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Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
- N. Niikawa, N. Matsuura, Y. Fukushima, T. Ohsawa, T. Kajii
- The Journal of pediatrics
- 1 October 1981
A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation,… Expand
Heterozygous TGFBR2 mutations in Marfan syndrome
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at… Expand
Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
- S. Matsuura, Y. Matsumoto, +14 authors T. Kajii
- Biology, Medicine
- American journal of medical genetics. Part A
- 15 February 2006
Cancer‐prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation,… Expand
Androgenetic origin of hydatidiform mole
CLASSIC hydatidiform mole is the product of an abnormal pregnancy with grossly swollen chorionic villi, but without an embryo, cord or amniotic membrane. Histologically, the villi are characterised… Expand
Anatomic and chromosomal anomalies in 639 spontaneous abortuses
- T. Kajii, A. Ferrier, N. Niikawa, H. Takahara, K. Ohama, S. Avirachan
- Biology, Medicine
- Human Genetics
SummaryA total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture. This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertained… Expand
Fibroblast-specific common fragile sites induced by aphidicolin
SummaryThe distribution and frequency of aphidicolin-induced common fragile sites were studied in chromosomes of cultured skin fibroblasts and PHA-stimulated lymphocytes from five normal individuals;… Expand
Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical consideration.
A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.
Hydatidiform mole: two entities
In a continuous series of 811 spontaneous and 1,097 induced abortions, 75 specimens with gross swellings of the chorionic villi were found. On gross morphology, histopatholgy, and karyotype these… Expand