Concepedia

Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

Rachel E. Bell, Glen Brice, Anne H. Child, V Murday, Sahar Mansour, C. Sandy, J R O Collin, Angela F. Brady, David F. Callen, K G Burnand,

Human Genetics · 2001 · 133 citations · 22 references

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References

22

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 977 citations

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Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

Marika J. Karkkainen, Robert E. Ferrell, Elizabeth Lawrence et al. · Nature Genetics · 2000 · 654 citations

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Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome

Jianming Fang, Susan L. Dagenais, Robert P. Erickson et al. · The American Journal of Human Genetics · 2000 · 613 citations · Full text

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward et al. · Nature Genetics · 1998 · 472 citations

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