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 +7 more
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De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss-of-Function Variant Resolved by RNA Analysis. [PDF]
Mol Genet Genomic MedThis study describes a girl with DEE, in whom WGS identified candidate variants in HNRNPU, NIPBL, and KANSL1, with only the de novo HNRNPU variant being causative, while the inherited KANSL1 variant, located in a non‐functional duplicated locus, did not contribute to the phenotype.
Akimova D +3 more
europepmc +2 more sources
Visual development in the blepharophimosis syndrome. [PDF]
British Journal of Ophthalmology, 1991 One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is ...
M, Beaconsfield +2 more
openaire +2 more sources
TNOA Journal of Ophthalmic Science and Research, 2021 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We
Reshma Ramakrishnan +2 more
doaj +1 more source
Haploinsufficiency of DNA damage response genes and their potential influence in human genomic disorders [PDF]
, 2008 Genomic disorders are a clinically diverse group of conditions caused by gain, loss or re-orientation of a genomic region containing dosage-sensitive genes.
O'Driscoll, Mark
core +4 more sources
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
core +2 more sources
Factors related to amblyopia in congenital ptosis after frontalis sling surgery
BMC Ophthalmology, 2018 Background Amblyopia is a main concern in children undergoing frontalis sling surgery for repairing congenital ptosis. This study aimed to evaluate factors related to amblyopia in children undergoing frontalis sling surgery.
Youn-Shen Bee +3 more
doaj +1 more source
One-stage correction for blepharophimosis syndrome [PDF]
Eye, 2006 To classify the severity of blepharophimosis, describe associated features and their effects on the incidence of amblyopia and to recommend guidelines for surgical treatment and management of surgical complications.The case records of 23 patients with blepharophimosis syndrome were examined retrospectively.
S-Y, Wu, L, Ma, Y-J, Tsai, J Z-C, Kuo
openaire +2 more sources
Saethre-Chotzen syndrome : cranofacial anomalies caused by genetic changes in the TWIST gene [PDF]
, 2004 In this thesis, one of the most frequently occurring and most variable craniosynostosis syndromes was investigated; Saethre-Chotzen syndrome. Craniosynostosis is the premature obliteration of cranial sutures in the developing embryo. It can also occur in
Heer, I.M. (Inge Marieke) de
core +5 more sources
Indian Journal of Ophthalmology, 2016 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus.
Vasudha Kemmanu +3 more
doaj +1 more source