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Biomedical subjects

J M Robert

Publications and source records attributed to J M Robert.

At least 19 recordsLinked to original sources
PubMed1992

[Epidemiology of cleft palate and cleft lip inthe Rhône-Alpes/Auvergne/Jura region. Apropos of 903 cases registered 1978-1987].

Data from the Rhône-Alpes/Auvergne birth defects registry have been used to realise an epidemiological analysis of facial clefts (cleft palate and total cleft lip). Between 1978 and 1987, 903 cases have been ascertained giving an incidence of 0.67 per 1,000 for cleft lips with/without cleft palate (CLP) and 0.44 per 1,000 for cleft palates (CP). Several epidemiological characteristics have been studied: CLP are more frequent in males, and CP are more frequent in females. There is no detectable time trend, and birthweights are significantly lower in affected children than in the general population. There are more twins, more maternal epilepsy and more stimulations of ovulation in the studied sample than in the general population. The ranks of birth are higher in CP and CLP than in general population. The incidence of facial clefts in first degree relatives is 50 to 60 times the one in the general population, which is comparable to the literature findings.

Cleft Lip↗
PubMed1979

[Systematic neonatal screening for Duchenne muscular dystrophy].

More than 15% of cases of Duchenne muscular dystrophy (DMD) may be preventable by the neonatal diagnosis of another affected relative. Systematic neonatal screening seems a more efficient way of getting information for genetic counseling. The principle of the test described is the detection of a specific increase of the activity of Creatine-Kinase (CK) in the blood of newborn children with myopathy. Blood may be spotted on paper and posted to a central laboratory. Furthermore this program can be integrated into the systematic screening of phenylketonurie. The specificity and accuracy of the bioluminescent reaction used for the evaluation of CK suggest that this screening reaction is reliable. A systematic neonatal screening program for DMD such as ours in the Rhône-Alpes area (France) will lead to frequent recourse to prenatal diagnosis now possible through sex fetal determination and which would be possible through in utero blood sampling.

Creatine Kinase↗
PubMed1979

[Cheated life].

Explore the source record for details and available documents.

Bacteria↗
PubMed1979

[The status of chromosome mapping in man. II. Results and applications].

In the first part, the authors review the different methods used in gene mapping studies. In the second part, human chromosomes map is studied in details. The scientific usefulness of the map is summed up and the first applications in the field of genetic counselling are mentioned. Finally the forthcoming therapeutic applications are being planned at the time.

Chromosome Mapping↗