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Scholar Results 1 - 10 of about 101 related to d'Annunzio: Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness). (0.10 sec) 

Wolfram Syndrome (Diabetes Insipidus, Diabetes, Optic Atrophy, and Deafness)

- diabetesjournals.org
G d'Annunzio, N Minuto, E D'Amato, T de Toni, … - Diabetes care, 2008 - Am Diabetes Assoc
OBJECTIVE—Wolfram syndrome is an autosomal recessive neurodegenerative
disorder characterized by diabetes insipidus, diabetes (nonautoimmune), optic
atrophy, and deafness (a set of conditions referred to as DIDMOAD). The ...
Related articles - All 6 versions

Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome


E Pakdemirli, N Karabulut, LS Bir, Y Sermez - Australasian radiology, 2005 - interscience.wiley.com
Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes
insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide
spectrum of abnormalities of the central nervous system, urinary tract and ...
Cited by 5 - Related articles - All 3 versions

Expressional and functional studies of Wolframin, the gene function deficient in Wolfram …


C Philbrook, E Fritz, H Weiher - Experimental gerontology, 2005 - Elsevier
Wolfram or DIDMOAD Syndrome is clinically characterised by diabetes mellitus,
diabetes insipidus, optical atrophy and deafness (Fraser and Gunn, 1977 and
Richardson and Hamilton, 1977). Generally, diabetes mellitus appears in the ...
Cited by 7 - Related articles - All 3 versions

An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient

- oxfordjournals.org [PDF] 
GB Piccoli, E Mezza, A Jeantet, GP Segoloni - Nephrology Dialysis Transplantation, 2003 - ERA-EDTA
Page 1. Teaching Point (Section Editor: K. Kühn) An uncommon genetic syndrome
with acute renal failure in a 30-year-old diabetic patient ...
Cited by 1 - Related articles - BL Direct - All 4 versions

Wolfram syndrome. How much could knowledge challenge the fate? A case report


LP Fabbri, M Nucera, A Grippo, A Menicucci, … - Medical science monitor, 2005 - cat.inist.fr
Background: Wolfram syndrome(WS) is a rare, autosomic recessive genetic
disorder. The mortality rate of WS is about 65% before 35 years of age. It
presents diagnostic challenges in the clinical practice due to its ...
Cited by 1 - Related articles - BL Direct - All 3 versions

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram …


PH de Recherche Clinique - American Journal of Medical Genetics Part C: Seminars … - interscience.wiley.com
How to cite this article: Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J,
Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V,
French Group of Wolfram Syndrome, Vialettes B. 2007. Identification of ...
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[CITATION] Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram …


A Cano - American Journal of Medical Genetics Part A, 2007 - Wiley Subscription Services, Inc., A Wiley Company …
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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a …


A Colosimo, V Guida, L Rigoli, C Di Bella, A … - Human mutation, 2003 - interscience.wiley.com
Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and
neurodegeneration also known by the acronym DIDMOAD from the major clinical
features, including diabetes insipidus, diabetes mellitus, optic atrophy, ...
Cited by 12 - Related articles - BL Direct - All 4 versions

Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with …


K Inukai, T Awata, K Inoue, S Kurihara, Y … - Diabetes research and clinical practice, 2005 - Elsevier
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early
onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and
diabetes insipidus. Affected individuals may also have renal tract ...
Cited by 2 - Related articles - All 10 versions

Male mice with deleted Wolframin (Wfs1) gene have reduced fertility


K Noormets, S Koks, A Kavak, A Arend, M … - Reproductive Biology and Endocrinology: RB&E, 2009 - pubmedcentral.nih.gov
Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by
non-autoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and
sensorineural deafness. Some reports have described hypogonadism in male WS ...
Related articles - All 9 versions


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