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Cytogenetic and Genome Research|November 25, 2006
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardationF Erdogan, W Chen, M Kirchhoff, et al.The Journal of Investigative Dermatology|September 1, 1994
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e geneH Kremer, P Zeeuwen, W H McLean, et al.European Journal of Medical Genetics|November 14, 2007
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephalyF Erdogan, J M Belloso, E Gabau, et al.Neurology|April 23, 2003
High rate of constitutional chromosomal rearrangements in apparently sporadic ALST Meyer, B Alber, K Roemer, et al.Human Genetics|November 1, 1990
Cloning of the breakpoints of a deletion associated with choroidermiaF P Cremers, F Brunsmann, W Berger, et al.Genomics|January 15, 1996
Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcriptionA M Riesewijk, M T Schepens, T R Welch, et al.Human Genetics|March 1, 1989
Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)H G Brunner, R G Korneluk, M Coerwinkel-Driessen, et al.American Journal of Medical Genetics. Part A|September 12, 2006
4q35 deletion and 10p15 duplication associated with immunodeficiencyS Cingoz, A M Bisgaard, I Bache, et al.Human Molecular Genetics|July 1, 1996
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1S M van der Maarel, I H Scholten, I Huber, et al.American Journal of Medical Genetics|July 12, 1996
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28B C Hamel, H Kremer, E Wesby-van Swaay, et al.Pageof 21