Results 91 to 100 of about 384 (136)

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

, 2012
Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria.
Yuca, Sevil Ari, Marianne Lodahl, Murat Dogan, Cihangir Akgun, Sevil Ari Yuca, Rendtorff, Nanna Dahl, Lodahl, Marianne, Houda Boulahbel, Akgun, Cihangir, Mehmet Acikgoz, Lisbeth Tranebjærg, Yilmaz, Cahide, Nanna Dahl Rendtorff, Yasar Cesur, Tranebjaerg, Lisbeth, Tranebjærg, Lisbeth, Dogan, Murat, Boulahbel, Houda, Acikgoz, Mehmet, Cesur, Yasar, Cahide Yilmaz   +20 more
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Wolfram syndrome 1 and Wolfram syndrome 2.

, 2012
Purpose of review Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations.
DI BELLA, Chiara, RIGOLI, Luciana Concetta   +1 more
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Characterisation of a zebrafish model of Wolfram Syndrome [PDF]

, 2019
PhD ThesisWolfram Syndrome (WS), is a neurodegenerative disorder defined historically by the combination of diabetes insipidus, diabetes mellitus, optic atrophy and sensorineural deafness (DIDMOAD).
Cairns, George Edward
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Audiologic and molecular genetic findings in DIDMOAD-syndrome

, 2005
Wir stellen audiologische und molekulargenetische Befunde einer deutschen Familie mit DIDMOAD-Syndrom vor. DIDMOAD steht für eine neurodegenerative Erkrankung mit den Symptomen Diabetes mellitus, Diabetes insipidus, Optikusatrophie und Schwerhörigkeit ...
Kunz, J, Berger, R, Schnabel, K, Rausch, P, Schönfeld, R   +4 more
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Case series of wolfram syndrome in Uzbekistan

Journal of Clinical and Translational Endocrinology Case Reports
The clinical picture of Wolfram syndrome and the data of 12 patients are described. The diagnosis of Wolfram syndrome takes time, since clinical symptoms appear within several years, and the subsequence of the onset of different components of the ...
Sh.T. Sultanova, A.V. Alieva, Z.A. Salikhova, N.E. Ismoilova, M.A. Akhmedova   +4 more
doaj   +1 more source

rs10010131A in WFS1 is Associated with Elevated Serum Urea in Type 2 Diabetes Patients Treated with SGLT2 Inhibitors

Therapeutics and Clinical Risk Management
Khaled Naja,1,* Asma A Elashi,1,* Laila Hedaya,1 Najeha Rizwana Anwardeen,1 Mashael Al-Shafai,1,2 Manfredi Rizzo,3,4 Mohamed A Elrayess1,5 1Biomedical Research Center, QU Health, Qatar University, Doha, Qatar; 2Department of Biomedical ...
Naja K, Elashi AA, Hedaya L, Anwardeen NR, Al-Shafai M, Rizzo M, Elrayess MA   +6 more
doaj  

Theater in Düsseldorf / Die vier Temperamente, und Vierzehn Tage nach dem Schuß : heute, Montag den 18. April 1825, wird aufgeführt ; Original-Lustspiel in 4 Aufzügen

von Ziegler. Personen: Derossi, Mad. Senk, Sophie Mühling, Mad. Mevius, Herr Senk, Herr Horina, Herr Mühling, Herr Busch, Mad.

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Theater in Düsseldorf / Cardillac, oder: Die Ruinen von St. Paul : heute, Donnerstag den 17. März 1825, wird aufgeführt: (Zum Vortheil des Unterzeichneten:) (Zum Erstenmale:) ; großes Drama in 3 Aufzügen

nach dem Französischen frei bearbeitet von Götz vom Rheine. Personen: Derossi, Heinrich Wolfram, Herr Senk, Herr Lemke, Herr Busch, Herr Gerard, Herr Schneider, Mad. Senk, Dem. Stephany, Mad. Derossi... Zu dieser Vorstellung ladet ergebenst ein: Heinrich

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Unveiling the pathophysiological basis and developing a gene therapy approach for Wolfram syndrome

Wolfram syndrome: investigating the visual phenotype of Wolfram mice models, the functionality of wolframin protein, and the role of astrocytes in the pathology; developing a AAV vector-based gene therapy to treat the optic atrophy in Wolfram mice ...
VANNI, NICCOLÒ NATANAELE
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Wolframin eroittaminen eräästä teollisuusjätteestä

, 1944
Kajanne, Paavo
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