BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

Known as: Blepharophimosis Syndrome, Blepharophimosis, Ptosis, and Epicanthus Inversus Type I, BPES 
 
National Institutes of Health

Papers overview

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2016
2016
OBJECTIVE Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in… (More)
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2014
2014
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We… (More)
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2012
2012
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids… (More)
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2007
2007
PURPOSE Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation… (More)
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Highly Cited
2004
Highly Cited
2004
Human Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) type I is an autosomal dominant disorder associated with… (More)
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Highly Cited
2004
Highly Cited
2004
FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in… (More)
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Highly Cited
2003
Highly Cited
2003
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a human disorder caused by mutations in the forkhead transcription… (More)
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Highly Cited
2001
Highly Cited
2001
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus… (More)
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2000
2000
Blepharophimosis, ptosis, epicanthus inversus syndrome type I (BPES; OMIM 110100) is an autosomal dominant disorder affecting… (More)
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