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pro vyhledávání: '"Jun Kishibayashi"'
Congenital glaucoma and Silver‐Russell phenotype associated with partial trisomy 7q and monosomy 15q
Autor:
Osamu Shimokawa, Norio Niikawa, Jun Kishibayashi, Naomichi Matsumoto, Naoki Harada, Rumiko Kato
Publikováno v:
American Journal of Medical Genetics. 104:319-322
We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3). He had bilateral congenital glaucoma (buphthalmos), as well as typical manifestations of part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d1a1d309da9223c23cd525defd82d1d
https://doi.org/10.1002/1096-8628(2001)104:4<319::aid-ajmg10090>3.0.co
https://doi.org/10.1002/1096-8628(2001)104:4<319::aid-ajmg10090>3.0.co
Publikováno v:
Internal Medicine. 32:825-831
Clinical, neurophysiological and neuropathological investigations were performed on five patients from two families with autosomal dominant distal amyotrophy followed by spastic paraplegia and with a positive history in two generations of these two f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e5b8800aefd27d572f4ef3f4cfaf084
https://doi.org/10.2169/internalmedicine.32.825
https://doi.org/10.2169/internalmedicine.32.825
Publikováno v:
Acta neuropathologica. 89(1)
A 42-year-old woman with distal myopathy with rimmed vacuoles had intracytoplasmic inclusion bodies similar to those described in reducing body myopathy. Since these inclusions were found in fibers with high acid phosphatase activity and occasional r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b55b15540d2d65a1e25f6a3e539d04e0
https://pubmed.ncbi.nlm.nih.gov/7709723
https://pubmed.ncbi.nlm.nih.gov/7709723