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American Journal of Human Genetics|March 1, 1997
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21K Saar, K H Chrzanowska, M Stumm, et al.Blood|September 15, 1995
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtypeH Joenje, J R Lo ten Foe, A B Oostra, et al.Human Molecular Genetics|April 4, 2001
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brainH G Nothwang, H G Kim, J Aoki, et al.Cytogenetic and Genome Research|April 18, 2009
10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequencesT Liehr, M Stumm, R D Wegner, et al.Human Molecular Genetics|January 15, 1999
Characterization of ATM gene mutations in 66 ataxia telangiectasia familiesN Sandoval, M Platzer, A Rosenthal, et al.American Journal of Human Genetics|April 17, 1999
The Fanconi anemia group E gene, FANCE, maps to chromosome 6pQ Waisfisz, K Saar, N V Morgan, et al.Human Molecular Genetics|April 1, 1996
Predominance of null mutations in ataxia-telangiectasiaS Gilad, R Khosravi, D Shkedy, et al.International Journal of Radiation Biology|December 1, 1994
Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1R A Gatti, E Lange, G Rotman, et al.Pageof 6