Viljoen DL - Search Results

1

Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.

Viljoen DL, Smart R. Viljoen DL, et al. Clin Dysmorphol. 1993 Jul;2(3):274-7. Clin Dysmorphol. 1993. PMID: 8287191

2

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization.

Viljoen DL, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J. Viljoen DL, et al. Clin Genet. 1992 Sep;42(3):105-9. doi: 10.1111/j.1399-0004.1992.tb03219.x. Clin Genet. 1992. PMID: 1395079

3

Deletion of chromosome 13 in Moebius syndrome.

Slee JJ, Smart RD, Viljoen DL. Slee JJ, et al. Among authors: viljoen dl. J Med Genet. 1991 Jun;28(6):413-4. doi: 10.1136/jmg.28.6.413. J Med Genet. 1991. PMID: 1870098 Free PMC article.

4

Partial trisomy 9--further delineation of the phenotype.

Smart RD, Viljoen DL, Fraser B. Smart RD, et al. Among authors: viljoen dl. Am J Med Genet. 1988 Dec;31(4):947-51. doi: 10.1002/ajmg.1320310430. Am J Med Genet. 1988. PMID: 3239584

5

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.

Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE. Vervoort VS, et al. J Med Genet. 2002 Dec;39(12):893-9. doi: 10.1136/jmg.39.12.893. J Med Genet. 2002. PMID: 12471201 Free PMC article.

6

Twenty-year birth prevalence of Down syndrome in Cape Town, South Africa.

Molteno C, Smart R, Viljoen D, Sayed R, Roux A. Molteno C, et al. Paediatr Perinat Epidemiol. 1997 Oct;11(4):428-35. doi: 10.1046/j.1365-3016.1997.d01-25.x. Paediatr Perinat Epidemiol. 1997. PMID: 9373864

7

Porencephaly and transverse limb defects following severe maternal trauma in early pregnancy.

Viljoen DL. Viljoen DL. Clin Dysmorphol. 1995 Jan;4(1):75-8. Clin Dysmorphol. 1995. PMID: 7735509

8

An apparently new mental retardation syndrome in three elderly sisters.

Viljoen DL, Kallis J, Voges S, Marais AS, van Vuuren I. Viljoen DL, et al. Clin Genet. 1991 Jul;40(1):6-11. doi: 10.1111/j.1399-0004.1991.tb03062.x. Clin Genet. 1991. PMID: 1884519

9

A new hypospadias-mental retardation syndrome in three brothers.

Goldblatt J, Wallis C, Viljoen D. Goldblatt J, et al. Am J Dis Child. 1987 Nov;141(11):1168-9. Am J Dis Child. 1987. PMID: 3673966

10

Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?

Winship IM, Viljoen DL, Leary PM, De Moor MM. Winship IM, et al. Among authors: viljoen dl. J Med Genet. 1991 Sep;28(9):619-21. doi: 10.1136/jmg.28.9.619. J Med Genet. 1991. PMID: 1956062 Free PMC article.

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