Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 35

1.

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Bouman A, van Haelst M, van Spaendonk R.

Clin Dysmorphol. 2018 Apr;27(2):58-62. doi: 10.1097/MCD.0000000000000216. No abstract available.

PMID:
29481440
2.

Endoscope-assisted harvest of autogenous fascia lata in frontalis suspension surgery: A minimally invasive approach revisited.

Naik A, Patel A, Bothra N, Panda L, Naik MN, Rath S.

Indian J Ophthalmol. 2018 Mar;66(3):440-444. doi: 10.4103/ijo.IJO_819_17.

3.

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

Surve A, Meel R, Pushker N, Bajaj MS.

Indian J Ophthalmol. 2018 Mar;66(3):383-388. doi: 10.4103/ijo.IJO_915_17.

4.

Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.

Yang XW, He WB, Gong F, Li W, Li XR, Zhong CG, Lu GX, Lin G, Du J, Tan YQ.

Mol Genet Genomic Med. 2018 Mar;6(2):261-267. doi: 10.1002/mgg3.366. Epub 2018 Jan 29.

5.

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

Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X.

Cell Physiol Biochem. 2018;45(1):203-211. doi: 10.1159/000486358. Epub 2018 Jan 15.

6.

SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.

Henn A, Weng H, Novak S, Rettenberger G, Gerhardinger A, Rossier E, Zirn B.

Clin Dysmorphol. 2018 Apr;27(2):27-30. doi: 10.1097/MCD.0000000000000213.

PMID:
29315086
7.

Re: Duarte et al.: Lacrimal gland involvement in blepharophimosis-ptosis-epicanthus inversus syndrome (Ophthalmology. 2017;124:399-406).

Freitag SK.

Ophthalmology. 2017 Nov;124(11):e83. doi: 10.1016/j.ophtha.2017.06.014. No abstract available.

PMID:
29055375
8.

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.

Chai P, Li F, Fan J, Jia R, Zhang H, Fan X.

Int J Biol Sci. 2017 Jul 18;13(8):1019-1028. doi: 10.7150/ijbs.19532. eCollection 2017.

9.

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.

Yang L, Li T, Xing Y.

Mol Med Rep. 2017 Oct;16(4):5529-5532. doi: 10.3892/mmr.2017.7226. Epub 2017 Aug 10.

PMID:
28849110
10.

Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.

Takenouchi T, Miwa T, Sakamoto Y, Sakaguchi Y, Uehara T, Takahashi T, Kosaki K.

Am J Med Genet A. 2017 Jun;173(6):1631-1634. doi: 10.1002/ajmg.a.38126. Epub 2017 Apr 13.

PMID:
28407407
11.

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

Duarte AF, Akaishi PM, de Molfetta GA, Chodraui-Filho S, Cintra M, Toscano A, Silva WA Jr, Cruz AA.

Ophthalmology. 2017 Mar;124(3):399-406. doi: 10.1016/j.ophtha.2016.10.028. Epub 2016 Nov 30.

PMID:
27914838
12.

The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.

Elzaiat M, Todeschini AL, Caburet S, Veitia RA.

Clin Genet. 2017 Feb;91(2):173-182. doi: 10.1111/cge.12862. Epub 2016 Sep 29. Review.

PMID:
27604691
13.

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

Kemmanu V, Rathod P, Anaspure H, Yadav NK.

Indian J Ophthalmol. 2016 Jun;64(6):469-71. doi: 10.4103/0301-4738.187681.

14.

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.

Krepelova A, Simandlova M, Vlckova M, Kuthan P, Vincent AL, Liskova P.

Clin Exp Ophthalmol. 2016 Dec;44(9):757-762. doi: 10.1111/ceo.12783. Epub 2016 Jul 1.

PMID:
27283035
15.

Development of Strabismus in Children Initially Diagnosed with Pseudostrabismus.

Sefi-Yurdakul N, Tuğcu B.

Strabismus. 2016 Jun;24(2):70-3. doi: 10.3109/09273972.2016.1170046. Epub 2016 May 24.

PMID:
27220260
16.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.

Zhou L, Wang T, Wang J.

Ophthalmic Plast Reconstr Surg. 2017 May/Jun;33(3S Suppl 1):S82-S84. doi: 10.1097/IOP.0000000000000708.

PMID:
27115209
17.

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.

Xue M, Zheng J, Zhou Q, Hejtmancik JF, Wang Y, Li S.

BMC Med Genet. 2015 Sep 1;16:73. doi: 10.1186/s12881-015-0217-7.

18.

FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice.

Marongiu M, Marcia L, Pelosi E, Lovicu M, Deiana M, Zhang Y, Puddu A, Loi A, Uda M, Forabosco A, Schlessinger D, Crisponi L.

BMC Dev Biol. 2015 Jul 2;15:27. doi: 10.1186/s12861-015-0072-y.

19.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F.

J Endocrinol Invest. 2016 Feb;39(2):227-33. doi: 10.1007/s40618-015-0334-3. Epub 2015 Jun 23.

PMID:
26100530
20.

A Modified One-Stage Early Correction of Blepharophimosis Syndrome Using Tutopatch Slings.

Savino G, Mandarà E, Calandriello L, Dickmann A, Petroni S.

Orbit. 2015;34(4):186-91. doi: 10.3109/01676830.2015.1015146. Epub 2015 Jun 4.

PMID:
26043072

Supplemental Content

Loading ...
Support Center