Concepedia

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

Verayuth Praphanphoj, Barbara K. Goodman, George H. Thomas, Kerry M. Niel, Carmel Toomes, Michael J. Dixon, Michael T. Geraghty

Genomics · 2000 · 54 citations · 8 references

DOI

Concepts

References

8

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

Joël Zlotogora, M. Sagi, Tara Cohen · PubMed · 1983 · 240 citations

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Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Christine Oley, M Baraitser · Journal of Medical Genetics · 1988 · 128 citations · Full text

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Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p

Marion A. Maw · Human Molecular Genetics · 1996 · 47 citations

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Blepharophimosis syndrome is linked to chromosome 3q

Kent W. Small, Lucretia Fisher, Lynne Mullen et al. · Human Molecular Genetics · 1995 · 47 citations

, , +17

Closing in on the BPES Gene on 3q23: Mapping of ade NovoReciprocal Translocation t(3;4)(q23;p15.2) Breakpoint within a 45-kb Cosmid and Mapping of Three Candidate Genes, RBP1, RBP2, and β′-COP, Distal to the Breakpoint

Nadine Van Roy, Frank Speleman, Yoshimitsu Fukushima et al. · Genomics · 1999 · 30 citations

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