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BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

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

Related topics

Related topics

17 relations
AmenorrheaAutosomal dominant inheritanceBlepharoptosisByzanthine arch palate

Broader (4)

BlepharophimosisEyelid DiseasesSkin AbnormalitiesUrogenital Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
In vivo detection and replication studies of α-anomeric lesions of 2′-deoxyribonucleosides
DNA damage, arising from endogenous metabolism or exposure to environmental agents, may perturb the transmission of genetic… 
Highly Cited
2010
Highly Cited
2010
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report.
FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated… 
2007
2007
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
Purpose Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation… 
2005
2005
A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.
Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is… 
2003
2003
Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis‐Ptosis… 
1998
1998
A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.
Homeodomain (HD) proteins are transcription regulators controlling a variety of cell fates. The HD region characterizing this… 
1998
1998
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
BACKGROUND Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition mapped to chromosome… 
1997
1997
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion
Abstract Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis… 
1993
1993
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?
We report on a girl with the blepharophimosis sequence (BPES), microcephaly of postnatal onset, mild developmental retardation… 
1991
1991
Further evidence for the location of the BPES gene at 3q2.
Nilbert et al3 reported a uterine leiomyosarcoma with a t(8;13). In addition, several uterine leiomyomas with structural or… 
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