Zobrazeno 1 - 10
of 84
pro vyhledávání: '"K Bajnóczky"'
Publikováno v:
American Journal of Medical Genetics Part A. :310-312
A boy with trigonocephaly, cleft palate, multiple minor anomalies, flexion deformities of elbows, cryptorchidism, and severe muscular hypotonia had an unbalanced karyotype with duplication of the distal 17q and deletion of the tip of 2p. This was der
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c61165080525b047a7b70be539ace76b
https://doi.org/10.1002/ajmg.a.30249
https://doi.org/10.1002/ajmg.a.30249
Additional small ring chromosome 1 is described with increasing rate of mosaicism in three generations. Ten years after the first examination, the mosaic rates in the patients were strikingly similar. An increase in the expression of phenotypic anoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bd4c98bbd5ce95bb34c8546f0259fe
https://www.bib.irb.hr/549948
https://www.bib.irb.hr/549948
Publikováno v:
Journal of human genetics. 44(1)
The possible effect of in vivo oxygen exposure on chromosomes was examined in lymphocyte cultures of 12 very-low-birthweight infants on the 1st, 8th, and 16th days of intensive care. No increase of cytogenetic anomalies was seen in untreated and bleo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f98d66016619be5b573a1622f05f153
https://pubmed.ncbi.nlm.nih.gov/9929976
https://pubmed.ncbi.nlm.nih.gov/9929976
Publikováno v:
Orvosi hetilap. 139(49)
Anthropometric, dysmorphologic, and cytogenetic investigations of 21 children of 20 survivors of childhood malignancy revealed no signs of congenital anomalies in any of the subjects examined. No increase of mild errors of morphogenesis (minor anomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bc636a6cb3dba634001362de4314843b
https://pubmed.ncbi.nlm.nih.gov/9879198
https://pubmed.ncbi.nlm.nih.gov/9879198
Publikováno v:
Orvosi hetilap. 134(44)
Chorionic villus sampling was performed for chromosome analysis in 387 cases during a 4-year-period. In 115 cases transcervical while in 272 cases transabdominal sampling was carried out. Chromosomal abnormalities were found in 25 cases (6.4%). Autos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ab490ed57d4125823433a5bfc10280a
https://pubmed.ncbi.nlm.nih.gov/8233461
https://pubmed.ncbi.nlm.nih.gov/8233461
Autor:
S, Gardó, K, Bajnóczky
Publikováno v:
Orvosi hetilap. 132(49)
Two hundred cases of spontaneous abortions were studied by analysing chromosomes directly from chorionic villi. Abnormal karyotypes were found in 52% of the investigated cases. Among the chromosome abnormalities the most frequent were the trisomies (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7fae05f0a5e66d91f090ee7da4a9fdbe
https://pubmed.ncbi.nlm.nih.gov/1762755
https://pubmed.ncbi.nlm.nih.gov/1762755
Autor:
K, Bajnóczky, S, Gardó
Publikováno v:
Acta paediatrica Hungarica. 31(4)
Authors report on a Down infant, whose chromosome complement includes an extra small bisatellited marker chromosome. This marker was also found in four healthy members of the family.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ed261dfa40d4ff3318b333ded186361c
https://pubmed.ncbi.nlm.nih.gov/1838697
https://pubmed.ncbi.nlm.nih.gov/1838697
Publikováno v:
Acta paediatrica Hungarica. 31(4)
Analysis of the results of 3411 routine cytogenetic examinations initiated by abnormal phenotype or family history revealed that out of 44 cases with balanced structural aberration 12 patients had an abnormal phenotype. Of the 12 cases, there were fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c0f470cd408f09f1375eb3a3dbd06c09
https://pubmed.ncbi.nlm.nih.gov/1790022
https://pubmed.ncbi.nlm.nih.gov/1790022
Publikováno v:
Annales de genetique. 34(1)
The centromere separation sequence was determined in the mitoses of 5 subjects with "balanced" D/D translocations. Similarly to the acrocentrics, also the D/D fusions belonged to the chromosomes the sister chromatids of which separated last in the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ddba98e765ef355d17fd4d7cd47ac5d
https://pubmed.ncbi.nlm.nih.gov/1952785
https://pubmed.ncbi.nlm.nih.gov/1952785
Publikováno v:
Cancer Genetics and Cytogenetics. 109:79-80
Chromosomal instability was examined in 20 apparently healthy children of survivors of childhood malignancy. As compared to controls, no increase of spontaneous or bleomycin-induced aberrations (including gaps, breaks, sister chromatid exchanges, pul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd865bf6d0e41051c73ecda421ea0bb
https://doi.org/10.1016/s0165-4608(98)00146-0
https://doi.org/10.1016/s0165-4608(98)00146-0