Cytogenetics

Citations 21-25 of 25 total displayed.

Electronic letters
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation

EUGENIA BORGIONE, MARIANGELA LO GIUDICE, ORNELLA GALESI, LUCIA CASTIGLIA, PINELLA FAILLA, CORRADO ROMANO, ANGELA RAGUSA, MARCO FICHERA
J. Med. Genet. 2001; 38: e1. [Extract] [Full text] [PDF] [Request Permissions]  

Original articles
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

Paola Ungaro, Susan L Christian, Judy A Fantes, Apiwat Mutirangura, Susan Black, James Reynolds, Sue Malcolm, William B Dobyns, David H Ledbetter
J. Med. Genet. 2001; 38: 26-34. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Merete Bugge, Gert Bruun-Petersen, Karen Brøndum-Nielsen, Ursula Friedrich, Jan Hansen, Grethe Jensen, Peter K A Jensen, Ulf Kristoffersson, Claes Lundsteen, Erik Niebuhr, Kim R Rasmussen, Kirsten Rasmussen, Niels Tommerup
J. Med. Genet. 2000; 37: 858-865. [Abstract] [Full text] [PDF] [Request Permissions]  

Short reports
Fragile X syndrome with FMR1 and FMR2 deletion

S J Moore, L Strain, G F Cole, Z Miedzybrodzka, K F Kelly, J C S Dean
J. Med. Genet. 1999; 36: 565-566. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

J Wirth, H-G Nothwang, S van der Maarel, C Menzel, G Borck, I Lopez-Pajares, K Brøndum-Nielsen, N Tommerup, M Bugge, H-H Ropers, T Haaf
J. Med. Genet. 1999; 36: 271-278. [Abstract] [Full text] [PDF] [Request Permissions]