Results 91 to 100 of about 3,111 (197)

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients [PDF]

, 2015
International audienceBackground: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies.
A Caliebe, A Cooke, A Khan, A Rauch, A Verloes, Ali Fawaz, AM Haqq, André Mégarbané, BC Ballif, BWM Bon Van, C Rehder, CB Mankinen, Cecile Mignon-Ravix, DE Rooney, DF Callen, DJ McMullan, DT Miller, E Chouery, E Natt, E Natt, Eliane Chouery, GS Sagoo, J Carayol, JK Inlow, JL Merritt 2nd, Joelle Abou Ghoch, K Buysse, K Scior, K Shimojima, L Rodríguez-Revenga, Laurent Villard, M Azar, M Fujiwara, M Irving, M Poot, M Shoukier, N Roeleveld, Nabiha Salem, Nadine Jalkh, Nancy Choucair, ND Miller, Pierre Cacciagli, R Chitkara, RE Straub, S Edelhoff, SA Yatsenko, Sandra Corbani, Sandra El Sabbagh, T Barøy, T Yamamoto, Tony Ibrahim, V Mardo, Y Qiao, Y-S Fan, Y-T Chang, Z Stark   +55 more
core   +3 more sources

A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

Cellular Physiology and Biochemistry, 2018
Background/Aims: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with ...
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan   +9 more
doaj   +1 more source

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.

PLoS ONE, 2010
The FOXL2 forkhead transcription factor is expressed in ovarian granulosa cells, and mutated FOXL2 causes the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) and predisposes to premature ovarian failure.
Mara Marongiu, Manila Deiana, Alessandra Meloni, Loredana Marcia, Alessandro Puddu, Antonio Cao, David Schlessinger, Laura Crisponi   +7 more
doaj   +1 more source

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings [PDF]

, 2012
We identified a novel 6.33 Mb deletion of 1q21.3q23.3 (hg18; chr1: 153035245–159367106) in two siblings presenting with blepharophimosis, ptosis, microbrachycephaly, severe psychomotor, and intellectual disability.
Ackley, Todd, Barr, Mason, Glover, Thomas W., Hedera, Peter, Innis, Jeffrey W., Lam, Cindy, Purkayastha, Anjali, Quinonez, Shane C.   +7 more
core   +1 more source

Craniofacial abnormalities among patients with Edwards Syndrome

Revista Paulista de Pediatria, 2013
OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a ...
Rafael Fabiano M. Rosa, Rosana Cardoso M. Rosa, Marina Boff Lorenzen, Paulo Ricardo G. Zen, Carla Graziadio, Giorgio Adriano Paskulin   +5 more
doaj   +1 more source

Skeletal Survey of a Filipino Teenage Female with Ohdo syndrome: Case Report [PDF]

Introduction: Ohdo syndrome is a rare congenital disorder occurring in less than 1 in a million individuals, characterized by intellectual disability, craniofacial abnormalities, as well as appendicular abnormalities.
Burgo, Terence, Pollo, Brian Andrich
core   +2 more sources

Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases Síndrome de la blefarotimosis familiar: estudio de dos familias colombianas y dos casos esporádicos

Iatreia, 1989
<p class="MsoNormal"><span style="font-size: 9pt; font-family: Arial">The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus.
José Luis Ramírez Castro
doaj  

Blepharophimosis-ptosis-epicanthus inversus syndrome (type 1)

TNOA Journal of Ophthalmic Science and Research, 2021
Manpreet Singh, Arshiya Saini, Manpreet Kaur, Bhavna Singla   +3 more
doaj   +1 more source

Insuficiência ovárica prematura : análise da associação a outras falências endócrinas [PDF]

, 2011
Trabalho final de mestrado integrado em Medicina àrea científica de Ginecologia, apresentado à Faculdade de Medicina da Universidade de CoimbraA Insuficiência Ovárica Prematura caracteriza-se pela existência de uma disfunção primária do ovário que impede
Nunes, Ana Filipa Coutinho
core  

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome. [PDF]

Sci Prog, 2020
Wang Y, Wu Q, Li L, Liu W, Li C, Fan Y, Cao W, Li N.   +7 more
europepmc   +1 more source