174 related articles for article (PubMed ID: 7633459)
1. 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]
2. Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.
Toomes C; Dixon MJ
Genomics; 1998 Nov; 53(3):308-14. PubMed ID: 9799597
[TBL] [Abstract][Full Text] [Related]
3. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
Amati P; Chomel JC; Nivelon-Chevalier A; Gilgenkrantz S; Kitzis A; Kaplan J; Bonneau D
Hum Genet; 1995 Aug; 96(2):213-5. PubMed ID: 7635472
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
Boccone L; Meloni A; Falchi AM; Usai V; Cao A
Am J Med Genet; 1994 Jul; 51(3):258-9. PubMed ID: 8074155
[TBL] [Abstract][Full Text] [Related]
7. Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Costa T; Pashby R; Huggins M; Teshima IE
J Pediatr Ophthalmol Strabismus; 1998; 35(5):271-6. PubMed ID: 9782438
[TBL] [Abstract][Full Text] [Related]
8. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Strømme P; Sandboe F
Acta Ophthalmol Scand; 1996 Feb; 74(1):45-7. PubMed ID: 8689480
[TBL] [Abstract][Full Text] [Related]
9. A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
Piemontese MR; Memeo E; Carella M; Amati P; Chomel JC; Bonneau D; Pilia G; Cao A; Drabkin H; Gemmill R; Rommens J; Zelante L; Gasparini P; Bisceglia L
Eur J Hum Genet; 1997; 5(3):171-4. PubMed ID: 9272742
[TBL] [Abstract][Full Text] [Related]
10. Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.
De Baere E; Van Roy N; Speleman F; Fukushima Y; De Paepe A; Messiaen L
Genomics; 1999 Apr; 57(1):70-8. PubMed ID: 10191085
[TBL] [Abstract][Full Text] [Related]
11. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly.
Ishikiriyama S; Goto M
Am J Med Genet; 1994 Aug; 52(2):245. PubMed ID: 7802022
[No Abstract] [Full Text] [Related]
12. Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
Kumar A; Babu M; Raghunath A; Venkatesh CP
Mol Vis; 2004 Jul; 10():445-9. PubMed ID: 15257268
[TBL] [Abstract][Full Text] [Related]
13. Blepharophimosis-ptosis-epicanthus inversus syndrome.
Graziadio C; de Moraes FN; Rosa RF; Zen PR; Travi GM; Waldman C; Medina CT; De Baere E; Paskulin GA
Pediatr Int; 2011 Jun; 53(3):390-2. PubMed ID: 21696507
[No 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. 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]
16. Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree.
Chaudhry TA; Khalid MU; Saleem T; Ahmad K
J Coll Physicians Surg Pak; 2010 Apr; 20(4):285-6. PubMed ID: 20392411
[TBL] [Abstract][Full Text] [Related]
17. Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
Wolstenholme J; Brown J; Masters KG; Wright C; English CJ
J Med Genet; 1994 Aug; 31(8):647-8. PubMed ID: 7815425
[TBL] [Abstract][Full Text] [Related]
18. Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Praphanphoj V; Goodman BK; Thomas GH; Niel KM; Toomes C; Dixon MJ; Geraghty MT
Genomics; 2000 Apr; 65(1):67-9. PubMed ID: 10777667
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]