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Items: 1 to 20 of 101

1.

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Schlade-Bartusiak K, Brown L, Lomax B, Bruyère H, Gillan T, Hamilton S, McGillivray B, Eydoux P.

Am J Med Genet A. 2012 Sep;158A(9):2322-7. doi: 10.1002/ajmg.a.35516. Epub 2012 Aug 6.

PMID:
22887799
2.

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. doi: 10.1080/13816810701867615.

PMID:
18363172
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 MJ.

Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1.

PMID:
21934608
4.

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. doi: 10.1016/j.fertnstert.2009.08.034. Epub 2009 Dec 6.

PMID:
19969293
5.

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. doi: 10.1016/j.ejmg.2012.07.005. Epub 2012 Aug 3.

PMID:
22906557
6.

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 1;65(1):67-9.

PMID:
10777667
7.

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. doi: 10.3109/13816810.2011.634879. Epub 2011 Dec 15.

PMID:
22171663
8.

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E.

Hum Mutat. 2004 Sep;24(3):189-93.

PMID:
15300845
9.

Genetic aspects of premature ovarian failure: a literature review.

Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP.

Arch Gynecol Obstet. 2011 Mar;283(3):635-43. doi: 10.1007/s00404-010-1815-4. Epub 2010 Dec 29. Review.

PMID:
21188402
10.

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 15;10(15):1591-600.

PMID:
11468277
11.

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. Epub 2006 Jan 4.

PMID:
16394030
12.

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M.

Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Review.

PMID:
16208278
13.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E.

Am J Hum Genet. 2005 Aug;77(2):205-18. Epub 2005 Jun 16.

14.

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. doi: 10.1016/j.ygeno.2014.07.010. Epub 2014 Jul 30.

PMID:
25086333
15.

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, Palotie A, De Paepe A, Messiaen L.

Genomics. 2000 Sep 15;68(3):296-304.

PMID:
10995571
16.

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 9;10:445-9.

17.
18.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Strømme P, Sandboe F.

Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. Review.

PMID:
8689480
20.

A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Cai T, Tagle DA, Xia X, Yu P, He XX, Li LY, Xia JH.

J Med Genet. 1997 Sep;34(9):772-6. Review.

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