Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

This publication has 40 references indexed in Scilit:

• Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure
  Molecular Human Reproduction, 2004
• Ultraconserved Elements in the Human Genome
  Science, 2004
• Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development
  Human Molecular Genetics, 2004
• Conserved patterns of gene expression in mice and goats in the vicinity of the Polled Intersex Syndrome (PIS) locus
  Chromosome Research, 2004
• Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
  Human Molecular Genetics, 2001
• The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
  Nature Genetics, 2001
• Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
  American Journal of Human Genetics, 2000
• Identification of BPESC1, a Novel Gene Disrupted by a Balanced Chromosomal Translocation, t(3;4)(q23;p15.2), in a Patient with BPES
  Genomics, 2000
• Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)
  Genomics, 2000
• THE BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME - DELINEATION OF 2 TYPES
  1983