A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation.

Por Lorda-Sanchez, I, Binkert, F, Maechler, M, Schinzel, A
Publicado em 1991

Multiple origins of X chromosome tetrasomy.

Por Robinson, W P, Binkert, F, Schinzel, A A, Basaran, S, Mikelsaar, R
Publicado em 1994

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

No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.

Por Schinzel, A A, Adelsberger, P A, Binkert, F, Basaran, S, Antonarakis, S E
Publicado em 1992

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

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.

Por Antonarakis, S E, Adelsberger, P A, Petersen, M B, Binkert, F, Schinzel, A A
Publicado em 1990

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

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

Por Petersen, M B, Adelsberger, P A, Schinzel, A A, Binkert, F, Hinkel, G K, Antonarakis, S E
Publicado em 1991

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Por Robinson, W P, Binkert, F, Bernasconi, F, Lorda-Sanchez, I, Werder, E A, Schinzel, A A
Publicado em 1995

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Por Robinson, W P, Bottani, A, Xie, Y G, Balakrishman, J, Binkert, F, Mächler, M, Prader, A, Schinzel, A
Publicado em 1991

Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Por Schinzel, A, Binkert, F, Lillington, D M, Sands, M, Stocks, R J, Lindenbaum, R H, Matthews, H, Sheridan, H
Publicado em 1991

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Por Petersen, M B, Schinzel, A A, Binkert, F, Tranebjaerg, L, Mikkelsen, M, Collins, F A, Economou, E P, Antonarakis, S E
Publicado em 1991

Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.

Por Schinzel, A, Lorda-Sanchez, I, Binkert, F, Carter, N P, Bebb, C E, Ferguson-Smith, M A, Eiholzer, U, Zachmann, M, Robinson, W P
Publicado em 1995

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