GAMBEL BENUSSI, ARIELLA LUCHESI, ANNA RACCANELLI, MICHELA MONTICOLO, BEATRICE PASTORE, VANNA PACILE
Servizio di Genetica, IRCCS “Burlo Garofolo”, Trieste
Gennaio 2000 - pagg. 44 -46
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
1. Licher P, Cremer T. Chromosome Analysis
by non Isotopic in situ Hybridization. In:
A Pratical Approach, Vol. I: Constitutional
Analysis, II edizione, Oxford University
press, cap. 6, pp 157-192, 1992.
2. Ried T, Landes G, Dackowski W, Klinger K, Ward DC. Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells. Hum Mol Genet 1992;1(5):307-13.
3. Matsuoka R, Kimura M, Scambler PJ, et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 1998;103(1):70-80.
4. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletion of the elastin gene at 7p11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995;56(5):1156-61.
5. Erdel M, Schuffenhaurer S, Buchholz B, Barth-Witte U, Kochl S, Utermann B, Duba HC, Utermann G. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10). Hum Genet 1996;97:784-93.
6. Sakamoto M, Ono J, Okada S, Masuno M, Nakamura Y, Kurahashi H. Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome. Hum Genet 1998;103(5):586-9.
7. Juyal RC, Figuera LE, Huage X, Elsea SH, Lupski JR, Greenberg F, Baldini A, I. Patel I. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 1996;58:998-1007.
8. Monforte-Munoz H, Lopez-Terreda D, Affendie H, Rowland JM, Triche TJ. Documentation of EWS gene rearrangements by fluorescence in-situ hybridization (FISH) in frozen sections of Ewing’s sarcoma-peripheral primitive neuroectodermal tumor. Am J Surg Pathol 1999;23(3):309-15.
9. Arnoldus EPJ, Wiegant J, Noordermeer IA, Wessels JW, Beverstock GC, Grosveld GC, van der Ploeg M, Raap AK. Detection of the Philadelpia chromosomes in interfase nuclei. Cytogenet Cell Genet 1990;54:108-11.
2. Ried T, Landes G, Dackowski W, Klinger K, Ward DC. Multicolor fluorescence in situ hybridization for the simultaneous detection of probe sets for chromosomes 13, 18, 21, X and Y in uncultured amniotic fluid cells. Hum Mol Genet 1992;1(5):307-13.
3. Matsuoka R, Kimura M, Scambler PJ, et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 1998;103(1):70-80.
4. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. Deletion of the elastin gene at 7p11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995;56(5):1156-61.
5. Erdel M, Schuffenhaurer S, Buchholz B, Barth-Witte U, Kochl S, Utermann B, Duba HC, Utermann G. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10). Hum Genet 1996;97:784-93.
6. Sakamoto M, Ono J, Okada S, Masuno M, Nakamura Y, Kurahashi H. Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome. Hum Genet 1998;103(5):586-9.
7. Juyal RC, Figuera LE, Huage X, Elsea SH, Lupski JR, Greenberg F, Baldini A, I. Patel I. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 1996;58:998-1007.
8. Monforte-Munoz H, Lopez-Terreda D, Affendie H, Rowland JM, Triche TJ. Documentation of EWS gene rearrangements by fluorescence in-situ hybridization (FISH) in frozen sections of Ewing’s sarcoma-peripheral primitive neuroectodermal tumor. Am J Surg Pathol 1999;23(3):309-15.
9. Arnoldus EPJ, Wiegant J, Noordermeer IA, Wessels JW, Beverstock GC, Grosveld GC, van der Ploeg M, Raap AK. Detection of the Philadelpia chromosomes in interfase nuclei. Cytogenet Cell Genet 1990;54:108-11.