Zobrazeno 1 - 10
of 319
pro vyhledávání: '"S. A. Whatley"'
Publikováno v:
Clinical and Experimental Dermatology. 39:35-37
Summary X-linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d027067de8241182a0d18e73dc5fb6aa
https://doi.org/10.1111/ced.12202
https://doi.org/10.1111/ced.12202
Autor:
Tosi, Davide1 (AUTHOR) davide.tosi@policlinico.mi.it, Brivio, Margherita1 (AUTHOR) margherita.brivio@unimi.it, Franzi, Sara1 (AUTHOR) alessandro.palleschi@unimi.it, Palleschi, Alessandro1,2 (AUTHOR) bbonit@icloud.com, Bonitta, Gianluca2 (AUTHOR) letizia.morlacchi@unimi.it, Lopez, Gianluca3 (AUTHOR) gianluca.lopez@policlinico.mi.it, Righi, Ilaria1 (AUTHOR) paolo.mendogni@policlinico.mi.it, Mendogni, Paolo1 (AUTHOR) margherita.cattaneo@policlinico.mi.it, Cattaneo, Margherita1 (AUTHOR) francesco.damarco@policlinico.mi.it, Damarco, Francesco1 (AUTHOR) lorenzo.rosso@unimi.it, Morlacchi, Letizia2,4 (AUTHOR) valeria.rossetti@policlinico.mi.it, Rossetti, Valeria4 (AUTHOR), Rosso, Lorenzo1,2 (AUTHOR)
Publikováno v:
Life (2075-1729). Nov2024, Vol. 14 Issue 11, p1474. 8p.
Publikováno v:
Journal of Inherited Metabolic Disease. 28:779-785
Hereditary coproporphyria (HCP) is the least common of the three autosomal dominant acute porphyrias. To compare the sensitivity of metabolite measurements for the identification of asymptomatic HCP, we carried out a molecular and biochemical investi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0050e8de57fbb9616520bac6018ff696
https://doi.org/10.1007/s10545-005-0092-z
https://doi.org/10.1007/s10545-005-0092-z
Autor:
A. G. Roberts, H. Puy, T. A. Dailey, R. R. Morgan, S. D. Whatley, H. A. Dailey, P. Martasek, Y. Nordmann, J.-C. Deybach, G. H. Elder
Publikováno v:
Human Molecular Genetics. 7:1921-1925
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c16bf8013a8c048735d0ce5eb1222209
https://doi.org/10.1093/hmg/7.11.1921
https://doi.org/10.1093/hmg/7.11.1921
Publikováno v:
British Journal of Psychiatry. 167:293-298
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce72c4d03cb123ee0ca57770d68985e
https://doi.org/10.1192/bjp.167.3.293
https://doi.org/10.1192/bjp.167.3.293
Autor:
Inês Feijó Ramos, Maria1 mramos@museu-goeldi.br, Carlos Coimbra, João2 joao.coimbra@ufrgs.br, Trescastro Bergue, Cristianini3 ctbergue@gmail.com
Publikováno v:
Micropaleontology. Aug2024, Vol. 70 Issue 5, p495-510. 16p.
Autor:
Shebl, Eman1, Ali, Ahmed Abdelrahman1 Ahmed.salama585858@gmail.com, Said, Ahmed Mohamed1, Anwar, Mohamed Taher1
Publikováno v:
Zagazig University Medical Journal. Jul2024, Vol. 30 Issue 4, p1364-1371. 8p.
Autor:
S. A. Whatley, J. Mulcrone
Publikováno v:
Psychological Medicine. 23:825-829
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cee55ab7a12977d598f3eb33c7d7459
https://doi.org/10.1017/s0033291700026301
https://doi.org/10.1017/s0033291700026301
Publikováno v:
The British journal of dermatology. 162(3)
Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecular diagnosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::054da12d41620a892a94bfbc12f13fb1
https://pubmed.ncbi.nlm.nih.gov/20374603
https://pubmed.ncbi.nlm.nih.gov/20374603
Publikováno v:
Behavior Genetics. 22:403-413
mRNA and protein populations were studied in the brains of Maudsley reactive (MR) and Maudsley nonreactive (MNR) rat strains, which exhibit differing levels of emotionality. Translational analysis of forebrain mRNA indicated that the relative levels
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1b7725454b8cdfc0a8df31ac86e53a
https://doi.org/10.1007/bf01066612
https://doi.org/10.1007/bf01066612