[Medical genetics and its goals].
Explore the source record for details and available documents.
Abnormalities, Multiple↗
Biomedical subjects
L Dallaire
Publications and source records attributed to L Dallaire.
[Prenatal diagnosis in medical genetics].
Explore the source record for details and available documents.
Adult↗
Familial holoprosencephaly.
The authors report a family in which several individuals were born with various anomalies of the face and brain. An analysis of the pedigree supports the hypothesis that a single gene defect with variable expressivity and reduced penetrance is responsible for the familial faciocerebral syndrome described which may range from fusion of the eyelids to various combinations of bilateral or median cleft lip and palate, absent nose and single brain ventricle.
Abnormalities, Multiple↗
[Semiquantitative study of amniotic fluid amino acids in relation to length of pregnancy and maternal plasma and urine amino acid levels].
Explore the source record for details and available documents.
Amino Acids↗
Cystinuria: increased prevalence in patients with mental disease.
Explore the source record for details and available documents.
Adult↗
Localisation of the cystic-fibrosis gene.
Explore the source record for details and available documents.
Child, Preschool↗
Autoimmunity and chromosomal aberrations: serological studies in mothrs of childern with Down's syndrome.
Explore the source record for details and available documents.
Adult↗
Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.
Explore the source record for details and available documents.
Abnormalities, Multiple↗
[Recent data and future perspectives in cytogenetics].
Explore the source record for details and available documents.
Age Factors↗
Neonatal jaundice associated with erythrocyte glucose-6-phosphate dehydrogenase deficiency in a non-Mediterranean Caucasian infant with trisomic Down's Syndrome.
Explore the source record for details and available documents.
Chromosomes, Human, 21-22 and Y↗
Thyroid antibodies in relation to infectious hepatitis and Down's syndrome.
Explore the source record for details and available documents.
Adolescent↗
Genetic aspects of tyrosinemia.
Explore the source record for details and available documents.
Amino Acid Metabolism, Inborn Errors↗
Genetic aspects of tyrosinemia in the Chicoutimi region.
Explore the source record for details and available documents.
Amino Acid Metabolism, Inborn Errors↗
Frequency of antibodies to thyroglobulinin relation to gravidity and to Down's syndrome.
Explore the source record for details and available documents.
Adolescent↗
[Thyroid autoimmunity and chromosome aberration].
Explore the source record for details and available documents.
Adolescent↗
The syndrome of retardation with urogenital and skeletal anomalies in siblings.
Explore the source record for details and available documents.
Child↗
Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid.
We report relatively high trehalase activity in the amniotic fluid of two fetuses affected with the congenital nephrotic syndrome of the Finnish type. The results suggest that prenatal detection of this condition can be done on this basis in conjunction with the alpha-fetoprotein and acetylcholinesterase tests in amniotic fluid.
Acetylcholinesterase↗
Prenatal diagnosis of trisomy 10 p in a twin pregnancy.
A twin pregnancy with trisomy 10 p due to a paternal 10;12 translocation is reported. The prenatal diagnosis steps followed in twin pregnancies are reviewed and the concordant features of trisomy 10 p seen in both fetuses confirm previous reports on the clinical features of this chromosomal defect.
Adult↗