Concepedia

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

Diana Wolff, Karen M. Gustashaw, Vickie Zurcher, Lara M. Ko, Wendy White, Lester Weiss, Daniel L. Van Dyke, Stuart Schwartz, Huntington F. Willard

Human Genetics · 1997 · 66 citations · 19 references

DOI

Concepts

References

19

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

, , +12

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

, , +14

Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) <i>n</i>

Eric J. Kremer, Melanie Pritchard, Michael Lynch et al. · Science · 1991 · 923 citations

, , +11

High Resolution of Human Chromosomes

Jorge J. Yunis · Science · 1976 · 784 citations

, , +13

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

François Rousseau, Dominique Heitz, Jack Tarleton et al. · PubMed · 1994 · 294 citations

, , +17