Results 101 to 110 of about 635 (159)

Are we recording BPE? [PDF]

British Dental Journal, 2020
H, Malik, P, Momin
openaire   +2 more sources

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

, 2010
Distal interstitial deletions of chromosome 14 involving the 14q24-q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically.
Bache, I., Hanne Jensen, Jensen, Hanne, Niels Tommerup, Jensen, H., Tommerup, N., Brøndum-Nielsen, Karen, Ropers, H., Zeynep Tümer, Brondum-Nielsen, K., Bjerglund, L., Tommerup, Niels, Lise Bjerglund, Iben Bache, Hans-Hilger Ropers, Bjerglund, Lise, Brondum-Nielsen, Karen, Ropers, Hans-Hilger, Tümer, Zeynep, Tumer, Z., Sultan Cingöz, Cingoz, S., Cingöz, Sultan, Bache, Iben, Karen Brøndum-Nielsen   +24 more
core   +1 more source

Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome

Frontiers in Genetics
Introduction: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare inherited disorder. This study was aimed to identify and functionally validate FOXL2 variants in two Chinese families with BPES.Methods: The proband and his family ...
Mingyu Zhao, Xiaolu Meng, Jiaqi Wang, Tailing Wang   +3 more
doaj   +1 more source

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype

, 2016
We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome.
Dogan, Murat, Demir, Nihat, Kocaman, Selami, Bulut, Mehmet Deniz, Bulan, Keziban, Uner, Abdurrahman, Kaba, Sultan   +6 more
core   +1 more source

Enhanced wireless cell stimulation using soft and improved bipolar electroactive conducting polymer templates

, 2022
Bipolar electrostimulation (BPES) invoked using organic conducting polymers (CPs) has provided a unique route to communicating with living cells. This work brings new dimensions to BPES in terms of the conducting polymer composition and the ability to ...
Chunyan Qin (6650069), Robert J Forster (7953290), Gordon G Wallace (8377320), Xu Feng Huang (20252310), Jun Chen (4238), Zhilian Yue (6384035)   +5 more
core   +1 more source

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.

PLoS Genetics, 2009
To date, the contribution of disrupted potentially cis-regulatory conserved non-coding sequences (CNCs) to human disease is most likely underestimated, as no systematic screens for putative deleterious variations in CNCs have been conducted.
Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere   +20 more
doaj   +1 more source

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome [PDF]

, 2005
The expression of a gene requires not only a normal coding sequence but also intact regulatory regions, which can be located at large distances from the target genes, as demonstrated for an increasing number of developmental genes.
De Baere, Elfride, Van De Peer, Y., Oley, C., Fellous, M., Veitia, RA, Yates, JR, Lapunzina, P, De Paepe, Anne, Peer, Y. V., Fellous, M, Fryns, J. P., Thomson, J., Meire, F, Oley, C, Fryns, JP, Leroy, B.P., Brooks, S. Sklower, Ilyina, H., Meire, Françoise, Leroy, BP, Ilyina, H, Fryns, J.P., Messiaen, LM, Van de Peer, Y, Splitt, M., Peer, Y. Van de, Bevsen, D, Yates, J.R.W., Beysen, D., Meire, F., Splitt, M, Yates, J. R., De Baere, E., Fellous, Marc, Lemyre, E, Van de Peer, Yves, Raes, J., Kim, J.R., Fryns, Jean-Pierre, Messiaen, L.M., De Paepe, A., BEYSEN, DIANE, Lapunzina, P., Brooks, SS, Veitia, R. A., Oley, Christine, Lucassen, A, Kim, J. R., Lemyre, E., Kim, JR, Christin-Maitre, S., Ilyna, H, Clayton-Smith, J., De Baere, E, Christin-Maitre, S, Thomson, J, Yates, JRW, Brooks, S. S., Messiaen, L. M., Leroy, B. P., Veitia, R.A., Raes, J, De Paepe, A, Clayton-Smith, J, Yates, J. R W, Lucassen, A., Messiaen, Ludwine, Leroy, Bart, Raes, Jeroen   +68 more
core   +1 more source

Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population

Indian Journal of Ophthalmology, 2018
Purpose: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM).
Abhidnya Surve, Rachna Meel, Neelam Pushker, M S Bajaj   +3 more
doaj   +1 more source

Bipolar Electrochemical Stimulation Using Conducting Polymers for Wireless Electroceuticals and Future Directions

, 2022
Electrochemistry has become a powerful strategy to modulate cellular behavior and biological activity by manipulating electrical signals. Subsequent electrical stimulus-responsive conducting polymers (CPs) have advanced traditional wired electrochemical ...
Chunyan Qin (6650069), Gordon G Wallace (8377320), Jun Chen (4238), Zhilian Yue (6384035)   +3 more
core   +1 more source

A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management

BMC Ophthalmology
Background Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is a rare congenital condition typically associated with mutations in the FOXL2 gene.
Abdulmajeed Al Khathami, Ali Hendi Al Ghamdi   +1 more
doaj   +1 more source