Viljoen D - Search Results

1

Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Viljoen D, Beighton P. Viljoen D, et al. J Med Genet. 1992 Jan;29(1):58-62. doi: 10.1136/jmg.29.1.58. J Med Genet. 1992. PMID: 1552548 Free PMC article.

2

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.

De Paepe A, Viljoen D, Matton M, Beighton P, Lenaerts V, Vossaert K, De Bie S, Voet D, De Laey JJ, Kint A. De Paepe A, et al. Among authors: viljoen d. Am J Med Genet. 1991 Jan;38(1):16-20. doi: 10.1002/ajmg.1320380105. Am J Med Genet. 1991. PMID: 2012127

3

Epiphyseal stippling in acrodysostosis.

Viljoen D, Beighton P. Viljoen D, et al. Am J Med Genet. 1991 Jan;38(1):43-5. doi: 10.1002/ajmg.1320380111. Am J Med Genet. 1991. PMID: 2012131

4

Marfan syndrome: a diagnostic dilemma.

Viljoen D, Beighton P. Viljoen D, et al. Clin Genet. 1990 Jun;37(6):417-22. doi: 10.1111/j.1399-0004.1990.tb03524.x. Clin Genet. 1990. PMID: 2383927

5

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

Viljoen D, Versfeld G, Beighton P. Viljoen D, et al. Clin Genet. 1989 Aug;36(2):122-6. doi: 10.1111/j.1399-0004.1989.tb03174.x. Clin Genet. 1989. PMID: 2766569

6

Osteogenesis imperfecta type III: an ancient mutation in Africa?

Viljoen D, Beighton P. Viljoen D, et al. Am J Med Genet. 1987 Aug;27(4):907-12. doi: 10.1002/ajmg.1320270417. Am J Med Genet. 1987. PMID: 3425600

7

Brachydactylous dwarfs of Mseleni.

Viljoen D, Fredlund V, Ramesar R, Beighton P. Viljoen D, et al. Am J Med Genet. 1993 Jul 1;46(6):636-40. doi: 10.1002/ajmg.1320460607. Am J Med Genet. 1993. PMID: 8362904

8

Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. Nicole S, et al. Among authors: viljoen d. Hum Mol Genet. 1995 Sep;4(9):1633-6. doi: 10.1093/hmg/4.9.1633. Hum Mol Genet. 1995. PMID: 8541852

9

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.

Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, Greenberg J, Beighton P. Gardner JC, et al. Among authors: viljoen d. J Med Genet. 1997 Nov;34(11):904-6. doi: 10.1136/jmg.34.11.904. J Med Genet. 1997. PMID: 9391883 Free PMC article.

10

Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?

Viljoen DL, Versfeld GA, Losken W, Beighton P. Viljoen DL, et al. Am J Med Genet. 1988 Mar;29(3):661-7. doi: 10.1002/ajmg.1320290325. Am J Med Genet. 1988. PMID: 3377009

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