BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 24777257)

  • 1. Blepharophimosis syndrome with absent tear production.
    Ng JK; Stout AU; Aaby AA; Ng JD
    Ophthalmic Plast Reconstr Surg; 2015; 31(3):e62. PubMed ID: 24777257
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 28849110
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; Cruz AA
    Ophthalmology; 2017 Mar; 124(3):399-406. PubMed ID: 27914838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.
    Chacón-Camacho OF; Salgado-Medina A; Alcaraz-Lares N; López-Moreno D; Barragán-Arévalo T; Nava-Castañeda A; Rodríguez-Uribe G; Lieberman E; Rodríguez-Cabrera L; González-Del Angel A; Borbolla AM; Fernández-Hernández L; Graue-Hernández EO; Zenteno JC
    Gene; 2019 Jul; 706():62-68. PubMed ID: 31048069
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 33(3S Suppl 1):S82-S84. PubMed ID: 27115209
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 13(8):1019-1028. PubMed ID: 28924383
    [No Abstract]   [Full Text] [Related]  

  • 7. [Blepharophimosis-ptosis-epicanthus inversus syndrome].
    Lišková P; Ďuďáková Ľ; Diblík P
    Cesk Slov Oftalmol; 2016; 72(5):187-190. PubMed ID: 28224805
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.
    Zahanova S; Meaney B; Łabieniec B; Verdin H; De Baere E; Nowaczyk MJM
    Clin Dysmorphol; 2012 Jan; 21(1):48-52. PubMed ID: 21934608
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype.
    Kaba M D S; Doğan M D M; Bulan M D K; Demir M D N; Üner M D A; Bulut M D MD; Kocaman M D S
    Cleft Palate Craniofac J; 2016 Nov; 53(6):732-735. PubMed ID: 26506042
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 27283035
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A rare association of blepharophimosis-ptosis-epicanthus inversus case with congenital nasolacrimal duct obstruction.
    Gupta N; Ganesh S; Singla P; Kumar S
    Eur J Ophthalmol; 2021 Mar; 31(2):NP8-NP11. PubMed ID: 31752537
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.
    Shah BM; Dada T; Panda A; Tanwar M; Bhartiya S; Dada R
    Indian J Ophthalmol; 2014 Mar; 62(3):358-60. PubMed ID: 24722273
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
    Yu HC; Geiger EA; Medne L; Zackai EH; Shaikh TH
    Am J Med Genet A; 2014 Apr; 164A(4):950-7. PubMed ID: 24458743
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
    Gulati R; Verdin H; Halanaik D; Bhat BV; De Baere E
    Eur J Med Genet; 2014 Oct; 57(10):576-8. PubMed ID: 25192944
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome].
    Yang X; Li W; Du J; Yuan S; He W; Zhang Q; Zhong C; Lu G; Tan Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Jun; 34(3):342-346. PubMed ID: 28604951
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 27488160
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins.
    Mukherjee B; Alam MS
    Orbit; 2013 Oct; 32(5):318-20. PubMed ID: 23875786
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report.
    Grzechocińska B; Warzecha D; Wypchło M; Ploski R; Wielgoś M
    BMC Med Genet; 2019 Jul; 20(1):132. PubMed ID: 31366388
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I.
    Martinez-Aguayo A; Poggi H; Cattani A; Molina M; Romeo E; Lagos M
    J Pediatr Endocrinol Metab; 2014 Jan; 27(1-2):181-4. PubMed ID: 24030029
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The Genetic and Clinical Features of
    Méjécase C; Nigam C; Moosajee M; Bladen JC
    Genes (Basel); 2021 Mar; 12(3):. PubMed ID: 33806295
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.