Biomedical subjects
M H Shokeir
Publications and source records attributed to M H Shokeir.
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
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Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.
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Hypoplastic left heart. Evidence for possible autosomal recessive inheritance.
Six families with a total of 15 individuals with hypoplastic left heart syndrome in nine separate sibships are presented. In all patients the disorder was inexorably progressive and ultimately fatal with death occurring, with one exception, within the first two weeks of life. The distribution of the patients in the patients in the reported families is suggestive of autosomal recessive inheritance. Consanguinity could be demonstrated in five of the nine reported sibships. The results of a survey of newborns, using truncate ascertainment of families through affected infants, were compatible with the above hypothesis.
Complete failure of eruption of all permanent teeth: an autosomal dominant disorder.
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Letter: Doctors and torture.
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DOPA as anti-metabolite in Huntington's disease.
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The molecular structure of human ceruloplasmin: a proposed model.
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Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.
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The genetics of hereditary angioedema: a hypothesis.
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Is ceruloplasmin a physiological ferroxidase?
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Dentinogenesis imperfecta: severe expression in a probable homozygote.
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Hypoplastic left heart syndrome: an autosomal recessive disorder.
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Biochemical and immunological characterization of ceruloplasmin genetic variants. A proposed model for quantitative control.
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Investigations on the nature of ceruloplasmin deficiency in the newborn.
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Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.
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Primary sex-ratio and size of family.
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