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Biomedical subjects

J Frezal

Publications and source records attributed to J Frezal.

At least 55 records · Page 3Linked to original sources
PubMed1979

Inheritance in the etiology of convergent squint.

From a study of 195 unselected cases of idiopathic squint, the authors distinguish three types of squint (simple, accommodative, and with amblyopia). Both sexes are equally affected, the age of onset is later in accommodative squint than in the other two types. The percentage of familial cases (65.4%) is comparable whatever the type of squint involved, the sex of the subjects or the age of onset. The family study and the complex segregation studies show that the hypothesis of dominant autosomal inheritance with incomplete penetrance is the most probable for the three types, but they do not affirm that three distinct entities are involved.

Age Factors↗
PubMed1979

[Genetic counseling in consanguinous marriages].

The authors report their own experience as regard to the genetic counseling for consanguineous marriages. They observe that outpatients still marry and procreate despite the medical advices.

Consanguinity↗
PubMed1976

Mutation theory of carcinogenesis in retinoblastoma.

To test Knudson's hypothesis that two successive mutations are involved in retinoblastoma, we studied the data on 899 cases. Some of the findings appeared to differ from those that might be expected if Knudson's hypothesis were correct. Certain criticisms of Knudson's methodology and model were suggested. Alternative explanations proposed were 1) the role of the sequence in which mutations occur, and 2) the possibility of three mutational events.

Adolescent↗
PubMed1976

[Risk of recurrence of several congenital malformations: anencephaly, spina bifida, cleft palate and cleft lip].

Recurrence risks were estimated for some congenital malformation from a multifactorial model according to the method given by Smith (1971). Risks were estimated for cleft lip with or without cleft palate, cleft palate alone, anencephaly and spina bifida from data on frequency and heritability collected in France. Results are given in tables representing risks for some 180 specific family histories.

Anencephaly↗
PubMed1975

[Prevalence of etinoblastoma in the Midi-Pyrenées area].

The frequency of retinoblastoma was estimated in southwest France (Midi-Pyrénées) during the 1950-1969 period. Twenty-three cases were detected among 507 157 liveborns. After correcting for the probability of ascertainment of patient, the estimated frequency is 1 per 15 849 births. The proportion of unilateral cases is estimated 91 percent after correcting for the higher probability of ascertaining bilateral cases.

Eye Neoplasms↗
PubMed1975

[Frequency of birth defects. Study of a maternity hospital in Paris].

A retrospective study of 20,591 live born babies and still birth was made in order to estimate the incidence of congenital malformations total and by type diagnosed at birth. The total incidence is 1,74 p. 100. The sex ratio, the mean birth rank and parental ages were computed for the different types of malformation and in the control group. The birth weight was low in case of severe malformation. It was found that malformations were associated with significantly raised abortions and still birth rates among previous pregnancies.

Abortion, Spontaneous↗