Zobrazeno 1 - 10 of 22 pro vyhledávání: '"E I Johnson"'
1
FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome
Autor: D Grady, X N Chen, R C Marinescu, Joan Overhauser, E I Johnson
Publikováno v: Clinical Genetics. 56:282-288
Most patients with cri-du-chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype-genotype correlation studies, a relatively easy method for the precise determination of the extent of a pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::539f4e7af14f21f82976b998fbb26e3e
https://doi.org/10.1034/j.1399-0004.1999.560405.x
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2
No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome
Autor: Joan Overhauser, E I Johnson, R C Marinescu, R M Hodapp, Elizabeth Dykens
Publikováno v: American Journal of Medical Genetics. 86:66-70
Molecular cytogenetic and developmental assessment was performed on 50 individuals with cri-du-chat syndrome. Fluorescent in situ hybridization analysis was used to confirm a terminal deletion karyotype and map more precisely the location of the dele
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9d76bed7888478db67edccf3c3cb0703
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<66::aid-ajmg13>3.0.co
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3
Identification of candidate genes for psychiatric disorders on 18p11
Autor: Joan Overhauser, K. Rojas, Wade H. Berrettini, E I Johnson, L Liang
Publikováno v: Molecular psychiatry. 5(4)
Linkage studies have suggested a locus for bipolar disorder as well as schizophrenia in the pericentric region of chromosome 18. Several candidate genes have been identified in the region including ACTH, IMP, and G(olf), however no reports of mutatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49315e109127ab3cb64bdc43dc11c75a
https://pubmed.ncbi.nlm.nih.gov/10889549
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4
5p14 deletion associated with microcephaly and seizures
Autor: Marinescu Rc, Tenenholz B, E I Johnson, Punnett Hh, Overhauser J
Publikováno v: Journal of medical genetics. 37(2)
We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79b7b80bfa3e8355a17a58a61ff07488
https://pubmed.ncbi.nlm.nih.gov/10662813
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5
FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome
Autor: R C, Marinescu, E I, Johnson, D, Grady, X N, Chen, J, Overhauser
Publikováno v: Clinical genetics. 56(4)
Most patients with cri-du-chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype-genotype correlation studies, a relatively easy method for the precise determination of the extent of a pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1810a7e6b3b5d2e4c4c95f24388970f1
https://pubmed.ncbi.nlm.nih.gov/10636446
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6
No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome
Autor: R C, Marinescu, E I, Johnson, E M, Dykens, R M, Hodapp, J, Overhauser
Publikováno v: American journal of medical genetics. 86(1)
Molecular cytogenetic and developmental assessment was performed on 50 individuals with cri-du-chat syndrome. Fluorescent in situ hybridization analysis was used to confirm a terminal deletion karyotype and map more precisely the location of the dele
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7d875b8415dfe92bcfd962e4ae316eb0
https://pubmed.ncbi.nlm.nih.gov/10440832
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7
The determination of the γ-isomer of benzene hexachloride in sheep dips and similar formulations
Autor: R. D. A. Polhill, E. I. Johnson, D. C. Abbott
Publikováno v: Journal of the Science of Food and Agriculture. 9:308-312
Benzene hexachloride may be separated from mixtures with most other substances by treatment with fuming sulphuric acid on a kieselguhr column. A method employing this device for the determination of γ-isomer in complex formulations and a method of m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0867ad7e38899dffb7af20c342422620
https://doi.org/10.1002/jsfa.2740090510
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10
Calcium antagonists and stimulus-secretion coupling of aldosterone
Autor: J G, McDougall, E I, Johnson, J P, Coghlan, D A, Denton, B A, Scoggins, R D, Wright
Publikováno v: Journal of hypertension. Supplement : official journal of the International Society of Hypertension. 2(3)
Sheep whose left adrenal gland had been autotransplanted to a combined carotid artery-jugular vein skin loop in the neck were used to study the role of calcium in stimulus-secretion coupling for aldosterone biosynthesis. The calcium antagonists nisol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::84e5e6176769bc6b4bd7dbc590b42a32
https://pubmed.ncbi.nlm.nih.gov/6599712
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