Zobrazeno 1 - 10
of 333
pro vyhledávání: '"D, Aarskog"'
Autor:
Anders Molven, C. Ronald Kahn, Jonathon N. Winnay, Rainer König, Tor Claudi, D. Aarskog, Pål R. Njølstad, Jørn V. Sagen, Ingfrid S. Haldorsen, Kishan K. Chudasama, Stefan Johansson, Ju Rang Woo, Bente B. Johansson
Publikováno v:
The American Journal of Human Genetics
The phosphatidylinositol 3 kinase (PI3K) pathway regulates fundamental cellular processes such as metabolism, proliferation, and survival. A central component in this pathway is the p85α regulatory subunit, encoded by PIK3R1. Using whole-exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bee69ae7bea373e367f6a8cff1d16c6
Publikováno v:
Acta Medica Scandinavica. 177:701-705
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a1b7bf05aba9dba31c68cb68391c1c0
https://doi.org/10.1111/j.0954-6820.1965.tb01880.x
https://doi.org/10.1111/j.0954-6820.1965.tb01880.x
Publikováno v:
Clinical Genetics. 32:369-374
Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin facies. He developed severe microcephaly and cataract and died at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b8d6c4232842ccd2de0cf33ef190d47
https://doi.org/10.1111/j.1399-0004.1987.tb03151.x
https://doi.org/10.1111/j.1399-0004.1987.tb03151.x
Publikováno v:
Leukemia Research. 19:57-64
HL-60 cells were induced to differentiate by 1,25-dihydroxyvitamin D3, retinoic acid or DMSO. In order to investigate to which extent this maturation mimics the in vivo monocytic or myeloid differentiation, we compared induced HL-60 cells with periph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2297d2e0e9ea11f42d2731f3a7a81e1d
https://doi.org/10.1016/0145-2126(94)00061-e
https://doi.org/10.1016/0145-2126(94)00061-e
Akademický článek
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Autor:
L T, Rekers-Mombarg, G G, Massa, J M, Wit, A M, Matranga, J M, Buckler, O, Butenandt, J L, Chaussain, H, Frisch, E, Leiberman, R, Yturriaga, D, Aarskog, P G, Chatelain, M, Colle, C, Dacou-Voutetakis, H A, Delemarre-van de Waal, F, Girard, J J, Gosen, U, Irle, M, Jansen, R, Jean, J C, Job, M L, Kaar, F, Kollemann, H L, Lenko, J J, Waelkens
Publikováno v:
The Journal of pediatrics. 132(3 Pt 1)
In children with idiopathic short stature (ISS) we studied the growth-promoting effect at 4 years of recombinant human growth hormone (rhGH) therapy in three dose regimens and evaluated whether increasing the dosage after the first year could prevent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd16883fa1a7b22a05a39c9a76f67025
https://pubmed.ncbi.nlm.nih.gov/9544901
https://pubmed.ncbi.nlm.nih.gov/9544901
Autor:
J, Van den Broeck, G G, Massa, A, Attanasio, A, Matranga, J L, Chaussain, D A, Price, D, Aarskog, J M, Wit
Publikováno v:
The Journal of pediatrics. 127(5)
To study final height after long-term growth hormone (GH) treatment in girls with Turner syndrome (TS).One hundred fifty three patients with TS, participating in five European trials, were included. They started GH treatment in 1987-1989 at an age of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3649997d35eb63a109e154b2a6bfcd0
https://pubmed.ncbi.nlm.nih.gov/7472824
https://pubmed.ncbi.nlm.nih.gov/7472824
Autor:
J, Knudtzon, D, Aarskog
Publikováno v:
Hormone research. 39
The effects of treatment with human growth hormone (GH) for 2 years, followed by combined treatment with GH and oestradiol valerate, were studied in girls with Turner syndrome, aged 7.0-16.6 years. Height SDS (Turner standards) increased after GH tre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b5cca01b3d9d7dd89c49d714d98b92ad
https://pubmed.ncbi.nlm.nih.gov/8395456
https://pubmed.ncbi.nlm.nih.gov/8395456
Autor:
D, Aarskog, A, Reikvam
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 112(19)
We describe a patient who developed torsades de pointes ventricular tachycardia after several years of treatment with disopyramide. The case demonstrates that measuring disopyramide serum concentration provides limited information about correct dosag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab89d1f60815bc14c88a940c81a475f4
https://pubmed.ncbi.nlm.nih.gov/1412257
https://pubmed.ncbi.nlm.nih.gov/1412257
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 110(13)
Following investigation of 172 children submitted for retarded growth, 34 children obtained a specific diagnosis. 11 of these children had growth hormone deficiency and five had coeliac disease. The remaining 138 children either had genetically deter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::83a9d75efa2cfdb2d95a3001ad16451e
https://pubmed.ncbi.nlm.nih.gov/2368050
https://pubmed.ncbi.nlm.nih.gov/2368050