1 | MT-ND1, WFSMT
|
| The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy.
|
| Mezghani N, Mnif M, Mkaouar-Rebai E, Kallel N, Salem IH, Charfi N, Abid M, Fakhfakh F.
|
| Biochem Biophys Res Commun 411(2):247-52. Epub 2011 Jun 23.
2011
|
2 | WFSMT, LHON
|
| Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
|
| Hofmann S, et al.
|
| Genomics 39 : 8-18. 1997
|
3 | WFSMT
|
| Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome.
|
| Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B, Gerbitz KD.
|
| Mol Cell Biochem 174(1-2):209-13. 1997
|
4 | WFSMT
|
| A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
|
| Barrientos A, et al.
|
| J Clin Invest 97 : 1570-1576. 1996
|
5 | WFSMT, CD200
|
| Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.
|
| Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V.
|
| Am J Hum Genet 58 : 963-970. 1996
|
6 | WFSMT
|
| Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
|
| Collier DA, et al.
|
| Am J Hum Genet 59 : 855-863. 1996
|
7 | WFSMT
|
| Neurodegeneration and diabetes : UK nationwide study of Wolfram (DIDMOAD) syndrome.
|
| Barrett TG, et al.
|
| Lancet 346 : 1458-1463. 1995
|
8 | WFSMT
|
| Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
|
| Pilz D, et al.
|
| J Med Genet 31 : 328-330. 1994
|
9 | WFSMT, WFS1, DIDMOAD
|
| Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.
|
| Polymeropoulos MH, et al.
|
| Nat Genet 8 : 95-97. 1994
|
10 | WFSMT
|
| Wolfram syndrome maps to distal human chromosome 4p. (abstr)
|
| Polymeropoulos MH, et al.
|
| Am J Hum Genet 55 : A200. 1994
|
11 | WFSMT
|
| Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
|
| Rštig A, et al.
|
| J Clin Invest 91 : 1095-1098. 1993
|
12 | WFSMT, CEOP
|
| Mutations in mitochondrial tRNA genes : non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia.
|
| Van den Ouweland JMW, et al.
|
| Nucleic Acids Res 20 : 679-682. 1992
|