LYMPHEDEMA REFERENCES

How can lymphedema be treated? Lymphedema Association of Australia

Online Mendelian Inheritance in Man, OMIM (TM) Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). MIM Numbers: 152900, 152950, 153000, 153100, 153200, 153300, 153400, 214900, 247410, 247440, 25510.

What is lymphedema? Lymphedema Association of Australia

Dale RF (1985) The inheritance of primary lymphedema. Journal of Medical Genetics 22:274-278

Esterly JR (1965) Congenital hereditary lymphedema. Journal of Medical Genetics 2:93-98

Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, Rosbotham J, Child A, Sarfarazi M. (1999) Mapping of primary congenital lymphedema to the 5q35.3 region. American Journal of Human Genetics 64(2):547-55

Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. (2000) Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. American Journal of Human Genetics 67(6):1382-8

Ferrell RE. Research perspectives in inherited lymphatic disease. (2002) Ann NY Acad Sci 979:39-51, discussion 76-9

Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, Finegold DN. (1998) Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Human Molecular Genetics 7(13):2073-8

Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE. (2001) Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Human Molecular Genetics 10(11):1185-9

Greenlee R, Hoyme H, Witte M, Crowe P, Witte C (1993) Developmental disorders of the lymphatic system. Lymphology 26:156-168

Iljin K, Karkkainen MJ, Lawrence EC, Kimak MA, Uutela M, Taipale J, Pajusola K, Alhonen L, Halmekyto M, Finegold DN, Ferrell RE, Alitalo K. (2001) VEGFR3 gene structure, regulatory region, and sequence polymorphisms. FASEB J 15(6):1028-36

Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M (2000) Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. American Journal of Humun Genetics 67:295-301

Jackson FI, Bowen P, Lentle BC (1978) Scintilymphangiography with 99mTc-antimony sulfide colloid in hereditary lymphedema. Clinical Nuclear Medicine 3:296-298

Kaipainen A, Korhonen J, Mustonen T, van Hinsbergh VW, Fang GH, Dumont D, Breitman M, Alitalo K (1995) Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development. Proceedings of the National Academy of Sciences USA 92(8):3566-3570

Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN (2000) Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nature Genetics 25:153-9

Karkkainen MJ, Jussila L, Ferrell RE, Finegold DN, Alitalo K. (2001) Molecular regulation of lymphangiogenesis and targets for tissue oedema. Trends Mol Med 7(1):18-22

Karkkainen MJ, Saaristo A, Jussila L, Karila KA, Lawrence EC, Pajusola K, Bueler H, Eichmann A, Kauppinen R, Kettunen MI, Yla-Herttuala S, Finegold DN, Ferrell RE, Alitalo K. (2001) A model for gene therapy of human hereditary lymphedema. Proc Natl Acad Sci USA98(22):12677-82

Kinmonth JB, Taylor GW, Tracy GD, Marsh JD (1957) Primary lymphedema: clinical and lymphangiographic studies of a series of 107 patients in which the lower limbs were affected. British Journal of Surgery 45(189):1-10

Korpelainen EI & Alitalo K (1998) Signaling angiogenesis and lymphangiogenesis. Current Opinions in Cell Biology 10:159-164

Kukk E, Lymboussaki A, Taira S, Kaipainen A, Jeltsch M, Joukov V, Alitalo K. (1996) VEGF-C receptor binding and pattern of expression with VEGFR-3 suggests a role in lymphatic vascular development. Development 122:3829-3837

Levinson KL, Feingold E, Ferrell RE, Glover TW, Traboulsi EI, Finegold DN. (2003) Age of onset in hereditary lymphedema. J Pediatr 142(6):704-8

Lewis JM, Wald ER (1984) Lymphedema praecox. Journal of Pediatrics 104(5):641-648

LiCalzi L, Kerstein MD (1977) Lymphedema: an overview. Connecticut Medicine 41(8):485-494

Miller RL, Feingold E, Lorenzo K, Levinson KL, Dunlap JW, Kimak MA, Lawrence EC, Soran A, Vogel VG, Esman JH, Ferrell RE, Finegold DN. (2003) FOXC2 variation in breast cancer survivors with secondary lymphedema. Am J Hum Genet 73(5):524 supplement

Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child AH, Murday VA, Mortimer PS, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans AL, Nunan TO, Stratton MR, Jeffery S (1999) A gene for lymphedema-distichiasis maps to 16q24.3. American Journal of Human Genetics 65(2):427-32

Milroy WF (1892) An undescribed variety of hereditary oedema. NY Journal of Medicine 56:505-508

Milroy WF (1928) Chronic hereditary edema: Milroy's disease. Journal of the American Medical Association 91:1172-1175

Neufeld G, Cohen T, Gengrinovitch S, Poltorak Z (1999) Vascular endothelial growth factor (VEGF) and its receptors. FASEB Journal 13(1):9-22

Petrova TV, Makinen T, Alitalo K (1999) Signaling via vascular endothelial growth factor receptors. Experimental Cell Research 253(1):117-130

Petrova TV, Karpanen T, Norrmén C, Mellor R, Tamakoshi T, Finegold DN, Ferrell R, Kerjaschki D, Mortimer P, Ylä-Herttuala S, Miura N, Alitalo K. (2004) Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis. Nature Medicine 10: 974-981

Szuba A, Rockson SG (1998) Lymphedema: classification, diagnosis and therapy (Review). Vascular Medicine 3:145-56

Taipale J, Makinen T, Arighi E, Kukk E, Karkkainen M, Alitalo K (1999) Vascular endothelial growth factor receptor-3. Current Topics in Microbiology and Immunology 237:85-96

Traboulsi EI, Al-Khayer K, Matsumoto M, Kimak MA, Crowe S, Wilson SE, Finegold DN, Ferrell RE, Meisler DM. (2002) Lymphedema-distichiasis syndrome and FOXC2 gene mutation. Am J Opthalmol 134(4)592-6

Weissleder H & Schuchhardt C (Eds) (1997) Lymphedema: diagnosis and therapy (2nd ed) Bonn: Kagerer Kommunikation

Wheeler ES, Chan V, Wassman R, Rimoin DL, Lesavoy MA (1981) Familial lymphedema praecox: Meige's disease. Plastic and Reconstructive Surgery 67:362-364

Wilting J, Neeff H, Christ B. (1999) Embryonic lymphangiogenesis. Cell Tissue Research 297:1-11

Witte MH, Erickson R, Bernas M, Andrade M, Reiser F, Conlon W, Hoyme HE, Witte CL (1998) Phenotypic and Genotypic Heterogeneity in Familial Milroy Lymphedema. Lymphology 31:145-155

Van der Putte SCJ (1975) The development of the lymphatic system in man. Springer-Verlag, New York

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