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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V. Rouzier C, et al. Hum Mol Genet. 2017 May 1;26(9):1786. doi: 10.1093/hmg/ddx130. Hum Mol Genet. 2017. PMID: 28475771 Free PMC article. No abstract available.
[Bladder-sphincter disorders associated with Wolfram syndrome].
Ribière C, Kaboré FA, Chaussenot A, Paquis-Flucklinger V, Lenne-Aurier K, Gaillet S, Boissier R, Karsenty G. Ribière C, et al. Prog Urol. 2013 Jun;23(8):519-23. doi: 10.1016/j.purol.2013.03.020. Epub 2013 May 4. Prog Urol. 2013. PMID: 23725582 French.
126 results