214 related articles for article (PubMed ID: 22171663)
21. Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion.
Dean SJ; Holden KR; Dwivedi A; Dupont BR; Lyons MJ
Pediatr Neurol; 2014 Jun; 50(6):636-9. PubMed ID: 24725350
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.
Fukushima Y; Wakui K; Nishida T; Ueoka Y
Am J Med Genet; 1991 Sep; 40(4):485-7. PubMed ID: 1746616
[TBL] [Abstract][Full Text] [Related]
24. Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.
Khan AO; Alam SK; Aldahmesh M; Rajab M; Meyer B
Ophthalmic Genet; 2006 Sep; 27(3):79-82. PubMed ID: 17050282
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation.
Yang Y; Yang C; Zhu Y; Chen H; Zhao R; He X; Tao L; Wang P; Zhou L; Zhao L; Tu M; Dong Z; Chen H; Xie Z
Genomics; 2014 Sep; 104(3):170-6. PubMed ID: 25086333
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
Ramírez-Castro JL; Pineda-Trujillo N; Valencia AV; Muñetón CM; Botero O; Trujillo O; Vásquez G; Mora BE; Durango N; Bedoya G; Ruiz-Linares A
Am J Med Genet; 2002 Nov; 113(1):47-51. PubMed ID: 12400065
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. [Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome].
Qi YH; Li Y; Lin H; Jia HY; Su H; Gu JZ; Huang SZ; Liu YP
Zhonghua Yan Ke Za Zhi; 2006 May; 42(5):409-14. PubMed ID: 16762234
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.
Rea G; McCullough S; McNerlan S; Craig B; Morrison PJ
Eur J Med Genet; 2010; 53(3):162-7. PubMed ID: 20215058
[TBL] [Abstract][Full Text] [Related]
34. Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population.
Chawla B; Bhadange Y; Dada R; Kumar M; Sharma S; Bajaj MS; Pushker N; Chandra M; Ghose S
Invest Ophthalmol Vis Sci; 2013 Apr; 54(4):2985-91. PubMed ID: 23513057
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
Lin WD; Chou IC; Lee NC; Wang CH; Hwu WL; Lin SP; Chao MC; Tsai Y; Tsai FJ
Clin Chem Lab Med; 2010 Apr; 48(4):485-8. PubMed ID: 20184535
[TBL] [Abstract][Full Text] [Related]
37. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.
Lawson CT; Toomes C; Fryer A; Carette MJ; Taylor GM; Fukushima Y; Dixon MJ
Hum Mol Genet; 1995 May; 4(5):963-7. PubMed ID: 7633459
[TBL] [Abstract][Full Text] [Related]
38. Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation.
Karimi-Nejad A; Karimi-Nejad R; Najafi H; Karimi-Nejad MH
Clin Dysmorphol; 1996 Jul; 5(3):259-61. PubMed ID: 8818456
[No Abstract] [Full Text] [Related]
39. [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]
40. Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.
Vincent AL; Watkins WJ; Sloan BH; Shelling AN
Clin Genet; 2005 Dec; 68(6):520-3. PubMed ID: 16283882
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
