Biomedical subjects

J Furuyama

Publications and source records attributed to J Furuyama.

85 records · Page 5Linked to original sources

PubMed1982

Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells.

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Abnormalities, Multiple↗

PubMed1980

Reciprocal translocation t(5;6)(p13;q27) through three generations: case report of cri du chat syndrome.

A male infant with cri du chat syndrome was found to have a deletion of the short arm of No. 5 chromosome and which was due to maternal reciprocal translocation t(5;6)(p13;q27). His elder sister and his grandfather were also identified as the translocation carriers.

Adult↗

PubMed1978

[Review on the gene, the fine structure of human chromosomes, and the application for prenatal diagnosis of cytogenetic examination (author's transl)].

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Adult↗

PubMed1977

[The general problem in popularization of human cytogenetic examination (author's transl)].

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Humans↗

PubMed1976

Possible intrachromosomal duplication in a case of trisomy 9p.

A 5-year-old boy with multiple minor anomalies and mental retardation was found to have chromosomal condition of 46,XY,inv dup(9p) (pter leads to p13::p21 leads to p24::p13 leads to qter). The clinical features of the propositus fit well with those of trisomy 9p which have been established to be a clinical entity.

Abnormalities, Multiple↗

PubMed1974