Zobrazeno 1 - 10
of 35
pro vyhledávání: '"J B, Savary"'
Publikováno v:
Prenatal Diagnosis. 16:125-130
We report two fetuses with typical anomalies of Roberts syndrome. Prenatal diagnosis was confirmed by the characteristic disjunction of centromeres in amniocytes. We compare these cases with a child who presented with severe Roberts syndrome. We atte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::383bfe1caf73035e86fbcf25085a8622
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<125::aid-pd822>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199602)16:2<125::aid-pd822>3.0.co
Autor:
L, Brun, P, Dufour, J B, Savary, A S, Valat, O, Boute, D, Subtil, P, Vaast, P, Bourgeot, S, Manouvrier, B, de Martinville, F, Puech
Publikováno v:
Presse medicale (Paris, France : 1983). 29(38)
We describe the different ultrasound findings suggestive of trisomy 18.We conducted a retrospective study in 40 cases of trisomy 18 diagnosed in the department of obstetrics at the Lille University Hospital between 1988 and 1998.Eighty percent of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::323fc3c126eb8ebcbc93959a7eb3ffa9
https://pubmed.ncbi.nlm.nih.gov/11147045
https://pubmed.ncbi.nlm.nih.gov/11147045
Autor:
J. B. Savary, Denis Vinatier, J. Berard, Francis Puech, S. Dubreucq, Ph. Dufour, J.C. Monnier
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 72(2)
Myotonic dystrophy is a rare disease (1/8000), that is rarely associated with pregnancy, due to the fact that parents carrying the disease often encounter hypogonadism. Myotonic dystrophy is a neuro-endocrinian 'heredo-degenerative' dystrophy, with d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6407a5711cc071cc8e3bdee7b3c039d
https://pubmed.ncbi.nlm.nih.gov/9134395
https://pubmed.ncbi.nlm.nih.gov/9134395
Autor:
S, Vanderstichele, J B, Savary, P, Dufour, J, Berard, N, Tordjeman, D, Vinatier, J C, Monnier, B, de Martinville
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 26(6)
The prenatal diagnosis of trisomy for the distal half of the short arm of n(o) 9 chromosome (partial trisomy 9p) has been realized from a morphologic ultrasound. A genetic investigation has permitted to establish that this trisomy was due to a bad se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::44897cdb3744eb3d7db538bcd3ae587f
https://pubmed.ncbi.nlm.nih.gov/9453981
https://pubmed.ncbi.nlm.nih.gov/9453981
Publikováno v:
Prenatal diagnosis. 16(2)
We report two fetuses with typical anomalies of Roberts syndrome. Prenatal diagnosis was confirmed by the characteristic disjunction of centromeres in amniocytes. We compare these cases with a child who presented with severe Roberts syndrome. We atte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bdf4533cdfb4766adae641bfe2a45233
https://pubmed.ncbi.nlm.nih.gov/8878291
https://pubmed.ncbi.nlm.nih.gov/8878291
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
Autor:
V, Houfflin, P, Dufour, D, Vinatier, C, Bernardi, C, Lefebvre, S, Depret, J C, Monnier, J B, Savary, P, Lequien
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 22(6)
The authors present a case of partial trisomy 12q associated with chylothorax, diagnosed at 30 weeks of pregnancy. Cordocentesis for the karyotype as well as thoracocentesis were carried out. In spite of the administration of tocolytic drugs the pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::47ba4c99924e024c99891e3835c2ec85
https://pubmed.ncbi.nlm.nih.gov/8263292
https://pubmed.ncbi.nlm.nih.gov/8263292
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