Blepharophimosis

Known as: Decreased width of palpebral fissure, Blepharophimosis [Disease/Finding], Narrow opening between the eyelids 
The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1948-2017
010203019482016

Papers overview

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2005
2005
The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at… (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
2002
Highly Cited
2002
Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally… (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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Highly Cited
2001
Highly Cited
2001
Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial… (More)
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1993
1993
The frontalis suspension technique is the surgical method of choice in ptosis patients with a levator function of 2 mm or less… (More)
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1984
1984
This study confirms the previously suggested high incidence of menstrual irregularity and infertility in females with the… (More)
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Highly Cited
1983
Highly Cited
1983
The blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is rare and autosomal dominant. A family is presented and… (More)
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