Ramzi Khalil

Chapter 4 80 17. Roberts IS, Gleadle JM: Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation. Journal of the American Society of Nephrology : JASN 2008, 19(3):450-453. 18. Colvin RB, Chang A: Diagnostic Pathology: Kidney Diseases: Elsevier Health Sciences; 2015. 19. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Human mutation 2000, 15(3):220-227. 20. Bovee JV: Multiple osteochondromas. Orphanet journal of rare diseases 2008, 3:3. 21. Bovee JV, Hogendoorn PC: Multiple osteochondromas. In: World Health Organization classification of tumours : pathology and genetics tumours of soft tissue and bone. edn. Edited by Fletcher CDM, Unni KK, Mertens F. Lyon: IARC Publications; 2002: 360–362. 22. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P: A gene for hereditary multiple exostoses maps to chromosome 19p. Human molecular genetics 1994, 3(5):717-722. 23. Hameetman L, Bovee JV, Taminiau AH, Kroon HM, Hogendoorn PC: Multiple osteochondromas: clinicopathological and genetic spectrum and suggestions for clinical management. Hereditary cancer in clinical practice 2004, 2(4):161-173. 24. Anower EKMF, Matsumoto K, Habuchi H, Morita H, Yokochi T, Shimizu K, Kimata K: Glycosaminoglycans in the blood of hereditary multiple exostoses patients: Half reduction of heparan sulfate to chondroitin sulfate ratio and the possible diagnostic application. Glycobiology 2013, 23(7):865-876. 25. Hecht JT, Hall CR, Snuggs M, Hayes E, Haynes R, Cole WG: Heparan sulfate abnormalities in exostosis growth plates. Bone 2002, 31(1):199-204. 26. Dane MJ, Khairoun M, Lee DH, van den Berg BM, Eskens BJ, Boels MG, van Teeffelen JW, Rops AL, van der Vlag J, van Zonneveld AJ et al: Association of kidney function with changes in the endothelial surface layer. Clinical journal of the American Society of Nephrology : CJASN 2014, 9(4):698-704. 27. Lee DH, Dane MJ, van den Berg BM, Boels MG, van Teeffelen JW, de Mutsert R, den Heijer M, Rosendaal FR, van der Vlag J, van Zonneveld AJ et al: Deeper penetration of erythrocytes into the endothelial glycocalyx is associated with impaired microvascular perfusion. PloS one 2014, 9(5):e96477. 28. Group CW: KDIGO clinical practice guideline for the evaluation and management of chronic kidney disease. Kidney Int Suppl 2013. 29. Bovee JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC: EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. American journal of human genetics 1999, 65(3):689-698. 30. Reijnders CM, Waaijer CJ, Hamilton A, Buddingh EP, Dijkstra SP, Ham J, Bakker E, Szuhai K, Karperien M, Hogendoorn PC et al: No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. Am J Pathol 2010, 177(4):1946-1957. 31. Wiweger MI, Zhao Z, van Merkesteyn RJ, Roehl HH, Hogendoorn PC: HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas. PloS one 2012, 7(1):e29734. 32. Wiweger MI, de Andrea CE, Scheepstra KW, Zhao Z, Hogendoorn PC: Possible effects of EXT2 on mesenchymal differentiation--lessons from the zebrafish. Orphanet J Rare Dis 2014, 9:35. 33. Wiweger MI, Avramut CM, de Andrea CE, Prins FA, Koster AJ, Ravelli RB, Hogendoorn PC: Cartilage ultrastructure in proteoglycan-deficient zebrafish mutants brings to light new candidate genes for human skeletal disorders. J Pathol 2011, 223(4):531-542. 34. Eickhoff MK, Winther SA, Hansen TW, Diaz LJ, Persson F, Rossing P, Frimodt-Moller M: Assessment of the sublingual microcirculation with the GlycoCheck system: Reproducibility and examination conditions. PloS one 2020, 15(12):e0243737.

RkJQdWJsaXNoZXIy MTk4NDMw