1.
Acta Paedopsychiatr
; 49(3-4): 101-8, 1983 Jul.
Article
in French
| MEDLINE
| ID: mdl-6193679
2.
Hum Genet
; 33(1): 73-6, 1976 Jul 07.
Article
in English
| MEDLINE
| ID: mdl-939560
ABSTRACT
A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote for a complex translocation involving chromosomes 9, 21 and 22. The phenotypically normal sister of the proposition is also carrier of the same complex translocation.
Subject(s)
Chromosome Aberrations , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, 6-12 and X , Translocation, Genetic , Trisomy , Child , Humans , Male , Pedigree , Phenotype
3.
Minerva Pediatr
; 27(19): 1095-104, 1975 May 26.
Article
in Italian
| MEDLINE
| ID: mdl-1134467
Subject(s)
Brain Diseases/genetics , Gangliosides/metabolism , Intellectual Disability/genetics , Lipid Metabolism, Inborn Errors/genetics , Myoclonus/genetics , Basal Ganglia/metabolism , Brain/metabolism , Brain/pathology , Child, Preschool , Cholesterol/metabolism , Female , Glycolipids/metabolism , Humans , Infant , Neuraminic Acids/metabolism , Phospholipids/metabolism
4.
Acta Paedopsychiatr
; 35(11): 336-44, 1968 Dec.
Article
in English
| MEDLINE
| ID: mdl-4893140
Subject(s)
Psychology, Adolescent , Suicide , Adolescent , Child , Ego , Female , Humans , Male , Object Attachment , Psychology, Child , Psychosexual Development , Time Perception
5.
Minerva Med
; 59(85): 4499-506, 1968 Oct 24.
Article
in Italian
| MEDLINE
| ID: mdl-5697514
Subject(s)
Curriculum , Education, Medical , Schools, Medical , Italy , Organization and Administration
6.
Panminerva Med
; 10(10): 396-400, 1968 Oct.
Article
in English
| MEDLINE
| ID: mdl-5706599
Subject(s)
Phenylketonurias/diagnosis , Humans , Infant, Newborn , Phenylalanine/blood , Phenylpyruvic Acids/urine
7.
Minerva Pediatr
; 20(7): 353-7, 1968 Feb 18.
Article
in Italian
| MEDLINE
| ID: mdl-5744930
8.
Riv Clin Pediatr
; 81(1): 45-51, 1968.
Article
in Italian
| MEDLINE
| ID: mdl-5742975