Wolfram-Syndrom 1

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Fraser FC et al. (1977) Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

Richardson JE et al. (1977) Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.

Page MM et al. (1976) Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.

Swift RG et al. (1998) Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

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Gabreëls BA et al. (1998) The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2.

Swift RG et al. (1991) Psychiatric disorders in 36 families with Wolfram syndrome.

El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.

Sam W et al. (2001) Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.

Khanim F et al. (2001) WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

Hansen L et al. (2005) Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Eiberg H et al. (2006) Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Inoue H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Strom TM et al. (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Gossain VV et al. (1975) Co-existent diabetes mellitus and diabetes insipidus, a familial disease.

Pilley SF et al. (1976) Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.

SHAW DA et al. (1958) Optic atrophy and nerve deafness in diabetes mellitus.

RAITI S et al. (1963) DIABETES MELLITUS AND INSIPIDUS IN TWO SISTERS.

Medlej R et al. (2004) Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

Rando TA et al. (1992) Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.

Cano A et al. (2007) Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Salih MA et al. (1991) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families.

Swift RG et al. (1990) Psychiatric findings in Wolfram syndrome homozygotes.

Borgna-Pignatti C et al. (1989) Thiamine-responsive anemia in DIDMOAD syndrome.

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