TY  - JOUR
A1  - Gessler, Manfred
A1  - Bruns, Gail A. P.
T1  - Molecular mapping and cloning of the breakpoints of a chromosome 11p14.1-p13 deletion associated with the AGR syndrome
N2  - Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell Unes with known WAGR-related chromosome abnormalities for rearrangements with pulsed fleld gel (PFG) analysis using probes deleted from one chromosome 11 homolog of a WAGR patient. The first alteration was detected in a cell line from an individual with aniridia, genitourinary anomalies, mental retardation, and a deletion described as 11p14.1-p13. We have located one breakpoint close to probe HU11-164B and we have cloned both breakpoint sites as well as the junctional fragment. The breakpoints subdivide current intervals on the genetic map, and the probes for both sides will serve as important additional markers for a long-range restriction map of this region. Further characterization and sequencing of the breakpoints may yield insight into the mechanisms by which these deletions occur.
KW  - Biochemie
Y1  - 1988
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-59264
ER  - 
TY  - JOUR
A1  - Gessler, Manfred
A1  - Poustka, Annemarie
A1  - Cavenee, Webster
A1  - Neve, Rachael L.
A1  - Orkin, Stuart H.
A1  - Bruns, Gail A.
T1  - Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
N2  - No abstract available
Y1  - 1990
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30122
ER  - 
TY  - JOUR
A1  - Gessler, Manfred
A1  - Bruns, Gail A.
T1  - Sequence of the WT1 upstream region including the Wit-1 gene
N2  - No abstract available
Y1  - 1993
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30193
ER  - 
TY  - RPRT
A1  - Gessler, Manfred
A1  - Simola, Kalle O.
A1  - Bruns, Gail A. P.
T1  - Cloning of breakpoints of a chromosome translocation identifies the AN2 locus
N2  - Chromosome translocations involving llpl3 have been associated with familial aniridia in two kindreds highlighting the chromosomal localization of the AN2 locus. This locus is also part of the WAGR complex (Wilros tumor, aniridia, genitourinary abnormalities, and mental retardation). In one kindred, the translocation is associated with a deletion, and probes for this region were used to identify and clone the breakpoints of the translocation in the second kindred. Comparison of phage restriction maps exclude the presence of any sizable deletion in this case. Sequences at the chromosome 11 breakpoint are conserved in multiple species, suggesting that the translocation falls within the AN2 gene.
Y1  - 1989
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-30177
ER  -