BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 29339661)

  • 21. Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
    Zhou L; Wang J; Wang T
    BMC Med Genet; 2018 Jul; 19(1):121. PubMed ID: 30029625
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
    Fan JY; Han B; Qiao J; Liu BL; Ji YR; Ge SF; Song HD; Fan XQ
    Mutagenesis; 2011 Mar; 26(2):283-9. PubMed ID: 21068205
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins.
    Kim JH; Bae J
    J Reprod Dev; 2014 Mar; 60(1):14-20. PubMed ID: 24240106
    [TBL] [Abstract][Full Text] [Related]  

  • 27. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.
    Fokstuen S; Antonarakis SE; Blouin JL
    Am J Med Genet A; 2003 Mar; 117A(2):143-6. PubMed ID: 12567411
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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. PubMed ID: 29481440
    [No Abstract]   [Full Text] [Related]  

  • 30. [Analysis of FOXL2 gene mutation and genotype-phenotype correlation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome].
    Cheng H; Wang T; Wang G; Wang J; Shen L; Han M; Yang S; Shi Y; Wang W; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):515-517. PubMed ID: 30098246
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
    Li D; Zeng W; Tao J; Li S; Liang C; Chen X; Mu W; Wang X; Qin Y; Jie Y; Wei W
    Genet Test Mol Biomarkers; 2009 Apr; 13(2):257-68. PubMed ID: 19371227
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
    Hu S; Guo J; Wang B; Wang J; Zhou Z; Zhou G; Ding X; Ma X; Qi Y
    Mol Vis; 2011 Feb; 17():436-42. PubMed ID: 21321671
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. [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]  

  • 38. 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]  

  • 39. 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]  

  • 40. Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With
    Meng T; Zhang W; Zhang R; Li J; Gao Y; Qin Y; Jiao X
    Front Endocrinol (Lausanne); 2022; 13():829153. PubMed ID: 35574016
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.