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Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).
TLDR
This study illustrates that hypervariable STRs will be powerful tools for linkage analysis and genetic diagnosis, particularly when relatively small families are involved. Expand
A leucine to arginine amino acid substitution at codon 46 of rhodopsin is responsible for a severe form of autosomal dominant retinitis pigmentosa
TLDR
Full‐field electroretinograms in four affected members of the family showed nondetectable rod responses at an early age, with markedly reduced cone responses, and a faster than average rate of progression of the phenotype as measured by yearly ERGs. Expand
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
TLDR
A linkage study in 4 multigenerational families with hypochondroplasia and mutational analysis of nucleotide 1138 in one individual from each of these families, two nonfamilial hypochondraplasia individuals and sequencing of the transmembrane domain of the FGFR3 in three affected unrelated individuals are reported. Expand
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV
TLDR
A novel de novo 104 kb genomic deletion upstream of FOXF1 is identified in a patient with histopathologically verified full phenotype of ACDMPV, allowing for substantial narrowing and bisulfite sequencing of the FoxF1 enhancer region on 16q24.1 provided new insights into its regulatory function and genomic imprinting. Expand
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family
TLDR
Findings provide indirect evidence that sarcosine formation may be affected by two additional components besides the apo moiety of sarcOSine dehydrogenase, the availability of tetrahydrofolic acid as a one carbon unit carrier and the integrity of the transmethylase which catalyzes the direct transmethylation of glycine to sarcosines. Expand
Confirmatory linkage study of hypochondroplasia
TLDR
The results of this study provide confirmatory evidence that achondroplasia and hypochondroPLasia map to the same chromosomal location and suggests that they are indeed allelic conditions. Expand