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General & Primary Lymphedema References

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. (2002) Research perspectives in inherited lymphatic disease. Ann NY Acad Sci 979:39-51, discussion 76-79
Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN. (2010) GJC2 missense mutations cause human lymphedema. Am J Hum Genet. 86(6):943-8.
Ferrell RE, Finegold DN (2008) Research perspectives in inherited lymphatic disease: An Update. Ann NY Acad Sci 1131:134-139
Ferrell RE, Kimak MA, Lawrence EC, Finegold DN. (2008) Candidate gene analysis in primary lymphedema. Lymphatic Research and Biology 6(2):69-76
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
Finegold DN, Schacht V, Kimak MA, Lawrence EC, Foeldi E, Karlsson JM, Baty CJ, Ferrell RE. (2008) HGF and MET mutations in primary and secondary lymphedema. Lymphatic Research and Biology 6(2):65-68
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
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, Norrm'n C, Mellor R, Tamakoshi T, Finegold DN, Ferrell R, Kerjaschki D, Mortimer P, Yl'-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

Secondary Lymphedema References

Erickson VS, Pearson ML, Ganz PA, Adams J, Kahn KL (2001) Arm edema in breast cancer patients. J Natl Cancer Inst 93:96-111
Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, Karlsson JM, Huang D, Kimak MA, Lawrence EC, Feingold E, Meriney SD, Brufsky AM, Ferrell RE. (2012) Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment. Clin Cancer Res 18(8):2382-90.
Herd-Smith A, Russo A, Muraca MG, Del Turco MR, Cardona G (2001) Prognostic factors for lymphedema after primary treatment of breast carcinoma. Cancer 92:1783-1787
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
Rockson SG (1998) Precipitating factors in lymphedema: myths and realities. Cancer 83:2814-2816
Rockson SG (2008) Secondary lymphedema: Is it a primary disease? Lymphatic Research and Biology 6(2);63-64
Soran A, D'Angelo G, Begovic M, Ardic F, Harlak A, Samuel Wieand H, Vogel VG, Johnson RR (2006) Breast cancer-related lymphedema--what are the significant predictors and how they affect the severity of lymphedema? Breast J 12:536-543
Soran A, Finegold DN, Brufsky A. (2012) Lymphedema prevention and early intervention: a worthy goal. Oncology 26(3):249, 254, 256. Comment on Lymphedema: separating fact from fiction. [Oncology (Williston Park). 2012]

Online references

Lymphedema Association of Australia: How can lymphedema be treated?

Lymphedema Association of Australia: What is lymphedema?

Online Mendelian Inheritance in Man, OMIM (TM) McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).

Lymphedema Family Study
University of Pittsburgh
Department of Human Genetics
A300 Crabtree Hall, GSPH
130 De Soto Street
Pittsburgh PA, 15261

Phone: (412) 624-4659 or (800) 263-2152

(Please be sure to include the word "LYMPHEDEMA" in your subject line)