Results 121 to 130 of about 2,495 (204)

Case Report: From imaging to genetics: a case of congenital restrictive strabismus with SEOM expands the 22q11.2 duplication syndrome phenotype. [PDF]

Front Med (Lausanne)
Wei X, Gao R, Xie R.
europepmc   +1 more source

Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome. [PDF]

Front Genet
Zhao M, Meng X, Wang J, Wang T.
europepmc   +1 more source

Functional analysis of 6 variations in <i>FOXL2</i>. [PDF]

SAGE Open Med
Wang Y, Wu Q, Zhou Y, Liu W, Cao W, Fan Y, Li N.   +6 more
europepmc   +1 more source

Frontalis sling surgery - pediatric versus adult population: characteristics and outcomes. [PDF]

BMC Ophthalmol
Arnon R, Rosner M, Priel A, Sagiv O, Landau-Prat D, Rock O, Armanik S, Shalamaev Y, Arazi M, Zloto O.   +9 more
europepmc   +1 more source

Mutation analysis of the <i>FOXL2</i> and <i>BMP15</i> genes in patients with premature ovarian insufficiency. [PDF]

Turk J Obstet Gynecol
Mutlu MB, Topçu V, Çetinkaya ŞE, Üstün Y, Bakır A, Atabekoğlu CS, Ruhi HI, Karabulut HG.   +7 more
europepmc   +1 more source

A rare encounter: Navigating airway challenges in Van den Ende-Gupta syndrome. [PDF]

J Anaesthesiol Clin Pharmacol
Jha S, Ayub A, Ashwin M, Vignesh V.
europepmc   +1 more source

Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation. [PDF]

Hum Genomics
Shen B, Chen X, Zhu X, Chen Z, Fang Y, Dai Q, Li X, Xie Q, Wu W, Wang M.   +9 more
europepmc   +1 more source

Can single stage surgery in Blepharophimosis syndrome be practiced universally?

Indian Journal of Ophthalmology, 2013
Ruchi Goel, Amit Goel
doaj   +1 more source

A Retrospective Analysis of the Efficacy of Silicone Sling in the Management of Severe Congenital Ptosis. [PDF]

Cureus
Thacker P, Agarwal R, Rastogi A, Joon A, Agarwal H, Aggarwal P.   +5 more
europepmc   +1 more source

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

Plastic and Reconstructive Surgery, Global Open, 2018
Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD   +7 more
doaj   +1 more source