Zobrazeno 1 - 10
of 115
pro vyhledávání: '"M M, Deminatti"'
Autor:
M M, Deminatti, M, Ribet, B, Gosselin, F, Bauters, E, Mencier, J B, Savary, J L, Lai, F, Vasseur, P, Morel, S, Bisiau-Leconte
Publikováno v:
Annales de genetique. 37(2)
A familial lympho-epithelial thymoma with constitutional chromosomal translocation t (14;20) (q24;p13) is presented: the thymoma and its particular translocation are present in the mother and the two sons of her offspring. The small number of cases d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::11adbf9eff97e38870df4bfa87ce95b0
https://pubmed.ncbi.nlm.nih.gov/7985981
https://pubmed.ncbi.nlm.nih.gov/7985981
Publikováno v:
Annales de genetique. 35(1)
Pulse 5-bromodeoxyuridine (5-BrdU) incorporation during the last S-phase is known to produce R- or G-banded chromosomes after photolysis-plus-Giemsa (FPG) staining. The authors applied an immunological staining with monoclonal anti-BrdU antibody inst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ceaef58da365bcb732a15d5d64d99f6
https://pubmed.ncbi.nlm.nih.gov/1610116
https://pubmed.ncbi.nlm.nih.gov/1610116
Autor:
J B, Savary, F, Vasseur, M, Flactif, L, Willatt, J, Lefebvre, M A, Ferguson-Smith, M M, Deminatti
Publikováno v:
Annales de genetique. 35(3)
A derivative Y chromosome was found in a 55-year-old man with Lambert-Eaton paraneoplasic pseudomyastheniform disease. Small testicles, azoospermia were noticed and hormonal level values were as in the Klinefelter syndrome. A 45,X/46,XYp+ mosaïcism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7d898bcb256eef64612357258819ab5d
https://pubmed.ncbi.nlm.nih.gov/1466561
https://pubmed.ncbi.nlm.nih.gov/1466561
Publikováno v:
Annales de genetique. 34(2)
DNA excision-repair of UV induced damages was investigated by unscheduled DNA synthesis and quantitative autoradiography. The method has been routinely used on lymphocytes for postnatal diagnosis of xeroderma pigmentosum and PIBIDS syndrome. Ten XP-f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fcad29eeccf520dd6359f0eb32c1d953
https://pubmed.ncbi.nlm.nih.gov/1746887
https://pubmed.ncbi.nlm.nih.gov/1746887
Publikováno v:
Annales de genetique. 31(2)
Prenatal diagnosis of cystic fibrosis was performed with linked DNA probes in a couple with a 1:4 risk. The limits and the future of molecular prenatal diagnosis are discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::59ad0988d63a36a89d122a00f77b7335
https://pubmed.ncbi.nlm.nih.gov/2840846
https://pubmed.ncbi.nlm.nih.gov/2840846
Publikováno v:
Comptes rendus des seances de l'Academie des sciences. Serie III, Sciences de la vie. 294(4)
Unfixed, isolated metaphase chromosomes were used as template in an in vitro RNA synthesis assay. In these conditions, no RNA synthesis was observed by autoradiography. Transcription was effective after treatment with methanol-acetic acid, HCl 0,2 N,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aab27e463159d29d2b06bed168ad2b5c
https://pubmed.ncbi.nlm.nih.gov/6805864
https://pubmed.ncbi.nlm.nih.gov/6805864
Autor:
S, Manouvrier-Hanu, D, Turck, F, Gottrand, J B, Savary, G A, Loeuille, M M, Deminatti, J P, Farriaux
Publikováno v:
Annales de genetique. 31(4)
We report on a girl with ring chromosome 9, and review the 9 other cases of the literature. The main signs of this de novo chromosomal anomaly are: severe microcephaly, growth and psychomotor retardations, and heart malformations. Infectious complica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ebd78bdd05be7977a2bc43b70002d08
https://pubmed.ncbi.nlm.nih.gov/3265311
https://pubmed.ncbi.nlm.nih.gov/3265311
Publikováno v:
Annales de genetique. 31(2)
Linked DNA probes have been used in three families presenting an affected child with cystic fibrosis. The strategy used for the determination of haplotypes associated with parental normal and mutated genes is presented as well as its application to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49823e28591a332abdebc36bbab6d2dd
https://pubmed.ncbi.nlm.nih.gov/2840848
https://pubmed.ncbi.nlm.nih.gov/2840848
Publikováno v:
Annales de genetique. 32(2)
In a 1:4 risk family, the usefulness of probes at the D7S23 locus for prenatal diagnosis of cystic fibrosis is discussed by comparison with probes at the MET, D7S8, and D7S18 loci that did not allow accuracy in this family.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b480f887ab566d26087841b0d3a55f31
https://pubmed.ncbi.nlm.nih.gov/2569290
https://pubmed.ncbi.nlm.nih.gov/2569290
Publikováno v:
Pediatrie. 44(7)
The case of a 6-year-old male patient suffering from X-chromosome-linked ichthyosis is presented. There was no steroid sulfatase activity in the proband's leucocytes and cutaneous fibroblasts. The activity was decreased in the proband's mother's leuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::78a814f8751e2ee57878f1d2c3d7cbe5
https://pubmed.ncbi.nlm.nih.gov/2530495
https://pubmed.ncbi.nlm.nih.gov/2530495