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Human Molecular Genetics|July 1, 1997
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3S A Feather, A S Woolf, D Donnai, et al.Clinical Dysmorphology|January 1, 1993
Previously unrecognized form of familial spondyloepiphyseal dysplasia tarda with characteristic faciesS M Huson, S Crowley, C M Hall, et al.Cell|July 16, 1993
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardationS J Knight, A V Flannery, M C Hirst, et al.Journal of Medical Genetics|March 1, 1994
Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qterW Reardon, L van Herwerden, C Rose, et al.Journal of Medical Genetics|September 1, 1992
The acrocallosal syndrome and Greig syndrome are not allelic disordersL A Brueton, K A Chotai, L van Herwerden, et al.Archives of Disease in Childhood|July 1, 1988
Pulmonary agenesis as part of the VACTERL sequenceS Knowles, R M Thomas, R H Lindenbaum, et al.Clinical Dysmorphology|October 1, 1996
Extreme intrauterine growth retardation, hydrocephalus and aged facial appearance: a previously unrecognized autosomal recessive disorder?R M Winter, D Shortland, A L Collins, et al.Journal of Medical Genetics|September 1, 1993
Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studiesG M Vintiner, K K Lo, S E Holder, et al.Science (New York, N.Y.)|February 3, 1995
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4Y J de Kok, S M van der Maarel, M Bitner-Glindzicz, et al.Pageof 23