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Human Molecular Genetics|April 4, 2002
Novel ENU-induced eye mutations in the mouse: models for human eye diseaseCaroline Thaung, Katrine West, Brian J Clark, et al.
Human Molecular Genetics|April 4, 2002
Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse spermYun Zhang, Darren G Monckton, Michael J Siciliano, et al.
Human Molecular Genetics|March 5, 2002
A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 miceBo Chang, Xin Wang, Norman L Hawes, et al.
Human Molecular Genetics|March 5, 2002
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cellsDavid J Kwiatkowski, Hongbing Zhang, Jennifer L Bandura, et al.
Human Molecular Genetics|March 5, 2002
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSara J Bowne, Lori S Sullivan, Susan H Blanton, et al.
Human Molecular Genetics|March 5, 2002
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiencyVibeke Westphal, Susanne Kjaergaard, Els Schollen, et al.
Human Molecular Genetics|March 5, 2002
Mutations in the RPGR gene cause X-linked cone dystrophyZhenglin Yang, Neal S Peachey, Darius M Moshfeghi, et al.
Human Molecular Genetics|October 1, 1993
Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 EoJ G Dauwerse, J W Wessels, R H Giles, et al.
Human Molecular Genetics|October 1, 1993
A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndromeN Tommerup, L Aagaard, C L Lund, et al.
Human Molecular Genetics|October 1, 1993
Characterization and chromosomal localization of the human proto-oncogene BMI-1M J Alkema, J Wiegant, A K Raap, et al.
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