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Journal of Medical Genetics|September 3, 2002
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate geneS Eyre, P Roby, K Wolstencroft, et al.
Human Molecular Genetics|September 1, 1995
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mappingS Nicole, C Ben Hamida, P Beighton, et al.
Human Genetics|September 1, 1990
Delta F508 testing of the DNA bank of the Royal Manchester Children's HospitalM J Schwarz, M Super, C Wallis, et al.
American Journal of Medical Genetics|January 1, 1991
Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner familiesA De Paepe, D Viljoen, M Matton, et al.
Human Genetics|January 1, 1985
Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome)K E Davies, M G Mattei, J F Mattei, et al.
American Journal of Human Genetics|May 20, 1999
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsM T Bassi, R S Ramesar, B Caciotti, et al.
American Journal of Human Genetics|October 1, 1992
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasiaW A Sweetman, B Rash, B Sykes, et al.
American Journal of Human Genetics|May 11, 1992
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortiumL A Farrer, K M Grundfast, J Amos, et al.
American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
Nature Genetics|December 2, 2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)S Nicole, C S Davoine, H Topaloglu, et al.
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