R D Smart
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Explore the profile of R D Smart including associated specialties, affiliations and a list of published articles.
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18
Citations
51
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Recent Articles
1.
Smart R, Schutte G, Ruppelt T, Greenberg L
S Afr Med J
. 2016 Jun;
106(6 Suppl 1):S29-32.
PMID: 27245520
This article is a brief record of the cytogenetics laboratory from its birth in 1971, under the auspices of the University of Cape Town, throughout its development within the Department...
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Slee J, Smart R, Viljoen D
J Med Genet
. 1991 Jun;
28(6):413-4.
PMID: 1870098
A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of...
5.
Smart R, Retief A, Overhauser J
Prenat Diagn
. 1989 Jul;
9(7):505-13.
PMID: 2771889
Investigation of a couple, who had produced three babies with cri du chat syndrome, showed initially that the mother had an apparent deletion of chromosome 5. It seemed likely that...
6.
Smart R, Viljoen D, Fraser B
Am J Med Genet
. 1988 Dec;
31(4):947-51.
PMID: 3239584
A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with...
7.
Smart R, Ross J, Amann G, Nelson M
Am J Med Genet
. 1986 Jun;
24(2):269-72.
PMID: 3087168
One fetus is described with cyclopia and associated abnormalities as a result of an unbalanced translocation involving chromosomes 7 and 18 [46XX,del 7, rcp(7;18)(q34;21)]. The parents had had a previous...
8.
Goldblatt J, Smart R
Clin Genet
. 1986 May;
29(5):434-8.
PMID: 3742850
We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS...
9.
Smart R, Jordaan H, Ross J, Nelson M, Coetzee E
S Afr Med J
. 1985 Mar;
67(10):368-9.
PMID: 3885421
Our experience in Cape Town shows that ultrasound examination is of great benefit when amniocentesis is performed to obtain amniotic fluid cells for metaphase plates from patients at risk of...
10.
Gardner R, Smart R, Cornell J, Merckel L, Beighton P
Clin Genet
. 1983 Apr;
23(4):311-7.
PMID: 6851223
A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is...