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Journals and Conferences
Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants. LAMB2 encodes the basement membrane protein laminin beta2, which is incorporated in specific… (More)
Mutations of LAMB2 typically cause autosomal recessive Pierson syndrome, a disorder characterized by congenital nephrotic syndrome, ocular and neurologic abnormalities, but may occasionally be associated with milder or oligosymptomatic disease variants. LAMB2 encodes the basement membrane protein laminin b2, which is incorporated in specific heterotrimeric… (More)
This paper reports a case of Alagille's syndrome, in association with a translocation 46,XY,t(4;14)(q21;21). The possible relationship between this autosomal dominant syndrome and the apparently balanced chromosomal rearrangement is discussed.
In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the… (More)
Human serum contains an ultrafiltrable factor (350 < M.W. < 700) which stimulates sulphation activities of native, or purified somatomedin A of either small or high molecular weight. The factor is heat stable, resists protease hydrolysis but is destroyed by strong acidic hydrolysis. It is not extractible by chloroform. It restores somatomedin activities of… (More)
It has been published about 500 cases of caudal regression (sacral agenesis) of which 12 are undoubtly familial. In most of the non familial cases an aetiology is not demonstrable except the cases related to maternal diabetes and/or insulin treatment. A genetic control of the caudal regression is implicit in the familial transmission. Three sporadic new… (More)
Ten cases of boys without testis are presented. Clinical and anatomical patterns of the disease are analysed. Total absence of testicular tissue is proven by the lack of plasma testosterone response to HCG stimulation and by cautious surgical investigation. Artificial virilization by prolonged androgen administration associated with silastic prothesis… (More)
The more frequent practise of X-ray examination shows that symphalangism may be involved by other synostosis. Maroteaux described in 1972 "multiplex synostosis disease". Seven personal cases (all female) in two families are described with particular problem of deafness and vertebral fusion. Dominant autosomic inheritance.