Wolfram-Syndrom 1

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

Hardy C et al. (1999) Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

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

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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.

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

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

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

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

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

Friedman E et al. (1986) A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).

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Wit JM et al. (1986) Documented vasopressin deficiency in a child with Wolfram syndrome.

Sauer H et al. (1973) [Familial syndrome of diabetes mellitus, primary optic nerve atrophy and inner-ear deafness]

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Stevens PR et al. (1972) Familial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness.

Bretz GW et al. (1970) Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings. Studies and review of literature.

Ikkos DG et al. (1970) Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case.

Rose FC et al. (1966) The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects.

Rorsman G et al. (1967) Optic atrophy and juvenile diabetes mellitus with familial occurrence.

Hurley PJ et al. (1967) Histiocytosis x and double diabetes.

Polymeropoulos MH et al. (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.

Scolding NJ et al. (1996) Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.

Collier DA et al. (1996) Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

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.

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

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