-
1
-
-
0000804149
-
Diabetes mellitus and simple optic atrophy among siblings: report of four cases
-
Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clinic Proc 1938, 13:715-718.
-
(1938)
Mayo Clinic Proc
, vol.13
, pp. 715-718
-
-
Wolfram, D.J.1
Wagener, H.P.2
-
2
-
-
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
-
4
-
-
84982501596
-
Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients.
-
Cremers CW, Wijdeveld PG, Pinckers AJ. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatr Scand Suppl 1977, 1-16.
-
(1977)
Acta Paediatr Scand Suppl
, pp. 1-16
-
-
Cremers, C.W.1
Wijdeveld, P.G.2
Pinckers, A.J.3
-
5
-
-
0023916334
-
Contrasting features of insulin dependent diabetes mellitus associated with neuroectodermal defects and classical insulin dependent diabetes mellitus
-
Garcia-Luna Villechenous E, Leal-Cerro A. Contrasting features of insulin dependent diabetes mellitus associated with neuroectodermal defects and classical insulin dependent diabetes mellitus. Acta Paediatr Scand 1988, 77:413-418.
-
(1988)
Acta Paediatr Scand
, vol.77
, pp. 413-418
-
-
Garcia-Luna, P.P.1
Villechenous, E.2
Leal-Cerro, A.3
-
6
-
-
0017162303
-
Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness
-
Page MM, Asmal AC, Edwards CR. Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Q J Med 1976, 45:505-520.
-
(1976)
Q J Med
, vol.45
, pp. 505-520
-
-
Page, M.M.1
Asmal, A.C.2
Edwards, C.R.3
-
7
-
-
0028822208
-
Morbidity and mortality in the Wolfram syndrome
-
Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995, 18:1566-1570.
-
(1995)
Diabetes Care
, vol.18
, pp. 1566-1570
-
-
Kinsley, B.T.1
Swift, M.2
Dumont, R.H.3
Swift, R.G.4
-
8
-
-
1942505270
-
Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population
-
Medlej R, Wasson J, Baz P. 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
-
9
-
-
19144366747
-
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.
-
Barrientos A, Casademont J, Saiz A. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 1996, 58:963-970.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 963-970
-
-
Barrientos, A.1
Casademont, J.2
Saiz, A.3
-
10
-
-
0026753325
-
Mitochondrial abnormalities in the DIDMOAD syndrome
-
Bundey S, Poulton K, Whitwell H, Curtis E, Brown IA, Fielder AR. Mitochondrial abnormalities in the DIDMOAD syndrome. J Inherit Metab Dis 1992, 15:315-319.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 315-319
-
-
Bundey, S.1
Poulton, K.2
Whitwell, H.3
Curtis, E.4
Brown, I.A.5
Fielder, A.R.6
-
11
-
-
0031024138
-
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes
-
Hofmann S, Bezold R, Jaksch M. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 1997, 39:8-18.
-
(1997)
Genomics
, vol.39
, pp. 8-18
-
-
Hofmann, S.1
Bezold, R.2
Jaksch, M.3
-
12
-
-
0027526665
-
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300)
-
Rotig A, Cormier V, Chatelain P. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 1993, 91:1095-1098.
-
(1993)
J Clin Invest
, vol.91
, pp. 1095-1098
-
-
Rotig, A.1
Cormier, V.2
Chatelain, P.3
-
13
-
-
0034081869
-
The mitochondrial genome in Wolfram syndrome
-
Barrett TG, Scott-Brown M, Seller A, Bednarz A, Poulton K, Poulton J. The mitochondrial genome in Wolfram syndrome. J Med Genet 2000, 37:463-466.
-
(2000)
J Med Genet
, vol.37
, pp. 463-466
-
-
Barrett, T.G.1
Scott-Brown, M.2
Seller, A.3
Bednarz, A.4
Poulton, K.5
Poulton, J.6
-
14
-
-
0028304922
-
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness
-
Jackson MJ, Bindoff LA, Weber K. Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes Care 1994, 17:728-733.
-
(1994)
Diabetes Care
, vol.17
, pp. 728-733
-
-
Jackson, M.J.1
Bindoff, L.A.2
Weber, K.3
-
15
-
-
0029967415
-
Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome
-
Seyrantepe V, Topaloglu H, Simsek E, Ozguc M, Yordam N. Mitochondrial DNA studies in Wolfram (DIDMOAD) syndrome. Lancet 1996, 347:695-696.
-
(1996)
Lancet
, vol.347
, pp. 695-696
-
-
Seyrantepe, V.1
Topaloglu, H.2
Simsek, E.3
Ozguc, M.4
Yordam, N.5
-
16
-
-
13344260008
-
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
-
Barrientos A, Volpini V, Casademont J. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996, 97:1570-1576.
-
(1996)
J Clin Invest
, vol.97
, pp. 1570-1576
-
-
Barrientos, A.1
Volpini, V.2
Casademont, J.3
-
17
-
-
0028038337
-
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
-
Polymeropoulos MH, Swift RG, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet 1994, 8:95-97.
-
(1994)
Nat Genet
, vol.8
, pp. 95-97
-
-
Polymeropoulos, M.H.1
Swift, R.G.2
Swift, M.3
-
18
-
-
0029820319
-
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
-
Collier DA, Barrett TG, Curtis D. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Am J Hum Genet 1996, 59:855-863.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 855-863
-
-
Collier, D.A.1
Barrett, T.G.2
Curtis, D.3
-
19
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
Inoue H, Tanizawa Y, Wasson J. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998, 20:143-148.
-
(1998)
Nat Genet
, vol.20
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
-
20
-
-
0031761895
-
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
-
Strom TM, Hortnagel K, Hofmann S. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 1998, 7:2021-2028.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 2021-2028
-
-
Strom, T.M.1
Hortnagel, K.2
Hofmann, S.3
-
21
-
-
0035032066
-
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
-
Khanim F, Kirk J, Latif F, Barrett TG. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001, 17:357-367.
-
(2001)
Hum Mutat
, vol.17
, pp. 357-367
-
-
Khanim, F.1
Kirk, J.2
Latif, F.3
Barrett, T.G.4
-
22
-
-
0026603422
-
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia
-
van den Ouweland JM, Bruining GJ, Lindhout D, Wit JM, Veldhuyzen BF, Maassen JA. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucleic Acids Res 1992, 20:679-682.
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 679-682
-
-
van den Ouweland, J.M.1
Bruining, G.J.2
Lindhout, D.3
Wit, J.M.4
Veldhuyzen, B.F.5
Maassen, J.A.6
-
23
-
-
0041919371
-
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
-
Hofmann S, Philbrook C, Gerbitz KD, Bauer MF. 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
Bauer, M.F.4
-
24
-
-
24644480656
-
Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells
-
Philbrook C, Fritz E, Weiher H. Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells. Exp Gerontol 2005, 40:671-678.
-
(2005)
Exp Gerontol
, vol.40
, pp. 671-678
-
-
Philbrook, C.1
Fritz, E.2
Weiher, H.3
-
25
-
-
0347362797
-
Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium
-
Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. J Biol Chem 2003, 278:52755-52762.
-
(2003)
J Biol Chem
, vol.278
, pp. 52755-52762
-
-
Osman, A.A.1
Saito, M.2
Makepeace, C.3
Permutt, M.A.4
Schlesinger, P.5
Mueckler, M.6
-
26
-
-
0035283066
-
WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
-
Takeda K, Inoue H, Tanizawa Y. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001, 10:477-484.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 477-484
-
-
Takeda, K.1
Inoue, H.2
Tanizawa, Y.3
-
27
-
-
33749342602
-
WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum
-
Takei D, Ishihara H, Yamaguchi S. WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. FEBS Lett 2006, 580:5635-5640.
-
(2006)
FEBS Lett
, vol.580
, pp. 5635-5640
-
-
Takei, D.1
Ishihara, H.2
Yamaguchi, S.3
-
28
-
-
0026654505
-
Calcium is required for folding of newly made subunits of the asialoglycoprotein receptor within the endoplasmic reticulum
-
Lodish HF, Kong N, Wikstrom L. Calcium is required for folding of newly made subunits of the asialoglycoprotein receptor within the endoplasmic reticulum. J Biol Chem 1992, 267:12753-12760.
-
(1992)
J Biol Chem
, vol.267
, pp. 12753-12760
-
-
Lodish, H.F.1
Kong, N.2
Wikstrom, L.3
-
29
-
-
28244435870
-
WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells
-
Fonseca SG, Fukuma M, Lipson KL. WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells. J Biol Chem 2005, 280:39609-39615.
-
(2005)
J Biol Chem
, vol.280
, pp. 39609-39615
-
-
Fonseca, S.G.1
Fukuma, M.2
Lipson, K.L.3
-
30
-
-
33745202552
-
WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells
-
Yamada T, Ishihara H, Tamura A. WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells. Hum Mol Genet 2006, 15:1600-1609.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1600-1609
-
-
Yamada, T.1
Ishihara, H.2
Tamura, A.3
-
31
-
-
0042671500
-
Functional effects of expression of wolframin-antisense transcripts in BRIN-BD11 beta-cells
-
McBain SC, Morgan NG. Functional effects of expression of wolframin-antisense transcripts in BRIN-BD11 beta-cells. Biochem Biophys Res Commun 2003, 307:684-688.
-
(2003)
Biochem Biophys Res Commun
, vol.307
, pp. 684-688
-
-
McBain, S.C.1
Morgan, N.G.2
-
32
-
-
3342905028
-
Phenotype-genotype correlations in a series of wolfram syndrome families
-
Smith CJ, Crock PA, King BR, Meldrum CJ, Scott RJ. 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
Meldrum, C.J.4
Scott, R.J.5
-
33
-
-
34447293761
-
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome
-
Cano A, Rouzier C, Monnot S. 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
-
34
-
-
0033942396
-
Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
-
El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000, 66:1229-1236.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1229-1236
-
-
El-Shanti, H.1
Lidral, A.C.2
Jarrah, N.3
Druhan, L.4
Ajlouni, K.5
-
35
-
-
35348939526
-
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
-
Amr S, Heisey C, Zhang M. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet 2007, 81:673-683.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 673-683
-
-
Amr, S.1
Heisey, C.2
Zhang, M.3
-
36
-
-
0024599929
-
Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram's syndrome
-
Karasik A, O'Hara C, Srikanta S. Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram's syndrome. Diabetes Care 1989, 12:135-138.
-
(1989)
Diabetes Care
, vol.12
, pp. 135-138
-
-
Karasik, A.1
O'Hara, C.2
Srikanta, S.3
-
37
-
-
34548406958
-
Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes
-
Cano A, Molines L, Valero R, Simonin G, Paquis-Flucklinger V, Vialettes B. Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes. Diabetes Care 2007, 30:2327-2330.
-
(2007)
Diabetes Care
, vol.30
, pp. 2327-2330
-
-
Cano, A.1
Molines, L.2
Valero, R.3
Simonin, G.4
Paquis-Flucklinger, V.5
Vialettes, B.6
-
38
-
-
0022492483
-
Wolfram (DIDMOAD) syndrome: a complex long-term problem in management
-
Peden NR, Gay JD, Jung RT, Kuwayti K. Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. Q J Med 1986, 58:167-180.
-
(1986)
Q J Med
, vol.58
, pp. 167-180
-
-
Peden, N.R.1
Gay, J.D.2
Jung, R.T.3
Kuwayti, K.4
-
39
-
-
0022468187
-
Wolfram syndrome: report of four new cases and a review of literature
-
Fishman L, Ehrlich RM. Wolfram syndrome: report of four new cases and a review of literature. Diabetes Care 1986, 9:405-408.
-
(1986)
Diabetes Care
, vol.9
, pp. 405-408
-
-
Fishman, L.1
Ehrlich, R.M.2
-
40
-
-
2942731683
-
Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion
-
Ishihara H, Takeda S, Tamura A. Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion. Hum Mol Genet 2004, 13:1159-1170.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1159-1170
-
-
Ishihara, H.1
Takeda, S.2
Tamura, A.3
-
42
-
-
50249102208
-
Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system
-
Kawano J, Tanizawa Y, Shinoda K. Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. J Comp Neurol 2008, 510:1-23.
-
(2008)
J Comp Neurol
, vol.510
, pp. 1-23
-
-
Kawano, J.1
Tanizawa, Y.2
Shinoda, K.3
-
43
-
-
33748710237
-
Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey
-
Yamamoto H, Hofmann S, Hamasaki DI. Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. Exp Eye Res 2006, 83:1303-1306.
-
(2006)
Exp Eye Res
, vol.83
, pp. 1303-1306
-
-
Yamamoto, H.1
Hofmann, S.2
Hamasaki, D.I.3
-
44
-
-
0031466720
-
Optic atrophy in Wolfram (DIDMOAD) syndrome
-
Barrett TG, Bundey SE, Fielder AR, Good PA. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 1997, 11:882-888.
-
(1997)
Eye
, vol.11
, pp. 882-888
-
-
Barrett, T.G.1
Bundey, S.E.2
Fielder, A.R.3
Good, P.A.4
-
45
-
-
0036015658
-
Ophthalmologic findings in fifteen patients with Wolfram syndrome
-
Al-Till M, Jarrah NS, Ajlouni KM. Ophthalmologic findings in fifteen patients with Wolfram syndrome. Eur J Ophthalmol 2002, 12:84-88.
-
(2002)
Eur J Ophthalmol
, vol.12
, pp. 84-88
-
-
Al-Till, M.1
Jarrah, N.S.2
Ajlouni, K.M.3
-
46
-
-
0032787909
-
Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients
-
Baz P, Azar ST, Medlej R, Bejjani R, Halabi G, Salti I. Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients. Diabetes Care 1999, 22:1376-1378.
-
(1999)
Diabetes Care
, vol.22
, pp. 1376-1378
-
-
Baz, P.1
Azar, S.T.2
Medlej, R.3
Bejjani, R.4
Halabi, G.5
Salti, I.6
-
48
-
-
0033852617
-
A DIDMOAD syndrome family with juvenile glaucoma and myopia findings
-
Bekir NA, Gungor K, Guran S. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings. Acta Ophthalmol Scand 2000, 78:480-482.
-
(2000)
Acta Ophthalmol Scand
, vol.78
, pp. 480-482
-
-
Bekir, N.A.1
Gungor, K.2
Guran, S.3
-
49
-
-
0022532509
-
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution
-
Blasi C, Pierelli F, Rispoli E, Saponara M, Vingolo E, Andreani D. Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution. Diabetes Care 1986, 9:521-528.
-
(1986)
Diabetes Care
, vol.9
, pp. 521-528
-
-
Blasi, C.1
Pierelli, F.2
Rispoli, E.3
Saponara, M.4
Vingolo, E.5
Andreani, D.6
-
50
-
-
2942637726
-
Radiological findings in Wolfram syndrome
-
Hadidy AM, Jarrah NS, Al-Till MI, El-Shanti HE, Ajlouni KM. Radiological findings in Wolfram syndrome. Saudi Med J 2004, 25:638-641.
-
(2004)
Saudi Med J
, vol.25
, pp. 638-641
-
-
Hadidy, A.M.1
Jarrah, N.S.2
Al-Till, M.I.3
El-Shanti, H.E.4
Ajlouni, K.M.5
-
51
-
-
18444415128
-
Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome
-
Pakdemirli E, Karabulut N, Bir LS, Sermez Y. Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. Australas Radiol 2005, 49:189-191.
-
(2005)
Australas Radiol
, vol.49
, pp. 189-191
-
-
Pakdemirli, E.1
Karabulut, N.2
Bir, L.S.3
Sermez, Y.4
-
52
-
-
0033406686
-
MRI of Wolfram syndrome (DIDMOAD)
-
Galluzzi P, Filosomi G, Vallone IM, Bardelli AM, Venturi C. MRI of Wolfram syndrome (DIDMOAD). Neuroradiology 1999, 41:729-731.
-
(1999)
Neuroradiology
, vol.41
, pp. 729-731
-
-
Galluzzi, P.1
Filosomi, G.2
Vallone, I.M.3
Bardelli, A.M.4
Venturi, C.5
-
53
-
-
33847097159
-
Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities
-
Ito S, Sakakibara R, Hattori T. Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities. AJNR Am J Neuroradiol 2007, 28:305-306.
-
(2007)
AJNR Am J Neuroradiol
, vol.28
, pp. 305-306
-
-
Ito, S.1
Sakakibara, R.2
Hattori, T.3
-
54
-
-
1842408352
-
Wolfram syndrome: a neuropathological study
-
Genis D, Davalos A, Molins A, Ferrer I. Wolfram syndrome: a neuropathological study. Acta Neuropathol 1997, 93:426-429.
-
(1997)
Acta Neuropathol
, vol.93
, pp. 426-429
-
-
Genis, D.1
Davalos, A.2
Molins, A.3
Ferrer, I.4
-
55
-
-
0032820070
-
Evidence of widespread axonal pathology in Wolfram syndrome
-
Shannon P, Becker L, Deck J. Evidence of widespread axonal pathology in Wolfram syndrome. Acta Neuropathol 1999, 98:304-308.
-
(1999)
Acta Neuropathol
, vol.98
, pp. 304-308
-
-
Shannon, P.1
Becker, L.2
Deck, J.3
-
56
-
-
0024400891
-
Vasopressin secretion in the DIDMOAD (Wolfram) syndrome
-
Thompson CJ, Charlton J, Walford S. Vasopressin secretion in the DIDMOAD (Wolfram) syndrome. Q J Med 1989, 71:333-345.
-
(1989)
Q J Med
, vol.71
, pp. 333-345
-
-
Thompson, C.J.1
Charlton, J.2
Walford, S.3
-
57
-
-
0031733542
-
The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2
-
Gabreels BA, Swaab DF, de Kleijn DP. The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2. J Clin Endocrinol Metab 1998, 83:4026-4033.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4026-4033
-
-
Gabreels, B.A.1
Swaab, D.F.2
de Kleijn, D.P.3
-
58
-
-
30944434001
-
Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome
-
Lombardo F, Chiurazzi P, Hortnagel K. Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome. J Pediatr Endocrinol Metab 2005, 18:1391-1397.
-
(2005)
J Pediatr Endocrinol Metab
, vol.18
, pp. 1391-1397
-
-
Lombardo, F.1
Chiurazzi, P.2
Hortnagel, K.3
-
59
-
-
0037361670
-
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
-
Cryns K, Thys S, Van LL. The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 2003, 119:247-256.
-
(2003)
Histochem Cell Biol
, vol.119
, pp. 247-256
-
-
Cryns, K.1
Thys, S.2
Van, L.L.3
-
60
-
-
0026645259
-
Three cases of didmoad or Wolfram's syndrome: urological aspects
-
Thanos A, Farmakis A, Sami Z, Davillas E, Davillas N. Three cases of didmoad or Wolfram's syndrome: urological aspects. J Urol 1992, 148:150-152.
-
(1992)
J Urol
, vol.148
, pp. 150-152
-
-
Thanos, A.1
Farmakis, A.2
Sami, Z.3
Davillas, E.4
Davillas, N.5
-
61
-
-
0027260655
-
Wolfram's (DIDMOAD) syndrome and its urological manifestation
-
Aboseif S, Gasparini M, Schmidt R, Tanagho E. Wolfram's (DIDMOAD) syndrome and its urological manifestation. Br J Urol 1993, 72:106-111.
-
(1993)
Br J Urol
, vol.72
, pp. 106-111
-
-
Aboseif, S.1
Gasparini, M.2
Schmidt, R.3
Tanagho, E.4
-
62
-
-
0033070904
-
Urological manifestations of the Wolfram syndrome: observations in 14 patients
-
Tekgul S, Oge O, Simsek E, Yordam N, Kendi S. Urological manifestations of the Wolfram syndrome: observations in 14 patients. J Urol 1999, 161:616-617.
-
(1999)
J Urol
, vol.161
, pp. 616-617
-
-
Tekgul, S.1
Oge, O.2
Simsek, E.3
Yordam, N.4
Kendi, S.5
-
63
-
-
0037282001
-
Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature
-
Simsek E, Simsek T, Tekgul S, Hosal S, Seyrantepe V, Aktan G. Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. Acta Paediatr 2003, 92:55-61.
-
(2003)
Acta Paediatr
, vol.92
, pp. 55-61
-
-
Simsek, E.1
Simsek, T.2
Tekgul, S.3
Hosal, S.4
Seyrantepe, V.5
Aktan, G.6
-
64
-
-
0015372496
-
Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria
-
Niemeyer G, Marquardt JL. Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria. Invest Ophthalmol 1972, 11:617-624.
-
(1972)
Invest Ophthalmol
, vol.11
, pp. 617-624
-
-
Niemeyer, G.1
Marquardt, J.L.2
-
65
-
-
0032787111
-
A case of Wolfram syndrome in triplets: some newly recognized features
-
Jarrah NS, El-Shanti H, Shennak MM, Ajlouni KM. A case of Wolfram syndrome in triplets: some newly recognized features. Ann Saudi Med 1999, 19:132-134.
-
(1999)
Ann Saudi Med
, vol.19
, pp. 132-134
-
-
Jarrah, N.S.1
El-Shanti, H.2
Shennak, M.M.3
Ajlouni, K.M.4
-
66
-
-
0029330332
-
Various clinical aspects of DIDMOAD (Wolfram) syndrome
-
Okten A, Gedik Y, Demirci A, Mocan H, Erduran E, Aslan Y. Various clinical aspects of DIDMOAD (Wolfram) syndrome. Turk J Pediatr 1995, 37:235-240.
-
(1995)
Turk J Pediatr
, vol.37
, pp. 235-240
-
-
Okten, A.1
Gedik, Y.2
Demirci, A.3
Mocan, H.4
Erduran, E.5
Aslan, Y.6
-
69
-
-
0037234663
-
An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient
-
Piccoli GB, Mezza E, Jeantet A, Segoloni GP. An uncommon genetic syndrome with acute renal failure in a 30-year-old diabetic patient. Nephrol Dial Transplant 2003, 18:206-208.
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 206-208
-
-
Piccoli, G.B.1
Mezza, E.2
Jeantet, A.3
Segoloni, G.P.4
-
70
-
-
0035884441
-
Kidney transplantation unraveling Wolfram syndrome: a case report
-
Ben-Dov IZ, Meiner V, Eid A. Kidney transplantation unraveling Wolfram syndrome: a case report. Transplantation 2001, 72:958-960.
-
(2001)
Transplantation
, vol.72
, pp. 958-960
-
-
Ben-Dov, I.Z.1
Meiner, V.2
Eid, A.3
-
71
-
-
0026755751
-
Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging
-
Rando TA, Horton JC, Layzer RB. Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. Neurology 1992, 42:1220-1224.
-
(1992)
Neurology
, vol.42
, pp. 1220-1224
-
-
Rando, T.A.1
Horton, J.C.2
Layzer, R.B.3
-
72
-
-
0029939777
-
Wolframsyndrome: hereditary diabetes mellitus with brainstem and optic atrophy
-
Scolding NJ, Kellar-Wood HF, Shaw C, Shneerson JM, Antoun N. Wolframsyndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol 1996, 39:352-360.
-
(1996)
Ann Neurol
, vol.39
, pp. 352-360
-
-
Scolding, N.J.1
Kellar-Wood, H.F.2
Shaw, C.3
Shneerson, J.M.4
Antoun, N.5
-
73
-
-
33847301900
-
[Wolfram's syndrome presenting as a cerebellar ataxia]
-
Mathis S, Paquis V, Mesnage V. [Wolfram's syndrome presenting as a cerebellar ataxia]. Rev Neurol (Paris) 2007, 163:197-204.
-
(2007)
Rev Neurol (Paris)
, vol.163
, pp. 197-204
-
-
Mathis, S.1
Paquis, V.2
Mesnage, V.3
-
74
-
-
22244462119
-
Wolfram syndrome. How much could knowledge challenge the fate? A case report.
-
Fabbri LP, Nucera M, Grippo A. Wolfram syndrome. How much could knowledge challenge the fate? A case report. Med Sci Monit 2005, 11:CS40-CS44.
-
(2005)
Med Sci Monit
, vol.11
-
-
Fabbri, L.P.1
Nucera, M.2
Grippo, A.3
-
75
-
-
20144381612
-
Imaging characteristics of familial Wolfram syndrome
-
Yang MS, Chen CC, Cheng YY, Tyan YS, Wang YF, Lee SK. Imaging characteristics of familial Wolfram syndrome. J Formos Med Assoc 2005, 104:129-132.
-
(2005)
J Formos Med Assoc
, vol.104
, pp. 129-132
-
-
Yang, M.S.1
Chen, C.C.2
Cheng, Y.Y.3
Tyan, Y.S.4
Wang, Y.F.5
Lee, S.K.6
-
76
-
-
48249095615
-
Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome
-
Luuk H, Koks S, Plaas M, Hannibal J, Rehfeld JF, Vasar E. Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. J Comp Neurol 2008, 509:642-660.
-
(2008)
J Comp Neurol
, vol.509
, pp. 642-660
-
-
Luuk, H.1
Koks, S.2
Plaas, M.3
Hannibal, J.4
Rehfeld, J.F.5
Vasar, E.6
-
77
-
-
0025081836
-
Psychiatric findings in Wolfram syndrome homozygotes
-
Swift RG, Sadler DB, Swift M. Psychiatric findings in Wolfram syndrome homozygotes. Lancet 1990, 336:667-669.
-
(1990)
Lancet
, vol.336
, pp. 667-669
-
-
Swift, R.G.1
Sadler, D.B.2
Swift, M.3
-
78
-
-
33846448738
-
A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour.
-
Aluclu MU, Bahceci M, Tuzcu A, Arikan S, Gokalp D. A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour. Neuro Endocrinol Lett 2006, 27:691-694.
-
(2006)
Neuro Endocrinol Lett
, vol.27
, pp. 691-694
-
-
Aluclu, M.U.1
Bahceci, M.2
Tuzcu, A.3
Arikan, S.4
Gokalp, D.5
-
79
-
-
38349026601
-
[Wolfram syndrome. Clinical and genetic study in two families].
-
Lou FG, Soto de RS, Lopez-Madrazo Hernandez MJ, Macipe CR, Rodriguez RM. [Wolfram syndrome. Clinical and genetic study in two families]. An Pediatr(Barc) 2008, 68:54-57.
-
(2008)
An Pediatr(Barc)
, vol.68
, pp. 54-57
-
-
Lou, F.G.1
Soto de, R.S.2
Lopez-Madrazo Hernandez, M.J.3
Macipe, C.R.4
Rodriguez, R.M.5
-
80
-
-
33845785911
-
[Wolfram syndrome: from definition to molecular bases]
-
Ribeiro MR, Crispim F, Vendramini MF, Moises RS. [Wolfram syndrome: from definition to molecular bases]. Arq Bras Endocrinol Metabol 2006, 50:839-844.
-
(2006)
Arq Bras Endocrinol Metabol
, vol.50
, pp. 839-844
-
-
Ribeiro, M.R.1
Crispim, F.2
Vendramini, M.F.3
Moises, R.S.4
-
81
-
-
0023629362
-
Primary hypogonadism in two siblings with Wolfram syndrome
-
Homan MR, MacKay BR. Primary hypogonadism in two siblings with Wolfram syndrome. Diabetes Care 1987, 10:664-665.
-
(1987)
Diabetes Care
, vol.10
, pp. 664-665
-
-
Homan, M.R.1
MacKay, B.R.2
-
82
-
-
0017125561
-
Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus-a syndrome
-
Gunn T, Bortolussi R, Little JM, Andermann F, Fraser FC, Belmonte MM. Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus-a syndrome. J Pediatr 1976, 89:565-570.
-
(1976)
J Pediatr
, vol.89
, pp. 565-570
-
-
Gunn, T.1
Bortolussi, R.2
Little, J.M.3
Andermann, F.4
Fraser, F.C.5
Belmonte, M.M.6
-
83
-
-
8044224007
-
[The Wolfram syndrome: diabetes mellitus, hypacusis, optic atrophy and short stature in STH deficiency]
-
Hofmann M, Boehmer H, Zumbach M. [The Wolfram syndrome: diabetes mellitus, hypacusis, optic atrophy and short stature in STH deficiency]. Dtsch Med Wochenschr 1997, 122:86-90.
-
(1997)
Dtsch Med Wochenschr
, vol.122
, pp. 86-90
-
-
Hofmann, M.1
Boehmer, H.2
Zumbach, M.3
-
84
-
-
0016212125
-
Diabetes mellitus and optic atrophy with associated findings of diabetes insipidus and neurosensory hearing loss in two siblings
-
Marquardt JL, Loriaux DL. Diabetes mellitus and optic atrophy with associated findings of diabetes insipidus and neurosensory hearing loss in two siblings. Arch Intern Med 1974, 134:32-37.
-
(1974)
Arch Intern Med
, vol.134
, pp. 32-37
-
-
Marquardt, J.L.1
Loriaux, D.L.2
-
86
-
-
0036072103
-
Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan
-
Ajlouni K, Jarrah N, El-Khateeb M, El-Zaheri M, El Shanti H, Lidral A. Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan. Am J Med Genet 2002, 115:61-65.
-
(2002)
Am J Med Genet
, vol.115
, pp. 61-65
-
-
Ajlouni, K.1
Jarrah, N.2
El-Khateeb, M.3
El-Zaheri, M.4
El Shanti, H.5
Lidral, A.6
-
87
-
-
0023373299
-
Wolfram syndrome withlimited joint mobility
-
Seshiah V, Sanjeevi CB, Venkataraman S, Rao KV. Wolfram syndrome withlimited joint mobility. J Assoc Physicians India 1987, 35:528-529.
-
(1987)
J Assoc Physicians India
, vol.35
, pp. 528-529
-
-
Seshiah, V.1
Sanjeevi, C.B.2
Venkataraman, S.3
Rao, K.V.4
-
88
-
-
0025456288
-
A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure
-
Lim MC, Thai AC. A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. Ann Acad Med Singapore 1990, 19:548-555.
-
(1990)
Ann Acad Med Singapore
, vol.19
, pp. 548-555
-
-
Lim, M.C.1
Thai, A.C.2
-
89
-
-
0035089339
-
Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation
-
Al-Sheyyab M, Jarrah N, Younis E. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. Eur J Pediatr 2001, 160:243-246.
-
(2001)
Eur J Pediatr
, vol.160
, pp. 243-246
-
-
Al-Sheyyab, M.1
Jarrah, N.2
Younis, E.3
-
90
-
-
0017645098
-
Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
-
Fraser FC, Gunn T. Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? J Med Genet 1977, 14:190-193.
-
(1977)
J Med Genet
, vol.14
, pp. 190-193
-
-
Fraser, F.C.1
Gunn, T.2
-
91
-
-
7944238045
-
First prenatal diagnosisfor Wolfram syndrome by molecular analysis of the WFS1 gene
-
Domenech E, Kruyer H, Gomez C, Calvo MT, Nunes V. First prenatal diagnosisfor 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
Calvo, M.T.4
Nunes, V.5
-
92
-
-
0026609074
-
Thiamine dependent anemia in DIDMOAD (Wolfram) syndrome: further studies and report of two additional cases
-
Al-Fawaz IM, Al-Herbish AS, Al-Jurayyan NA, Bo-Bakr AM. Thiamine dependent anemia in DIDMOAD (Wolfram) syndrome: further studies and report of two additional cases. Ann Saudi Med 1992, 12:309-312.
-
(1992)
Ann Saudi Med
, vol.12
, pp. 309-312
-
-
Al-Fawaz, I.M.1
Al-Herbish, A.S.2
Al-Jurayyan, N.A.3
Bo-Bakr, A.M.4
-
93
-
-
0024547537
-
Thiamine-responsive anemia in DIDMOAD syndrome
-
Borgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C. Thiamine-responsive anemia in DIDMOAD syndrome. J Pediatr 1989, 114:405-410.
-
(1989)
J Pediatr
, vol.114
, pp. 405-410
-
-
Borgna-Pignatti, C.1
Marradi, P.2
Pinelli, L.3
Monetti, N.4
Patrini, C.5
-
94
-
-
0029151131
-
Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study
-
Soliman AT, Bappal B, Darwish A, Rajab A, Asfour M. Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study. Arch Dis Child 1995, 73:251-253.
-
(1995)
Arch Dis Child
, vol.73
, pp. 251-253
-
-
Soliman, A.T.1
Bappal, B.2
Darwish, A.3
Rajab, A.4
Asfour, M.5
-
95
-
-
0031753978
-
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
-
Ohata T, Koizumi A, Kayo T. Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. Hum Genet 1998, 103:470-474.
-
(1998)
Hum Genet
, vol.103
, pp. 470-474
-
-
Ohata, T.1
Koizumi, A.2
Kayo, T.3
-
96
-
-
0025735036
-
Psychiatric disorders in 36 families with Wolfram syndrome
-
Swift RG, Perkins DO, Chase CL, Sadler DB, Swift M. Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatry 1991, 148:775-779.
-
(1991)
Am J Psychiatry
, vol.148
, pp. 775-779
-
-
Swift, R.G.1
Perkins, D.O.2
Chase, C.L.3
Sadler, D.B.4
Swift, M.5
-
97
-
-
0034673246
-
Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis
-
Awata T, Inoue K, Kurihara S. Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. Biochem Biophys Res Commun 2000, 268:612-616.
-
(2000)
Biochem Biophys Res Commun
, vol.268
, pp. 612-616
-
-
Awata, T.1
Inoue, K.2
Kurihara, S.3
-
98
-
-
0036227462
-
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
-
Minton JA, Hattersley AT, Owen K. 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
-
99
-
-
39049100084
-
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program
-
Florez JC, Jablonski KA, Mc Ateer J. Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. Diabetologia 2008, 51:451-457.
-
(2008)
Diabetologia
, vol.51
, pp. 451-457
-
-
Florez, J.C.1
Jablonski, K.A.2
Mc Ateer, J.3
-
100
-
-
54049110420
-
Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies
-
Herder C, Rathmann W, Strassburger K. Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies. Horm Metab Res 2008, 40:722-726.
-
(2008)
Horm Metab Res
, vol.40
, pp. 722-726
-
-
Herder, C.1
Rathmann, W.2
Strassburger, K.3
-
101
-
-
39049146958
-
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations
-
Franks PW, Rolandsson O, Debenham SL. 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
-
102
-
-
34547536393
-
Common variants in WFS1 confer risk of type 2 diabetes
-
Sandhu MS, Weedon MN, Fawcett KA. 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
-
103
-
-
0035888652
-
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
-
Bespalova IN, Van CG, Bom SJ. 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, C.G.2
Bom, S.J.3
-
104
-
-
0035888617
-
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
-
Young TL, Ives E, Lynch E. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001, 10:2509-2514.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2509-2514
-
-
Young, T.L.1
Ives, E.2
Lynch, E.3
-
105
-
-
34249650293
-
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
-
Fukuoka H, Kanda Y, Ohta S, Usami S. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet 2007, 52:510-515.
-
(2007)
J Hum Genet
, vol.52
, pp. 510-515
-
-
Fukuoka, H.1
Kanda, Y.2
Ohta, S.3
Usami, S.4
-
106
-
-
34250656968
-
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment
-
Tsai HT, Wang YP, Chung SF, Lin HC, Ho GM, Shu MT. A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment. BMC Med Genet 2007, 8:26.
-
(2007)
BMC Med Genet
, vol.8
, pp. 26
-
-
Tsai, H.T.1
Wang, Y.P.2
Chung, S.F.3
Lin, H.C.4
Ho, G.M.5
Shu, M.T.6
-
107
-
-
0036590143
-
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
-
Cryns K, Pfister M, Pennings RJ. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002, 110:389-394.
-
(2002)
Hum Genet
, vol.110
, pp. 389-394
-
-
Cryns, K.1
Pfister, M.2
Pennings, R.J.3
-
108
-
-
23744459381
-
Wolframin mutations and hospitalization for psychiatric illness
-
Swift M, Swift RG. Wolframin mutations and hospitalization for psychiatric illness. Mol Psychiatry 2005, 10:799-803.
-
(2005)
Mol Psychiatry
, vol.10
, pp. 799-803
-
-
Swift, M.1
Swift, R.G.2
-
109
-
-
0031983913
-
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness
-
Swift RG, Polymeropoulos MH, Torres R, Swift M. Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. Mol Psychiatry 1998, 3:86-91.
-
(1998)
Mol Psychiatry
, vol.3
, pp. 86-91
-
-
Swift, R.G.1
Polymeropoulos, M.H.2
Torres, R.3
Swift, M.4
-
110
-
-
20044376749
-
Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders
-
Koido K, Koks S, Nikopensius T. Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders. Int J Neuropsychopharmacol 2005, 8:235-244.
-
(2005)
Int J Neuropsychopharmacol
, vol.8
, pp. 235-244
-
-
Koido, K.1
Koks, S.2
Nikopensius, T.3
-
111
-
-
10744233527
-
Wolfram syndrome and suicide: evidence fora role of WFS1 in suicidal and impulsive behavior
-
Sequeira A, Kim C, Seguin M. Wolfram syndrome and suicide: evidence fora role of WFS1 in suicidal and impulsive behavior. Am J Med Genet B Neuropsychiatr Genet 2003, 119B:108-113.
-
(2003)
Am J Med Genet B Neuropsychiatr Genet
, vol.119 B
, pp. 108-113
-
-
Sequeira, A.1
Kim, C.2
Seguin, M.3
-
112
-
-
0037041306
-
Is there a relationship between Wolfram syndrome carrier status and suicide?
-
Crawford J, Zielinski MA, Fisher LJ, Sutherland GR, Goldney RD. Is there a relationship between Wolfram syndrome carrier status and suicide? Am J Med Genet 2002, 114:343-346.
-
(2002)
Am J Med Genet
, vol.114
, pp. 343-346
-
-
Crawford, J.1
Zielinski, M.A.2
Fisher, L.J.3
Sutherland, G.R.4
Goldney, R.D.5
-
113
-
-
0037336382
-
The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders
-
Martorell L, Zaera MG, Valero J. The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders. Psychiatr Genet 2003, 13:29-32.
-
(2003)
Psychiatr Genet
, vol.13
, pp. 29-32
-
-
Martorell, L.1
Zaera, M.G.2
Valero, J.3
-
114
-
-
0034176621
-
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder
-
Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. J Affect Disord 2000, 58:11-17.
-
(2000)
J Affect Disord
, vol.58
, pp. 11-17
-
-
Ohtsuki, T.1
Ishiguro, H.2
Yoshikawa, T.3
Arinami, T.4
-
115
-
-
0032712022
-
A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases
-
Furlong RA, Ho LW, Rubinsztein JS. A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. Neurosci Lett 1999, 277:123-126.
-
(1999)
Neurosci Lett
, vol.277
, pp. 123-126
-
-
Furlong, R.A.1
Ho, L.W.2
Rubinsztein, J.S.3
-
116
-
-
0037455950
-
No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans
-
Kato T, Iwamoto K, Washizuka S. No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans. Neurosci Lett 2003, 338:21-24.
-
(2003)
Neurosci Lett
, vol.338
, pp. 21-24
-
-
Kato, T.1
Iwamoto, K.2
Washizuka, S.3
-
117
-
-
0034599508
-
Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of the Wolfram gene
-
Middle F, Jones I, Mc Candless F. 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
Mc Candless, F.3
-
118
-
-
24144469381
-
The role of autoimmunity at diagnosis of type 1 diabetes in the development of thyroid and celiac disease and microvascular complications
-
Glastras SJ, Craig ME, Verge CF, Chan AK, Cusumano JM, Donaghue KC. The role of autoimmunity at diagnosis of type 1 diabetes in the development of thyroid and celiac disease and microvascular complications. Diabetes Care 2005, 28:2170-5.
-
(2005)
Diabetes Care
, vol.28
, pp. 2170-2175
-
-
Glastras, S.J.1
Craig, M.E.2
Verge, C.F.3
Chan, A.K.4
Cusumano, J.M.5
Donaghue, K.C.6
-
119
-
-
0028324427
-
Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome
-
Vendrell J, Ercilla G, Faundez A. Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome. Diabetes Res Clin Pract 1994, 22:175-80.
-
(1994)
Diabetes Res Clin Pract
, vol.22
, pp. 175-180
-
-
Vendrell, J.1
Ercilla, G.2
Faundez, A.3
et al4
-
120
-
-
0029616170
-
Insulin treated diabetes mellitus: causes of death determined from record linkage of population based registers in Leicestershire, UK
-
Raymond NT, Langley JD, Goyder E, Botha JL, Burden AC, Hearnshaw JR. Insulin treated diabetes mellitus: causes of death determined from record linkage of population based registers in Leicestershire, UK. J Epidemiol Community Health 1995, 49:570-4.
-
(1995)
J Epidemiol Community Health
, vol.49
, pp. 570-574
-
-
Raymond, N.T.1
Langley, J.D.2
Goyder, E.3
Botha, J.L.4
Burden, A.C.5
Hearnshaw, J.R.6
-
121
-
-
76649090624
-
-
Philadelphia, Elsevier, c, p. (Kliegman RM, Brehman RE, Jenson HB, Stanton BF, editors. Nelson textbook of Pediatrics 18th Edition; Chapter 590)
-
Alemzadeh R, Wyatt DT. Diabetes mellitus in children 2007, 2404-27. Philadelphia, Elsevier, c, p. (Kliegman RM, Brehman RE, Jenson HB, Stanton BF, editors. Nelson textbook of Pediatrics 18th Edition; Chapter 590)
-
(2007)
Diabetes mellitus in children
, pp. 2404-2427
-
-
Alemzadeh, R.1
Wyatt, D.T.2
-
122
-
-
33745231631
-
A novel mutation of WFS1 gene in a Japenese man of Wolfram syndrome with positive diabetes-related antibodies
-
Nakamura A, Shimizu C, Nagai S. A novel mutation of WFS1 gene in a Japenese man of Wolfram syndrome with positive diabetes-related antibodies. Diabetes Res Clin Pract 2006, 73:215-7.
-
(2006)
Diabetes Res Clin Pract
, vol.73
, pp. 215-217
-
-
Nakamura, A.1
Shimizu, C.2
Nagai, S.3
et al4
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