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Scholar Results 1 - 10 of about 15 citing Smith: Phenotype-genotype correlations in a series of Wolfram syndrome families. (0.07 sec) 

[PDF] The diagnosis of children with central diabetes insipidus


S Ghirardello, M Garre, A Rossi, M Maghnie - Journal of Pediatric Endocrinology and Metabolism, 2007 - freundpublishing.com
Page 1. © Freund Publishing House Ltd., London Journal of Pediatric
Endocrinology & Metabolism, 20, 359-375 (2007) The Diagnosis ...
Cited by 10 - Related articles - View as HTML - BL Direct - All 3 versions

Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum


RK Mchugh, RA Friedman - ANATOMICAL RECORD PART A DISCOVERIES IN …, 2006 - interscience.wiley.com
Recent genetic and genomic studies have greatly advanced our knowledge of the
structure and function of genes involved in hearing loss. We are starting to
recognize, however, that many of these genes do not appear to follow ...
Cited by 5 - Related articles - BL Direct - All 3 versions

Wolfram syndrome: from definition to molecular bases


MRF Ribeiro, F Crispim, MF Vendramini, RS … - Arquivos Brasileiros de Endocrinologia & Metabologia, 2006 - SciELO Brasil
A síndrome de Wolfram (SW) é uma condição neurodegenerativa progressiva de
herança autossômica recessiva caracterizada pela presença de diabetes
mellitus e atrofia óptica. Freqüentemente também estão presentes o ...
Cited by 3 - Related articles - Cached - All 3 versions

Manifestaciones clínicas y retraso diagnóstico en el síndrome de Wolfram


G Esteban Bueno, FM Gomez Trujillo - Revista Clinica Espanola, 2006 - cat.inist.fr
Wolfram's syndrome(SW): diabetes mellitus(DM), diabetes insipidus(DI), blindness
and deafness, is multiorganic, hereditary and uncommon. Mitochondrial
dysfunction damages the oxidative pathway. Objective. To analyze the ...
Cited by 1 - Related articles - All 3 versions

Atrioventricular Nodal Reentrant Tachycardia in Two Siblings with Wolfram Syndrome


DR Frisch, KF Kwaku, DJ Allocco, PJ … - Journal of cardiovascular electrophysiology, 2006 - interscience.wiley.com
It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ...
Related articles - BL Direct - All 4 versions

[PDF] External Ocular Manifestation of Wolfram Syndrome


M Mehdizadeh, M Mosallaei, AB Haghghi - IRCMJ, 2009 - sid.ir
Wolfram syndrome is a neurodegenerative disorder usually diagnosed in childhood.
The ocular manifestation of wolfram syndrome is mainly characterized by
bilateral optic atrophy; however, pigmentary retinopathy has been reported ...
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Understanding type 1 diabetes genetics–approaches for identification of susceptibility genes …


R Bergholdt - Danish Medical Bulletin, 2009 - dadlnet.dk
The aim of this thesis is to review and discuss different approaches for
identifying susceptibility genes and evaluate their evidence in multi-factorial
diseases using type 1 diabetes (T1D) as a model. The intention has not been ...
Related articles - Cached - All 5 versions

[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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Wolfram syndrome: DIDMOAD

- sherbornegibbs.com [PDF] 
DJ Wake, V Jadhav, LR Whittome, I … - The British Journal of Diabetes & Vascular Disease, 2005 - dvd.sagepub.com
Introduction W olfram syndrome is a rare autosomal recessive condi- tion that
predisposes to the development of type 1 diabetes mellitus (DM) and optic
atrophy (OA). Other clinical features can include diabetes insipidus (DI) ...
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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


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