Results 101 to 110 of about 3,111 (197)

Structure, evolution and expression of the FOXL2 transcription unit [PDF]

, 2003
COCQUET, J, De Baere, Elfride, FELLOUS, M, GAREIL, M, PANNETIER, M, VEITIA, RA, XIA, X   +6 more
core   +2 more sources

An unusual case of ptosis [PDF]

, 2017
Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim.
K, Abhilash
core   +1 more source

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [PDF]

, 2007
De Baere, Elfride, Jitendra, Jethani, Nallathambi, Jeyabalan, Neethirajan, Guruswamy, Sundaresan, Periasamy, Usha, Kim   +5 more
core   +2 more sources

Clinical correlates of congenital blepharoptosis or what have we learned over a five-year period? [PDF]

Introduction:Blepharoptosis is described as a condition of narrowed eyelid slit caused by a drooping or lower position of the upper eyelid of one or both eyes.Aim:The aim of this article is to analyse the clinical features, associations with eyelid and ...
Boyanova, Kremena, Sredkova, Milena
core   +2 more sources

Blepharophimosis syndrome: An atypical case [PDF]

Eye, 1994
S Sandramouli, S M Betharia
openaire   +1 more source

A rare case of adult-onset blepharophimosis, ptosis, and epicanthus inversus syndrome: Case report [PDF]

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic condition caused by a mutation in the FOXL2 gene and it is inherited in an autosomal dominant pattern.
Bhat, Manoj Y, Bhimalli, Shruthi, S, Mahesha   +2 more
core   +2 more sources

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II [PDF]

, 2012
Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF).
De Baere, Elfride, Gohari, Nasrollah Saleh, Haghighi, Alireza, Haghighi-Kakhki, Hamidreza, Piri, Niloofar, Verdin, Hannah   +5 more
core   +1 more source

Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A

Dermatology and Therapy
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities.
Panittra Suphatsathienkul, Kullasate Sakpichaisakul, Thanin Wechapinan, Objoon Trachoo, Sorawit Virawan, Rungsima Wanitphakdeedecha   +5 more
doaj   +1 more source

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family

Journal of the ASEAN Federation of Endocrine Societies, 2017
Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF).
Abhinav Kumar Gupta, Deepak Chand Gupta, Saqib Ahmad Khan, Syed Mohd Razi   +3 more
doaj  

Inherited epithelial transporter disorders—an overview [PDF]

, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M., Bürzle, M., Hediger, M., Simonin, A.   +3 more
core