BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 21055199)

  • 1. [Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome].
    Zhou ZM; Liang DS; Quan Y; Xue JJ; Li HY; Xia XB; Wu LQ
    Zhonghua Yan Ke Za Zhi; 2010 Jun; 46(6):532-6. PubMed ID: 21055199
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.
    Corrêa FJ; Tavares AB; Pereira RW; Abrão MS
    Fertil Steril; 2010 Feb; 93(3):1006.e3-6. PubMed ID: 19969293
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients.
    Fan J; Zhou Y; Huang X; Zhang L; Yao Y; Song X; Chen J; Hu J; Ge S; Song H; Fan X
    Hum Reprod; 2012 Nov; 27(11):3347-57. PubMed ID: 22926839
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
    De Baere E; Dixon MJ; Small KW; Jabs EW; Leroy BP; Devriendt K; Gillerot Y; Mortier G; Meire F; Van Maldergem L; Courtens W; Hjalgrim H; Huang S; Liebaers I; Van Regemorter N; Touraine P; Praphanphoj V; Verloes A; Udar N; Yellore V; Chalukya M; Yelchits S; De Paepe A; Kuttenn F; Fellous M; Veitia R; Messiaen L
    Hum Mol Genet; 2001 Jul; 10(15):1591-600. PubMed ID: 11468277
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
    Tang S; Wang X; Lin L; Sun Y; Wang Y; Yu H
    Mutagenesis; 2006 Jan; 21(1):35-9. PubMed ID: 16394030
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 16():73. PubMed ID: 26323275
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.
    Xu Y; Lei H; Dong H; Zhang L; Qin Q; Gao J; Zou Y; Yan X
    Mutagenesis; 2009 Sep; 24(5):447-53. PubMed ID: 19592504
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family.
    Chouchene I; Derouiche K; Chaabouni A; Cherif L; Amouri A; Largueche L; Abdelhak S; El Matri L
    Genet Test Mol Biomarkers; 2010 Feb; 14(1):145-8. PubMed ID: 19929410
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
    Cha SC; Jang YS; Lee JH; Kim HK; Kim SC; Kim S; Baek SH; Jung WS; Kim JR
    Clin Genet; 2003 Dec; 64(6):485-90. PubMed ID: 14986827
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients.
    Kaur I; Hussain A; Naik MN; Murthy R; Honavar SG
    Br J Ophthalmol; 2011 Jun; 95(6):881-6. PubMed ID: 21325395
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome.
    Raile K; Stobbe H; Tröbs RB; Kiess W; Pfäffle R
    Eur J Endocrinol; 2005 Sep; 153(3):353-8. PubMed ID: 16131596
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.
    Li WX; Wang XK; Sun Y; Wang YL; Lin LX; Tang SJ
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):372-5. PubMed ID: 16086270
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
    Tzschach A; Kelbova C; Weidensee S; Peters H; Ropers HH; Ullmann R; Erdogan F; Jurkatis J; Menzel C; Kalscheuer V; Demuth S
    Ophthalmic Genet; 2008 Mar; 29(1):37-40. PubMed ID: 18363172
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.