Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion

Por Baumer, A, Riegel, M, Schinzel, A
Publicado em 2004

Maternal uniparental isodisomy 11q13→qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13→qter

Por Kotzot, D., Rothlisberger, B., Riegel, M., Schinzel, A.
Publicado em 2001

A supernumerary marker chromosome originating from two different regions of chromosome 18

Por Rothlisberger, B., Chrzanowska, K., Balmer, D., Riegel, M., Schinzel, A.
Publicado em 2000

Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11·2 microdeletion and partial DiGeorge syndrome

Por Eberle, P, Berger, C, Junge, S, Dougoud, S, Büchel, E Valsangiacomo, Riegel, M, Schinzel, A, Seger, R, Güngör, T
Publicado em 2009

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

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Por De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, SGuerneri, Lalatta, F, Zelante, L, Romano, C, Fichera, Ma, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, Zuffardi, O
Publicado em 2007