Results 21 to 30 of about 3,428 (220)

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain [PDF]

, 2013
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism.
BEYSEN, DIANE, Carvalho, Claudio MB, D'haene, Barbara, De Baere, Elfride, Lapunzina, Pablo, Lupski, James R, Menten, Björn, Nevado, Julian, Novikova, Yana, Sante, Tom, Verdin, Hannah   +10 more
core   +10 more sources

Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis [PDF]

International Journal of Ophthalmology, 2019
AIM: To conduct a systematic review and Meta-analysis of the published literature to evaluate the pooled prevalence rate of amblyopia in patients with congenital ptosis.
Jia-Ying Zhang, Xiao-Wei Zhu, Xia Ding, Ming Lin, Jin Li   +4 more
doaj   +1 more source

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review. [PDF]

Clin Genet
This study analyses 29 new Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) patients with BRPF1 variants and reveals a broad phenotypic spectrum, including novel features such as palpebral oedema. It highlights the variability in clinical expression, underlines the importance of ophthalmological assessment and detailed ...
Colson C, Tessarech M, Boucher-Brischoux E, Boute-Benejean O, Vincent-Delorme C, Vanlerberghe C, Boussion S, Cunff JL, Duban-Bedu B, Faivre L, Thauvin C, Philippe C, Bruel AL, Tran Mau-Them F, Houdayer C, Lesca G, Putoux A, Lévy J, Patat O, Rio M, Ghoumid J, Smol T.   +21 more
europepmc   +2 more sources

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome

BMC Ophthalmology, 2022
Purpose To evaluate the surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome.
Ahmed Ali Amer, Marwa Mahmoud Abdellah, Nader Hussein Fouad Hassan, Amr Mounir   +3 more
doaj   +1 more source

Surgical management of blepharophimosis syndrome

Indian Journal of Ophthalmology, 1983
Betharia S, Dayal Y, Kalra B
doaj   +2 more sources

BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Molecular Genetics & Genomic Medicine, 2019
Background Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat   +9 more
doaj   +1 more source

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome [PDF]

, 2016
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study.
A v Cruz, A, Akaishi, P, Araujo Silva, W, Chodraui-Filho, S, Cintra, M, Duarte, AF, Molfetta, G, Toscano, A   +7 more
core   +1 more source

Roles of binding elements, FOXL2 domains, and interactions with cJUN and SMADs in regulation of FSHβ. [PDF]

, 2014
We previously identified FOXL2 as a critical component in FSHβ gene transcription. Here, we show that mice deficient in FOXL2 have lower levels of gonadotropin gene expression and fewer LH- and FSH-containing cells, but the same level of other pituitary ...
Barakat, Nermeen H, Breen, Kellie M, Coss, Djurdjica, Hambarchyan, Arpi, Meadows, Jason D, Mellon, Pamela L, Pepa, Patricia A, Roybal, Lacey L   +7 more
core   +1 more source

Suspensory materials for surgery of blepharoptosis: a systematic review of observational studies [PDF]

, 2016
Background Frontalis suspension surgery is considered the procedure of choice in cases of blepharoptosis. Among all the materials used in this type of surgery, ophthalmic and plastic surgeons prefer to use autologous Fascia Lata.
Amorelli, Giulia Maria, BOTTONE, Andrea, LA TORRE, Giuseppe, MIPATRINI, DANIELE, PACELLA, Elena, PACELLA, FERNANDA, SMALDONE, GIANPAOLO, TURCHETTI, PAOLO   +7 more
core   +6 more sources

Congenital Ectropion in Three Babies in the University of Benin Teaching Hospital, Nigeria

Nigerian Journal of Medicine, 2022
Congenital ectropion is a rare condition affecting newborns, in which the upper eyelid is turned outwards. Its etiology and pathogenesis, while not yet clear, are associated with congenital lid disorders such as blepharophimosis syndrome, congenital ...
Rachel Onyeka Enebe, Oseluese Anastasia Dawodu   +1 more
doaj   +1 more source