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Scholar Results 1 - 10 of about 48 citing Kinsley: Morbidity and mortality in the Wolfram syndrome.. (0.11 sec) 

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) …

- oxfordjournals.org
TM Strom, K Hortnagel, S Hofmann, F … - Human Molecular …, 1998 - Oxford Univ Press
Wolfram syndrome is an autosomal recessive disorder characterized by juvenile diabetes mellitus,
diabetes insipidus, optic atrophy and a number of neurological symptoms including deafness, ataxia
and peripheral neuropathy. ...
Cited by 204 - Related articles - BL Direct - All 4 versions

Hereditary optic neuropathies


NJ Newman - Walsh and Hoyt's clinical neuro-ophthalmology. - books.google.com
466 CLINICAL NEURO-OPHTHALMOLOGY arterial attenuation and abnormal electroretinography should help
distinguish these diseases from the primary optic neu- ropathies. However, optic nerve disease and
retinal pathol- ogy may also ...
Cited by 52 - Related articles - BL Direct - All 6 versions

Association studies of genetic variation in the WFS1 gene and type 2 diabetes in …

- diabetesjournals.org
JAL Minton, AT Hattersley, K Owen, MI McCarthy, M … - Diabetes, 2002 - Am Diabetes Assoc
Mutations in the WFS1 gene cause β-cell death, resulting in a monogenic form of diabetes known as
Wolfram syndrome. The role of variation in WFS1 in type 2 diabetes susceptibility is not known. We
sequenced the WFS1 gene in 29 type ...
Cited by 50 - Related articles - BL Direct - All 5 versions

WFS 1/wolframin mutations, Wolfram syndrome, and associated diseases


F Khanim, J Kirk, F Latif, TG Barrett - Human mutation, 2001 - interscience.wiley.com
Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes
mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified
that segregated with disease status ...
Cited by 48 - Related articles - BL Direct - All 4 versions

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic …


K Cryns, TA Sivakumaran, JMW Van den … - Human …, 2003 - interscience.wiley.com
WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized
in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and
autosomal dominant low frequency ...
Cited by 45 - Related articles - All 4 versions

Homozygosity mapping identifies an additional locus for Wolfram syndrome on …

- nih.gov
H El-Shanti, AC Lidral, N Jarrah, L Druhan, K … - The American Journal of …, 2000 - Elsevier
Wolfram syndrome, which is sometimes referred to as “DIDMOAD” (diabetes insipidus, diabetes
mellitus, optic atrophy, and deafness), is an autosomal recessive neurodegenerative disorder for
which only insulin-dependent ...
Cited by 40 - Related articles - BL Direct - All 7 versions

Linkage of Wolfram syndrome to chromosome 4p16. 1 and evidence for …

- nih.gov [PDF] 
DA Collier, TG Barrett, D Curtis, A … - American journal of …, 1996 - pubmedcentral.nih.gov
Wolfram syndrome (DIDMOAD syndrome; MIM 222300) is an autosomal recessive neurodegenerative disorder
characterized by juvenile-onset diabetes melli- tus and bilateral optic atrophy. Previous linkage
analysis of multiply affected ...
Cited by 40 - Related articles - All 5 versions

Wolfram syndrome: structural and functional analyses of mutant and wild-type …

- oxfordjournals.org
S Hofmann, C Philbrook, KD Gerbitz, MF … - Human Molecular …, 2003 - Oxford Univ Press
Mutations of the WFS1 gene are responsible for Wolfram syndrome, a rare, recessive disorder
characterized by early-onset, non-autoimmune diabetes mellitus, optic atrophy and further
neurological and endocrinological ...
Cited by 35 - Related articles - BL Direct - All 8 versions

Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese …

- endojournals.org
R Medlej, J Wasson, P Baz, S Azar, I Salti, J … - Journal of Clinical …, 2004 - Endocrine Soc
In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge,
is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were
the presence of insulin-dependent ...
Cited by 26 - Related articles - BL Direct - All 3 versions

Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram …


T Ohata, A Koizumi, T Kayo, Y Shoji, A Watanabe, K … - Human genetics, 1998 - Springer
Abstract Wolfram syndrome (MIM 222300) is character- ized by juvenile-onset diabetes mellitus and
optic atrophy. Previous linkage analyses in the United States and UK families have indicated that
the gene for Wolfram syn- drome ...
Cited by 24 - Related articles - BL Direct - All 3 versions


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