Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Victor Stanescu"'
Autor:
Anne-Lise Delezoide, Françoise Stampf, Joelle Roume, Pierre Maroteaux, Victor Stanescu, Ara Loshkajian
Publikováno v:
American Journal of Medical Genetics. 71:283-288
We report on two sibs with a rare lethal chondrodysplasia born to a non-consanguineous couple. The hallmarks of this affection, also called Blomstrand chondrodysplasia, are short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2ee715737a0b564d79b2ee324387697
https://doi.org/10.1002/(sici)1096-8628(19970822)71:3<283::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19970822)71:3<283::aid-ajmg7>3.0.co
Autor:
Victor Stanescu, Pierre Maroteaux, Jacky Bonaventure, P. Freisinger, L. Cohen-Solal, B. Jacob
Publikováno v:
American Journal of Medical Genetics. 49:439-446
A lethal chondrodysplasia characterized by extreme micromelia was diagnosed by ultrasound examination in two sibs whose nonconsanguineous parents were healthy. Radiographic and histopathologic data indicated that the two foetuses (18 and 21 weeks old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73b8d4c1bdd20833159a920b1aaf5e5
https://doi.org/10.1002/ajmg.1320490418
https://doi.org/10.1002/ajmg.1320490418
Publikováno v:
Osteoarthritis and Cartilage. 1:179-184
Summary Sequencing of cDNA clones has shown that the carboxy terminal domain of the core protein of large proteoglycans (aggrecans) from human cartilage contains an epidermal growth factor-like (EGF-like) domain which is alternatively spliced. In a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78127074a08624d841bede967f965513
https://doi.org/10.1016/s1063-4584(05)80089-5
https://doi.org/10.1016/s1063-4584(05)80089-5
Autor:
Jean-Claude Allain, Jacky Bonaventure, Ritta Stanescu, D. Ginisty, Pierre Maroteaux, Marie-Paule Muriel, Victor Stanescu
Publikováno v:
American Journal of Medical Genetics. 44:738-753
We report on a syndrome of spondylo-epimetaphyseal dysplasia, dentinogenesis imperfecta, and ligamentous hyperextensibility in two sibs born to nonconsanguineous parents. This chondrodysplasia was characterized by severe shortness of stature and an o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea6067f5fa2045fdb8bb119f9f0ab4a
https://doi.org/10.1002/ajmg.1320440607
https://doi.org/10.1002/ajmg.1320440607
Autor:
John T. Gordy, Matthias Mörgelin, John D. Sandy, Victor Stanescu, Raymond Boynton, Carl R. Flannery
Publikováno v:
Scopus-Elsevier
The content of the globular domains G1, G2 and G3 on the core protein of high-density (A1D1) aggrecan isolated from newborn and mature bovine cartilage and from cultures of bovine chondrocytes was examined. Quantitation based on the 220 nm absorbance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::661c5738a53e8952109b574c3a15d0f9
https://doi.org/10.1016/0003-9861(92)90640-i
https://doi.org/10.1016/0003-9861(92)90640-i
Publikováno v:
Spine. 16:203-208
The nucleolytic action of chondroitinase ABC was studied by the use of rabbit lumbar intervertebral discs. The injection of one unit of enzyme results in necrosis of the nucleus pulposus. Radiologic, histologic, and biochemical changes were evident i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9cde0dcd2473a8b6333ec841837dbef
https://doi.org/10.1097/00007632-199102000-00020
https://doi.org/10.1097/00007632-199102000-00020
Autor:
M.P. Muriel, Ritta Stanescu, J. Bonaventure, Victor Stanescu, Pierre Maroteaux, Jean-Louis Guénet
Publikováno v:
Bone. 12:241-248
The mutation fragilitas ossium (fro) was discovered in a random-bred stock of mice during an experiment aimed at detecting recessive lethal mutations after treatment of the postmeiotic germ cells of male mice with tris (1-aziridinyl)phosphine sulphid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c39b2eb1ecf05262d55c8659312d8c1
https://doi.org/10.1016/8756-3282(91)90070-y
https://doi.org/10.1016/8756-3282(91)90070-y
Publikováno v:
Connective Tissue Research. 26:283-293
Recent data from the literature have shown that cDNA clones for the carboxyterminal domain of the core protein of large proteoglycan monomers from human cartilage contain an EGF-like domain, which appears to undergo alternative splicing. In the prese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51cf6e2873eccc2d9c669f907be8fd1
https://doi.org/10.3109/03008209109152445
https://doi.org/10.3109/03008209109152445
Autor:
Victor Stanescu
Publikováno v:
Seminars in Arthritis and Rheumatism. 20:51-64
The small proteoglycans (PGs) of cartilage matrix represent a small fraction of the total mass of PGs, but with a small size they can be present in equivalent moles to the large PGs. Three types of PGs with a wide skeletal and extraskeletal distribut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562d8d130648bc9d6ca0f076dee265de
https://doi.org/10.1016/0049-0172(90)90047-j
https://doi.org/10.1016/0049-0172(90)90047-j
Publikováno v:
American journal of medical genetics. 51(1)
A gel-electrophoretic screening for link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin abnormalities was performed in fetuses, newborn infants, and children with various types of chondrodysplasia. Microdissected freeze-dried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22561cc6210467f230a77bb4e2c68237
https://pubmed.ncbi.nlm.nih.gov/8030664
https://pubmed.ncbi.nlm.nih.gov/8030664