Amplification of Short Tandem Repeat Loci: Performance of Different Polymerases and Radionucleotides

Autor: Birgitta Winnepenninckx, Thierry Backeljau

Publikováno v: BioTechniques, Vol 24, Iss 1, Pp 34-38 (1998)

Externí odkaz: https://doaj.org/article/519a40ec729d4db2bbd7a1ebf9a6b66d

CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1

Autor: David R. FitzPatrick, Kim Debacker, Dominique Smeets, R. Frank Kooy, Birgitta Winnepenninckx, Arie P. T. Smits, Jacqueline Ramsay

Publikováno v: American Journal of Human Genetics, 80, 221-31
Winnepenninckx, B, Debacker, K, Ramsay, J, Smeets, D, Smits, A, FitzPatrick, D R & Kooy, R F 2007, ' CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1 ', American Journal of Human Genetics, vol. 80, no. 2, pp. 221-31 . https://doi.org/10.1086/510800
American Journal of Human Genetics, 80, 2, pp. 221-31
The American journal of human genetics

Item does not contain fulltext A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify an elongated polymorphic CGG repeat as the molecular basis o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0f45cf6c5384aae551c8073844c6b1
https://doi.org/10.1086/510800

A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9)

Autor: R F Kooy, Charles E. Schwartz, Alfons Meindl, Juliane Ramser, V Errijgers, C Lenski, Birgitta Winnepenninckx, M Platzer

Publikováno v: Journal of medical genetics

Mental retardation is the most frequent cause of serious handicap in children and young adults. The underlying causes of this heterogeneous condition are both acquired and genetically based. A recently performed refinement of the linkage interval in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b366ae8a88e4b9e4c06ea20effb9124
https://doi.org/10.1136/jmg.2004.019000

Allozyme diversity in slugs of the Carinarion complex (Mollusca, Pulmonata)

Autor: S. Van Dongen, L. De Bruyn, Birgitta Winnepenninckx, Thierry Backeljau, H. De Wolf, Kurt Jordaens

Publikováno v: Heredity

Previous allozyme analyses of the hermaphroditic terrestrial slugs Arion fasciatus, A. circumscriptus and A. silvaticus (subgenus Carinarion) have suggested that in North America these species are each single monomorphic strains. However, new data on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dcaafb02dd74496dcbce460f7329086
https://doi.org/10.1038/hdy.1997.68

FRA18C, a new aphidicolin inducable fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage

Autor: Stefaan Scheers, Kim Debacker, Batsheva Kerem, R. Frank Kooy, Neta Ben-Porat, David R. FitzPatrick, Birgitta Winnepenninckx, Rob van Luijk

Publikováno v: Journal of medical genetics

Fragile sites are specific genomic loci that form gaps, constrictions and breaks on chromosomes exposed to replication stress conditions. In the father of a patient with Beckwith-Wiedemann syndrome and a pure truncation of 18q22-qter, a new aphidicol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e7c23f51d25dd4b2a1edb4ac1400e16
https://hdl.handle.net/10067/636250151162165141