-
1
-
-
0028808309
-
Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.
-
Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995: 346: 1458-1463.
-
(1995)
Lancet
, vol.346
, pp. 1458-1463
-
-
Barrett, T.G.1
Bundey, S.E.2
Macleod, A.F.3
-
2
-
-
0030826078
-
Wolfram (DIDMOAD) syndrome.
-
Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997: 34: 838-841.
-
(1997)
J Med Genet
, vol.34
, pp. 838-841
-
-
Barrett, T.G.1
Bundey, S.E.2
-
3
-
-
0033361879
-
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.
-
Hardy C, Khanim F, Torres R et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 1999: 65: 1279-1290.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1279-1290
-
-
Hardy, C.1
Khanim, F.2
Torres, R.3
-
4
-
-
48249119938
-
Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.
-
Zenteno JC, Ruiz G, Perez-Cano HJ et al. Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations. Mol Vis 2008: 14: 1353-1357.
-
(2008)
Mol Vis
, vol.14
, pp. 1353-1357
-
-
Zenteno, J.C.1
Ruiz, G.2
Perez-Cano, H.J.3
-
5
-
-
61549117097
-
Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies.
-
Nickl-Jockschat T, Kunert HJ, Herpertz-Dahlmann B et al. Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. Neurocase 2008: 15: 47-52.
-
(2008)
Neurocase
, vol.15
, pp. 47-52
-
-
Nickl-Jockschat, T.1
Kunert, H.J.2
Herpertz-Dahlmann, B.3
-
6
-
-
7944238045
-
First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene.
-
Domenech E, Kruyer H, Gomez C et al. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene. Prenat Diagn 2004: 24: 787-789.
-
(2004)
Prenat Diagn
, vol.24
, pp. 787-789
-
-
Domenech, E.1
Kruyer, H.2
Gomez, C.3
-
7
-
-
1942505270
-
Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
-
Medlej R, Wasson J, Baz P et al. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 2004: 89: 1656-1661.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1656-1661
-
-
Medlej, R.1
Wasson, J.2
Baz, P.3
-
8
-
-
3342905028
-
Phenotype-genotype correlations in a series of Wolfram syndrome families.
-
Smith CJ, Crock PA, King BR et al. Phenotype-genotype correlations in a series of Wolfram syndrome families. Diabetes Care 2004: 27: 2003-2009.
-
(2004)
Diabetes Care
, vol.27
, pp. 2003-2009
-
-
Smith, C.J.1
Crock, P.A.2
King, B.R.3
-
9
-
-
34447293761
-
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
-
Cano A, Rouzier C, Monnot S et al. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet A 2007: 143A: 1605-1612.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1605-1612
-
-
Cano, A.1
Rouzier, C.2
Monnot, S.3
-
10
-
-
0036227462
-
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
-
Minton JA, Hattersley AT, Owen K et al. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes 2002: 51: 1287-1290.
-
(2002)
Diabetes
, vol.51
, pp. 1287-1290
-
-
Minton, J.A.1
Hattersley, A.T.2
Owen, K.3
-
11
-
-
0035888652
-
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
-
Bespalova IN, Van Camp G, Bom SJ et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001: 10: 2501-2508.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2501-2508
-
-
Bespalova, I.N.1
Van Camp, G.2
Bom, S.J.3
-
12
-
-
0038240706
-
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
-
Colosimo A, Guida V, Rigoli L et al. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 2003: 21: 622-629.
-
(2003)
Hum Mutat
, vol.21
, pp. 622-629
-
-
Colosimo, A.1
Guida, V.2
Rigoli, L.3
-
13
-
-
18944381532
-
French Group of WS. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
-
Giuliano F, Bannwarth S, Monnot S et al. French Group of WS. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat 2005: 25: 99-100.
-
(2005)
Hum Mutat
, vol.25
, pp. 99-100
-
-
Giuliano, F.1
Bannwarth, S.2
Monnot, S.3
-
14
-
-
0035511788
-
Wolfram syndrome: a clinical and molecular genetic analysis.
-
Eller P, Föger B, Gander R et al. Wolfram syndrome: a clinical and molecular genetic analysis. Med Genet 2001: 38: E37.
-
(2001)
Med Genet
, vol.38
-
-
Eller, P.1
Föger, B.2
Gander, R.3
-
15
-
-
0034599508
-
Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene.
-
Middle F, Jones I, McCandless F et al. Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene. Am J Med Genet 2000: 96: 154-157.
-
(2000)
Am J Med Genet
, vol.96
, pp. 154-157
-
-
Middle, F.1
Jones, I.2
McCandless, F.3
-
16
-
-
0034786532
-
The HMMTOP transmembrane topology prediction server.
-
Tusnady GE, Simon I. The HMMTOP transmembrane topology prediction server. Bioinformatics 2001: 17: 849-850.
-
(2001)
Bioinformatics
, vol.17
, pp. 849-850
-
-
Tusnady, G.E.1
Simon, I.2
-
17
-
-
0041919371
-
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
-
Hofmann S, Philbrook C, Gerbitz KD et al. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 2003: 12: 2003-2012.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2003-2012
-
-
Hofmann, S.1
Philbrook, C.2
Gerbitz, K.D.3
-
18
-
-
37849018693
-
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.
-
Zatyka M, Ricketts C, Da Silva Xavier G et al. Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. Hum Mol Genet 2008: 17: 190-200.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 190-200
-
-
Zatyka, M.1
Ricketts, C.2
Da Silva Xavier, G.3
-
19
-
-
17744377382
-
Mutation screening of the Wolfram syndrome gene in psychiatric patients.
-
Torres R, Leroy E, Hu X et al. Mutation screening of the Wolfram syndrome gene in psychiatric patients. Mol Psychiatry 2001: 6: 39-43.
-
(2001)
Mol Psychiatry
, vol.6
, pp. 39-43
-
-
Torres, R.1
Leroy, E.2
Hu, X.3
-
20
-
-
10744222064
-
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
-
Cryns K, Sivakumaran TA, Van den Ouweland JM et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003: 22: 275-287.
-
(2003)
Hum Mutat
, vol.22
, pp. 275-287
-
-
Cryns, K.1
Sivakumaran, T.A.2
Van den Ouweland, J.M.3
-
21
-
-
0035105448
-
Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.
-
Sam W, Qin H, Crawford B et al. Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. Clin Genet 2001: 59: 136-138.
-
(2001)
Clin Genet
, vol.59
, pp. 136-138
-
-
Sam, W.1
Qin, H.2
Crawford, B.3
-
22
-
-
56149097205
-
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.
-
D'Annunzio G, Minuto N, D'Amato E et al. Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. Diabetes Care 2008: 31: 1743-1745.
-
(2008)
Diabetes Care
, vol.31
, pp. 1743-1745
-
-
D'Annunzio, G.1
Minuto, N.2
D'Amato, E.3
-
23
-
-
33745366067
-
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.
-
Hofmann S, Bauer MF. Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin. FEBS Lett 2006: 580: 4000-4004.
-
(2006)
FEBS Lett
, vol.580
, pp. 4000-4004
-
-
Hofmann, S.1
Bauer, M.F.2
-
24
-
-
34547536393
-
Common variants in WFS1 confer risk of type 2 diabetes.
-
Sandhu MS, Weedon MN, Fawcett KA et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007: 39: 951-953.
-
(2007)
Nat Genet
, vol.39
, pp. 951-953
-
-
Sandhu, M.S.1
Weedon, M.N.2
Fawcett, K.A.3
-
25
-
-
39049146958
-
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.
-
Franks PW, Rolandsson O, Debenham SL et al. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. Diabetologia 2008: 51: 458-463.
-
(2008)
Diabetologia
, vol.51
, pp. 458-463
-
-
Franks, P.W.1
Rolandsson, O.2
Debenham, S.L.3
|