146 related articles for article (PubMed ID: 21204216)
1. Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
Willemsen MH; de Leeuw N; Mercer C; Eisenhauer H; Morris J; Collinson MN; Barber JC; Lam ST; Lo IF; Rensen H; Ferwerda A; Hamel BC; Kleefstra T
Am J Med Genet A; 2011 Jan; 155A(1):106-12. PubMed ID: 21204216
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.
de Ru MH; Gille JJ; Nieuwint AW; Bijlsma JB; van der Blij JF; van Hagen JM
Am J Med Genet A; 2005 Aug; 137(1):81-7. PubMed ID: 16015581
[TBL] [Abstract][Full Text] [Related]
5. De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.
Lim BC; Park WY; Seo EJ; Kim KJ; Hwang YS; Chae JH
J Child Neurol; 2011 May; 26(5):615-8. PubMed ID: 21471554
[TBL] [Abstract][Full Text] [Related]
6. Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.
Alao MJ; Lalèyè A; Lalya F; Hans Ch; Abramovicz M; Morice-Picard F; Arveiler B; Lacombe D; Rooryck C
Eur J Med Genet; 2012 Nov; 55(11):630-4. PubMed ID: 22906557
[TBL] [Abstract][Full Text] [Related]
7. Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").
Khan AO; Nagl S; Bergmann C; Bolz HJ
J Pediatr Ophthalmol Strabismus; 2014 Jul; 51 Online():e51-4. PubMed ID: 25032695
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [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]
10. [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]
11. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
Fryns JP; Strømme P; van den Berghe H
Clin Genet; 1993 Sep; 44(3):149-51. PubMed ID: 8275574
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
González-González C; García-Hoyos M; Hernaez Calzón R; Arroyo Díaz C; González Fanego C; Lorda Sánchez I; Sánchez-Escribano F
Ophthalmic Genet; 2012 Jun; 33(2):107-10. PubMed ID: 22171663
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
Jewett T; Rao PN; Weaver RG; Stewart W; Thomas IT; Pettenati MJ
Am J Med Genet; 1993 Dec; 47(8):1147-50. PubMed ID: 8291545
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
