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Archives of Ophthalmology (Chicago, Ill. : 1960)|April 25, 2001
Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneityL A Donoso, A T Frost, E M Stone, et al.
American Journal of Medical Genetics|November 15, 1992
Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibsH Karlinsky, J M Berg, A Lennox, et al.
Nature|December 19, 1985
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophyP N Ray, B Belfall, C Duff, et al.
Clinical Genetics|July 13, 2010
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disordersA M Innes, K M Boycott, E G Puffenberger, et al.
Nature|June 2, 1988
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscleE E Zubrzycka-Gaarn, D E Bulman, G Karpati, et al.
Ophthalmology|May 1, 1994
Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophyD A Sigesmund, R G Weleber, D A Pillers, et al.
Science (New York, N.Y.)|November 4, 1988
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophyS B Malhotra, K A Hart, H J Klamut, et al.
American Journal of Human Genetics|August 1, 1992
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qterC Wijmenga, L A Sandkuijl, P Moerer, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|November 1, 1993
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndromeD A Pillers, W K Seltzer, B R Powell, et al.
Human Molecular Genetics|December 26, 2001
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1R Weksberg, J Nishikawa, O Caluseriu, et al.
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