| 1 | BPES, FOXL2
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| The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
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| Méjécase C, Nigam C, Moosajee M, Bladen JC.
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| Genes (Basel). Mar 4;12(3):364. doi: 10.3390/genes12030364. 2021
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| 2 | BPES, FOXL2
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| Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.
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| Yang XW, He WB, Gong F, Li W, Li XR, Zhong CG, Lu GX, Lin G, Du J, Tan YQ.
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| Mol Genet Genomic Med. Mar;6(2):261-267. doi: 10.1002/mgg3.366. Epub 2018 Jan 29. 2018
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| 3 | BPES, FOXL2
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| FOXL2 mutations and genomic rearrangements in BPES.
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| Beysen D, De Paepe A, De Baere E.
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| Hum Mutat 30(2):158-69.
2009
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| 4 | BPES, FOXL2
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| Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
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| Beysen D, Moumné L, Veitia R, Peters H, Leroy BP, De Paepe A, De Baere E.
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| Hum Mol Genet 17(13):2030-8. Epub 2008 Mar 27.
2008
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| 5 | BPES, DEL10PP, DEL13QD, DEL17Q21, DEL18QP, DEL3PD, DUP10QD, DUP16P133, DUP6PD, FOXL2
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| Identification of copy number variants associated with BPES-like phenotypes.
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| Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA.
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| Hum Genet 124(5):489-98. Epub 2008 Oct 25. 2008
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| 6 | BPES, FOXL2
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| A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
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| Nallathambi J, Moumne L, De Baere E, Beysen D, Usha K, Sundaresan P, Veitia RA.
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| Hum Genet 121(1):107-12. Epub 2006 Nov 7. 2007
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| 7 | ATR, BPES, MDS, RCF2, RPA1, SCKL1, WBS
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| Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling.
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| O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA.
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| Am J Hum Genet 81(1):77-86. Epub 2007 May 17. 2007
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| 8 | FOXL2, BPES, POF3
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| Foxl2 is required for commitment to ovary differentiation.
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| Ottolenghi C, Omari S, Garcia-Ortiz JE, Uda M, Crisponi L, Forabosco A, Pilia G, Schlessinger D.
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| Hum Mol Genet 14(14):2053-62. Epub 2005 Jun 8. 2005
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| 9 | BPES, FOXL2, ATR, DEL3Q2
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| 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.
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| de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.
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| Am J Med Genet A 137(1):81-7. Review. 2005
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| 10 | BPES, FOXL2
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| Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.
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| Vincent AL, Watkins WJ, Sloan BH, Shelling AN.
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| Clin Genet 68(6):520-3. 2005
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| 11 | FOXL2, BPES
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| Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
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| 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, Peer YV, Veitia RA, De Paepe A, De Baere E.
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| Am J Hum Genet 77(2):205-18. Epub 2005 Jun 16 2005
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| 12 | MRPS22, FOXL2, COPB2, ELP4, BPES
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| FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
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| Crisponi L, Uda M, Deiana M, Loi A, Nagaraja R, Chiappe F, Schlessinger D, Cao A, Pilia G.
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| Genomics 83(5):757-64. 2004
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| 13 | FOXL2, BPES
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| A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.
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| Caburet S, Demarez A, Moumne L, Fellous M, De Baere E, Veitia RA.
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| J Med Genet 41(12):932-6. 2004
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| 14 | FOXL2, BPES
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| Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
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| Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, Abu-Eid M, Speeg-Schatz C, Francfort J, Flament J, Veillon F, Perrin-Schmitt F.
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| Clin Genet 63(2):117-120. 2003
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| 15 | BPES, FOXL2, POF3
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| FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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| De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L.
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| Am J Hum Genet 72(2):478-87. 2003
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| 16 | FOXL2, BPES
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| Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
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| Cha SC, Jang YS, Lee JH, Kim HK, Kim SC, Kim S, Baek SH, Jung WS, Kim JR.
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| Clin Genet 64(6):485-90. 2003
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| 17 | BPES, FOXL2, POF3
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| A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.
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| Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N.
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| Ophthalmic Genet 23(1):43-7. 2002
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| 18 | BPES, FOXL2, POF3
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| Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
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| Ramirez-Castro JL, Pineda-Trujillo N, Valencia AV, Muneton CM, Botero O, Trujillo O, Vasquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A.
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| Am J Med Genet 113(1):47-51. 2002
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| 19 | BPES, FOXL2
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| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
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| Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G.
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| Nat Genet 27(2):159-66. 2001
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| 20 | BPES, FOXL2
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| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
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| 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.
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| Hum Mol Genet 10(15):1591-600. 2001
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| 21 | BPES, CMT2B, MBS2, SOX14
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| Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases.
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| Hargrave M, James K, Nield K, Toomes C, Georgas K, Sullivan T, Verzijl HT, Oley CA, Little M, De Jonghe P, Kwon JM, Kremer H, Dixon MJ, Timmerman V, Yamada T, Koopman P.
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| Hum Genet 106(4):432-9. 2000
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| 22 | BPES
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| Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
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| Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ, Geraghty MT.
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| Genomics 65(1):67-9. 2000
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| 23 | BPES, COPB2, RBP1, RBP2
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| 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.
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| De Baere E, et al.
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| Genomics 57(1):70-8. 1999
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| 24 | BPES
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| Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.
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| Toomes C, et al.
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| Genomics 53 : 308-314. 1998
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| 25 | BPES
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| A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
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| 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.
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| Eur J Hum Genet 5(3):171-4. 1997
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| 26 | BPES
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| A gene for premature ovarian failure associated with eyelid malformationmaps to chromosome 3q22-q23.
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| Amati P, et al.
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| Am J Hum Genet 58 : 1089-1092. 1996
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| 27 | BPES
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| Refined genetic and physical mapping of BPES type II.
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| Messiaen L, et al.
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| Eur J Hum Genet 4 : 34-38. 1996
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| 28 | BPES
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| Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.
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| Harrar HS, et al.
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| J Med Genet 32 : 774-777. 1995
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| 29 | SLOS, BPES
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| Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.
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| Warburg M, et al.
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| J Med Genet 32 : 19-24. 1995
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| 30 | BPES
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| Blepharophimosis syndrome is linked to chromosome 3q.
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| Small KW, et al.
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| Hum Mol Genet 4 : 443-448. 1995
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| 31 | BPES
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| Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.
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| Moncla A, et al.
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| J Med Genet 32 : 245-248. 1995
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| 32 | DEL3Q2, BPES
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| Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.
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| Lawson CT, Toomes C, Fryer A, Carette MJ, Taylor GM, Fukushima Y, Dixon MJ.
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| Hum Mol Genet 4(5):963-7. 1995
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| 33 | DEL3Q2, BPES
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| A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.
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| Amati P, Chomel JC, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D.
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| Hum Genet 96(2):213-5. 1995
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| 34 | BPES
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| Blepharophimosis, ptosis, epicanthus inversus syndrome , a new case associated with De novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
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| Boccone L, et al.
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| Am J Med Genet 51 : 258-259. 1994
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| 35 | BPES
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| Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).
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| Wolstenholme J, et al.
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| J Med Genet 31 : 647-648. 1994
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| 36 | BPES
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| Another example favouring the location of BPES at 3q2.
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| De Almeida JCC, et al.
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| J Med Genet 30 : 86. 1993
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| 37 | BPES, DEL3Q2
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| Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23) : a putative gene responsible for microcephaly close to the BPES gene?
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| Ishikiriyama S, et al.
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| Am J Med Genet 47 : 487-489. 1993
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| 38 | BPES, DEL3Q2
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| 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.
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| Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ.
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| Am J Med Genet 47(8):1147-50. Review. 1993
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| 39 | DEL3Q2, BPES
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| Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?
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| Ishikiriyama S, Goto M.
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| Am J Med Genet 47(4):487-9. 1993
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| 40 | BPES, DEL3Q2
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| Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.
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| Fryns JP, Stromme P, van den Berghe H.
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| Clin Genet 44(3):149-51. 1993
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| 41 | BPES, DEL3Q2
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| Boy with a chromosome del (3)(q12q23) and blepharophimosis syndrome.
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| Fujita H, et al.
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| Am J Med Genet 44 : 434-436. 1992
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| 42 | BPES
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| Blepharophymosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)] : possible assignment of the traitto 3q23.
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| Fukushima Y, et al.
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| Am J Med Genet 4O : 485-487. 1991
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| 43 | BPES, FOXL2
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| Further evidence for the location of the BPES gene at 3q2.
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| de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP.
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| J Med Genet 28(10):725. No abstract available. 1991
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| 44 | BPES
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| Blepharophimosis plus ovarian failure : a likely candidate for a contiguous gene syndrome.
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| Smith A, et al.
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| J Med Genet 26 : 434-438. 1989
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| 45 | BPES, DEL3Q2
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| Interstitial deletion of the long arm of chromosome 3 : case report, review, and definition of a phenotype.
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| Alvarado M, et al.
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| Am J Med Genet 27 : 781-786. 1987
|