Zobrazeno 1 - 10
of 59
pro vyhledávání: '"H, Pison"'
Publikováno v:
Prenatal Diagnosis. 18:683-692
The coexistence of an epidemiological register and a multidisciplinary centre for prenatal diagnosis promoted us to report data collected during six years (1990-1995) in Isere county on prenatally detected chromosomal aberrations. During the whole st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a2f7c122da9ee3e3fc4889fbd04b039
https://doi.org/10.1002/(sici)1097-0223(199807)18:7<683::aid-pd327>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199807)18:7<683::aid-pd327>3.0.co
Publikováno v:
Prenatal diagnosis. 18(7)
The coexistence of an epidemiological register and a multidisciplinary centre for prenatal diagnosis promoted us to report data collected during six years (1990-1995) in Isère county on prenatally detected chromosomal aberrations. During the whole s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::918dd7e4bc056bede394a91432232e06
https://pubmed.ncbi.nlm.nih.gov/9706649
https://pubmed.ncbi.nlm.nih.gov/9706649
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 19(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f6e99b7fd3a452e8d800c63ea656cabe
https://pubmed.ncbi.nlm.nih.gov/2380512
https://pubmed.ncbi.nlm.nih.gov/2380512
Autor:
E, Huet-Warembourg, D, Legoff, H, Jalbert, B, Sele, P, Amblard, J L, Reymond, P, Jalbert, H, Pison
Publikováno v:
La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris. 58(40)
Structural chromosome anomalies (1 477 cells examined) and sister chromatid exchanges after two replication cycles with BrdU (771 cells studied) were evaluated in 12 patients with diffuse scleroderma and having received no recent or important irradia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a09135fa6e87d336e506d045ce9cca72
https://pubmed.ncbi.nlm.nih.gov/6297016
https://pubmed.ncbi.nlm.nih.gov/6297016
Publikováno v:
Journal de gynecologie, obstetrique et biologie de la reproduction. 18(4)
71 samples taken by the transabdominal route were compared with 71 samples taken by forceps through the cervix. A fine (1 mm) transabdominal choriocentesis needle with a thin wall (0.1 mm), a short bevel, and a lateral hole was made to bring together
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c9e05ba7563a14854c0cbcc30b94e024
https://pubmed.ncbi.nlm.nih.gov/2778282
https://pubmed.ncbi.nlm.nih.gov/2778282
Publikováno v:
Annales de genetique. 20(1)
An r(14) is observed in monozygotic twins, with psychomotor retardation and no obvious somatic malformation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5611d369842bc2375bde1c5e0ce5aa6
https://pubmed.ncbi.nlm.nih.gov/302677
https://pubmed.ncbi.nlm.nih.gov/302677
Publikováno v:
Annales de genetique. 25(3)
A duplication 10q22q25 was studied in the fetus of a mother carrier of a t(14q21q). On this occasion, duplications reported in the literature are reviewed. Chromosomal rearrangements involving two breaks always result in tandem duplications, while th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4c60e396fd582adc9d6c885d1f0e50d5
https://pubmed.ncbi.nlm.nih.gov/6982659
https://pubmed.ncbi.nlm.nih.gov/6982659
Publikováno v:
Annales de genetique. 20(4)
A comparative study of five observations of a r (20) syndrome characterized by facial dysmorphism, the absence of severe malformations, and rather late onset of encephalopathy and seizures.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b49824560d0f5e6d1c8ab46a23fbbfff
https://pubmed.ncbi.nlm.nih.gov/305753
https://pubmed.ncbi.nlm.nih.gov/305753
Publikováno v:
Journal de genetique humaine. 32(5)
One of the children of a t(15;22) (q111;p11) woman has lost the minute metacentric der(15) without any clinical consequence, indicating the inocuity of the 15pter----q111 and 22pter----p11 monosomies. The segregation mechanism of this monosomy and, f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f20b99aff64468392ac207ccf0505905
https://pubmed.ncbi.nlm.nih.gov/6527132
https://pubmed.ncbi.nlm.nih.gov/6527132
Publikováno v:
Journal de genetique humaine. 35(4)
From 10 observations of trisomy 13, 3 presented an elevated amniotic fluid alpha-fetoprotein level considered as unusual in 2 cases, superior to cut-off level in the other case. Macroscopic examination of the three fetus could not reveal a cause of A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c3bcaaf5705ff639940077df70fee78
https://pubmed.ncbi.nlm.nih.gov/2443615
https://pubmed.ncbi.nlm.nih.gov/2443615