FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

[1] Beysen D.(2005)Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome Am. J. Hum. Genet. 77 205-218

[2] Raes J.(2004)A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation J. Med. Genet. 41 932-936

[3] Leroy B. P.(2003)Structure, evolution and expression of the FOXL2 transcription unit Cytogenet. Genome Res. 101 206-211

[4] Lucassen A.(2001)The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Nat. Genet. 27 159-166

[5] Yates J. R.(2003)FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation Am. J. Hum. Genet. 72 478-487

[6] Clayton-Smith J.(1999)Nonsense-mediated mRNA decay in health and disease Hum. Mol. Genet. 8 1893-1900

[7] Ilyina H.(2004)Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p. Y215C) Mol. Vis. 10 445-449

[8] Caburet S.(2007)A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction Hum. Genet. 121 107-112

[9] Demarez A.(1983)The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types Am. J. Hum. Genet. 35 1020-1027

[10] Moumne L.(undefined)undefined undefined undefined undefined-undefined

[1] Beysen D.(2005)Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome Am. J. Hum. Genet. 77 205-218

[2] Raes J.(2004)A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation J. Med. Genet. 41 932-936

[3] Leroy B. P.(2003)Structure, evolution and expression of the FOXL2 transcription unit Cytogenet. Genome Res. 101 206-211

[4] Lucassen A.(2001)The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome Nat. Genet. 27 159-166

[5] Yates J. R.(2003)FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation Am. J. Hum. Genet. 72 478-487

[6] Clayton-Smith J.(1999)Nonsense-mediated mRNA decay in health and disease Hum. Mol. Genet. 8 1893-1900

[7] Ilyina H.(2004)Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p. Y215C) Mol. Vis. 10 445-449

[8] Caburet S.(2007)A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction Hum. Genet. 121 107-112

[9] Demarez A.(1983)The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types Am. J. Hum. Genet. 35 1020-1027

[10] Moumne L.(undefined)undefined undefined undefined undefined-undefined