J B Savary
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Explore the profile of J B Savary including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Savary J, Vasseur F, Flactif M, Willatt L, Lefebvre J, Ferguson-Smith M, et al.
Ann Genet
. 1992 Jan;
35(3):134-9.
PMID: 1466561
A derivative Y chromosome was found in a 55-year-old man with Lambert-Eaton paraneoplasic pseudomyastheniform disease. Small testicles, azoospermia were noticed and hormonal level values were as in the Klinefelter syndrome....
12.
Savary J, Vasseur F, Lai J, Daudignon A, DEMINATTI M
Prenat Diagn
. 1991 Dec;
11(12):883-91.
PMID: 1805195
Dynamic banding (RBG-GBG) using pulse 5-bromodeoxyuridine (5-BrdU) incorporation during part of the last S-phase before harvesting has been used in prenatal investigations. This method has already been routinely applied in...
13.
Savary J, Vasseur F, Manouvrier S, Daudignon A, Lemaire O, Thieuleux M, et al.
Hum Genet
. 1991 Nov;
88(1):115-8.
PMID: 1959917
We describe a female new-born with partial trisomy of the long arm of chromosome 16. The chromosome anomaly was the result of an unbalanced segregation of a maternal translocation t(13;16)(p12;q23)....
14.
Savary J, Vasseur F, Vinatier D, Manouvrier S, Thomas P, Deminatti M
Prenat Diagn
. 1991 Nov;
11(11):859-66.
PMID: 1754556
In a well-documented PIBIDS family, two investigations of DNA excision repair showed a severe defect in lymphocytes from the index case (residual repair activities were 10.6-12.1 per cent). The values...
15.
Savary J, Vasseur F, Deminatti M
Ann Genet
. 1991 Jan;
34(2):76-81.
PMID: 1746887
DNA excision-repair of UV induced damages was investigated by unscheduled DNA synthesis and quantitative autoradiography. The method has been routinely used on lymphocytes for postnatal diagnosis of xeroderma pigmentosum and...
16.
Lai J, Fenaux P, Estienne M, Huart J, Savary J, Lepelley P, et al.
Cancer Genet Cytogenet
. 1989 Jan;
37(1):9-17.
PMID: 2917336
We report clinical, immunologic, and cytogenetic characteristics of six patients with a t(1;19)(q23;p13) that was balanced in one case and of the unbalanced type [-19,der(19)t(1;19)(q23;p13)] in the remaining five cases....
17.
Vasseur F, Flactif M, Savary J, Turpin D, Deminatti M
Ann Genet
. 1989 Jan;
32(2):78-81.
PMID: 2569290
In a 1:4 risk family, the usefulness of probes at the D7S23 locus for prenatal diagnosis of cystic fibrosis is discussed by comparison with probes at the MET, D7S8, and...
18.
Weill J, Vasseur F, Savary J, Stuckens C, Deminatti M, Ponte C
Pediatrie
. 1989 Jan;
44(7):559-62.
PMID: 2530495
The case of a 6-year-old male patient suffering from X-chromosome-linked ichthyosis is presented. There was no steroid sulfatase activity in the proband's leucocytes and cutaneous fibroblasts. The activity was decreased...
19.
Formiga L, Poenaru L, Couronne F, Flori E, Eibel J, Deminatti M, et al.
Hum Genet
. 1988 Dec;
80(4):401-4.
PMID: 3198122
Two cases of interstitial deletion of chromosome 15 with similar clinical features are presented. In one case, assay of hexosaminidase A enabled us to confirm that the structural gene is...
20.
Lai J, Fenaux P, Pollet J, Estienne M, Savary J, Huart J, et al.
Cancer Genet Cytogenet
. 1988 Jul;
33(1):99-109.
PMID: 3289733
Childhood acute lymphocytic leukemia (ALL) with partial deletion of the short arm of chromosome 9 (9p-), particularly in the p21-22 region, associated with bulky disease, has been regarded as a...