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pro vyhledávání: '"Isabel Hanson"'
Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular changes, some present from birth and some arising progressively over time. Most cases are ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22a02171422339603b0d1e348438011
https://europepmc.org/articles/PMC3449076/
https://europepmc.org/articles/PMC3449076/
Autor:
Judy Fantes, Bert Redeker, Matthew Breen, Shelagh Boyle, John Brown, Judy Fletcher, Sinead Jones, Wendy Bickmore, Yoshimitsu Fukushima, Marcel Mannens, Sarah Danes, Veronica van Heyningen, Isabel Hanson
Publikováno v:
Human molecular genetics, 4(3), 415-422. Oxford University Press
Current evidence suggests that aniridia (absence of iris) is caused by loss of function of one copy of the PAX6 gene, which maps to 11p13. We present the further characterisation of two aniridia pedigrees in which the disease segregates with chromoso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c459ec43295d1d4c37ec0574fa0d64c9
https://pure.amc.nl/en/publications/aniridiaassociated-cytogenetic-rearrangements-suggest-that-a-position-effect-may-cause-the-mutant-phenotype(72f731fc-3bfb-4f7b-ac39-94e5e1501a70).html
https://pure.amc.nl/en/publications/aniridiaassociated-cytogenetic-rearrangements-suggest-that-a-position-effect-may-cause-the-mutant-phenotype(72f731fc-3bfb-4f7b-ac39-94e5e1501a70).html
Publikováno v:
Europe PubMed Central
Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::100d6cfe013a488130e845c64dfcab8e
http://europepmc.org/abstract/med/1334370
http://europepmc.org/abstract/med/1334370
Publikováno v:
Scopus-Elsevier
Europe PubMed Central
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4ccfb0804ab01d2512add180a866b5b7
http://www.scopus.com/inward/record.url?eid=2-s2.0-49149083791&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-49149083791&partnerID=MN8TOARS
Autor:
Isabel Hanson
Publikováno v:
Physical Review. 46:122-123
A simple photographic method of measuring intensities in the Raman effect was devised. The ratio of the intensities of the strong Raman doublet of C${\mathrm{O}}_{2}$ was found to be 0.572 instead of 0.667 as roughly estimated by Dickinson, Dillon an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8c8c1a705aac29bcac3c9e4b83fd8ce
https://doi.org/10.1103/physrev.46.122
https://doi.org/10.1103/physrev.46.122
