Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl

Por BRECEVIC, L., BASARAN, S., DUTLY, F., ROTHLISBERGER, B., SCHINZEL, A.
Publicado em 2000

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

Por Schinzel, A, Braegger, C P, Brecevic, L, Dutly, F, Binkert, F
Publicado em 1997

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: e...

Por Schinzel, A, Brecevic, L, Dutly, F, Baumer, A, Binkert, F, Largo, R H
Publicado em 1997

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

Por Utkus, A., Sorokina, I., Kucinskas, V., Rothlisberger, B., Balmer, D., Brecevic, L., Schinzel, A.
Publicado em 1999

Intrachromosomal triplication of 15q11-q13.

Por Schinzel, A A, Brecevic, L, Bernasconi, F, Binkert, F, Berthet, F, Wuilloud, A, Robinson, W P
Publicado em 1994

Human Ring Chromosomes – New Insights for their Clinical Significance

Por Guilherme, RS, Klein, E, Hamid, AB, Bhatt, S, Volleth, M, Polityko, A, Kulpanovich, A, Dufke, A, Albrecht, B, Morlot, S, Brecevic, L, Petersen, MB, Manolakos, E, Kosyakova, N, Liehr, T
Publicado em 201

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Por Kotzot, D., Martinez, M., Bagci, G., Basaran, S., Baumer, A., Binkert, F., Brecevic, L., Castellan, C., Chrzanowska, K., Dutly, F., Gutkowska, A., Karauzum, S. B., Krajewska-Walasek, M., Luleci, G., Miny, P., Riegel, M., Schuffenhauer, S., Seidel, H., Schinzel, A.
Publicado em 2000