Zobrazeno 1 - 10
of 447
pro vyhledávání: '"J. Ille"'
Autor:
Marija Maskalan, K. Stingl Jankovic, Zorana Grubic, Renata Zunec, Miroslav Dumić, S. Zvecic, K. Dumic Kubat, Nevena Krnić, Vesna Kušec, J. Ille
Publikováno v:
HLA. 88:239-244
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21f6f51e258e61d519e3c508e56b9135
https://doi.org/10.1111/tan.12907
https://doi.org/10.1111/tan.12907
Autor:
Z, Grubic, M, Maskalan, K, Stingl Jankovic, S, Zvecic, K, Dumic Kubat, N, Krnic, R, Zunec, J, Ille, V, Kusec, M, Dumic
Publikováno v:
HLA. 88(5)
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a457df0b9b268ebbbb31d456e8e90b53
https://pubmed.ncbi.nlm.nih.gov/27709802
https://pubmed.ncbi.nlm.nih.gov/27709802
Autor:
R. Zunec, J. Ille, I. Kuvacic, Maria I. New, Vesna Plavšić, Miroslav Dumić, L. Brkljacic, Andrija Kaštelan, Robert C. Wilson
Publikováno v:
American Journal of Medical Genetics. 72:302-306
We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cedc96ae3d5f29704bccae61193c3f7
https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<302::aid-ajmg10>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19971031)72:3<302::aid-ajmg10>3.0.co
Autor:
Yaldiko, Alice1 (AUTHOR), Coonrod, Sarah1 (AUTHOR), Marella, Purvaja1 (AUTHOR), Hurley, Lauren1 (AUTHOR), Jadavji, Nafisa M.1,2,3 (AUTHOR) nafisa.jadavji@mail.mcgill.ca
Publikováno v:
Nutritional Neuroscience. Sep2024, p1-8. 8p. 5 Illustrations.
Autor:
Esfandiarei, Mitra1,2,3 (AUTHOR) mesfan@midwestern.edu, Strash, Shawn G. U.4 (AUTHOR) sstrash@asu.edu, Covaleski, Amanda5 (AUTHOR) amanda.covaleski@midwestern.edu, Ille, Sharadyn6 (AUTHOR) sharadyn.ille@midwestern.edu, Li, Weidang7 (AUTHOR) wli@midwestern.edu, Jadavji, Nafisa M.8,9,10 (AUTHOR) nafisa.jadavji@siu.edu
Publikováno v:
Cells (2073-4409). Sep2024, Vol. 13 Issue 17, p1472. 10p.
Akademický článek
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Autor:
M, Dumić, J, Ille, S, Batinica, M, Cacić, M, Cvitanović, B, Marinović, V, Plavsić, M, Lukenda, A, Radica
Publikováno v:
Lijecnicki vjesnik. 121(1-2)
Two girls (11 and 13 years old) with Cushing's syndrome due to primary adrenocortical micronodular dysplasia (PAMD) are presented. High plasma cortisol concentrations, elevated urinary free cortisol and 17-ketogenic steroids excretion, in addition to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::da9a53a67c482486d0a6d4a36d958c5b
https://pubmed.ncbi.nlm.nih.gov/10377697
https://pubmed.ncbi.nlm.nih.gov/10377697
Publikováno v:
Lijecnicki vjesnik. 120(5)
A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::709cdb18247f3ab886855c41bfce66c5
https://pubmed.ncbi.nlm.nih.gov/9748788
https://pubmed.ncbi.nlm.nih.gov/9748788
Publikováno v:
Lijecnicki vjesnik. 120(1-2)
Cases of a ten-year-old boy with childhood cerebral adrenoleukodystrophy (ALD) and a 22-year-old youngster with adrenomyeloneuropathy (AMN) are reported. ALD is an inherited, X-linked perixisomal disorder associated with the accumulation of very long
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::46167a825daa13d624a9ccfd62a63223
https://pubmed.ncbi.nlm.nih.gov/9650481
https://pubmed.ncbi.nlm.nih.gov/9650481
Autor:
Knežević, Martina1 (AUTHOR) martina.knezevic@unicath.hr
Publikováno v:
Brain Sciences (2076-3425). Jun2024, Vol. 14 Issue 6, p536. 13p.