-
1
-
-
70449232246
-
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree
-
Alström C.H., Hallgren B., Nilsson L.B., and Åsander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 129 (1959) 1-35
-
(1959)
Acta Psychiatr Neurol Scand Suppl
, vol.129
, pp. 1-35
-
-
Alström, C.H.1
Hallgren, B.2
Nilsson, L.B.3
Åsander, H.4
-
2
-
-
33747724012
-
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome
-
Minton J.A., Owen K.R., Ricketts C.J., Crabtree N., Shaikh G., Ehtisham S., et al. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alström syndrome. J Clin Endocrinol Metab 91 (2006) 3110-3116
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3110-3116
-
-
Minton, J.A.1
Owen, K.R.2
Ricketts, C.J.3
Crabtree, N.4
Shaikh, G.5
Ehtisham, S.6
-
3
-
-
26444607754
-
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy
-
Bond J., Flintoff K., Higgins J., Scott S., Bennet C., Parsons J., et al. The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy. J Med Genet 42 (2005) e10
-
(2005)
J Med Genet
, vol.42
-
-
Bond, J.1
Flintoff, K.2
Higgins, J.3
Scott, S.4
Bennet, C.5
Parsons, J.6
-
4
-
-
0030732665
-
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families
-
Marshall J.D., Ludman M.D., Shea S.E., Salisbury S.R., Willi S.M., LaRoche R.G., et al. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am J Med Genet 73 (1997) 150-161
-
(1997)
Am J Med Genet
, vol.73
, pp. 150-161
-
-
Marshall, J.D.1
Ludman, M.D.2
Shea, S.E.3
Salisbury, S.R.4
Willi, S.M.5
LaRoche, R.G.6
-
5
-
-
20144362826
-
New Alström syndrome phenotypes based on the evaluation of 182 cases
-
Marshall J.D., Bronson R.T., Collin G.B., Nordstrom A.D., Maffei P., Paisey R.B., et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 165 (2005) 675-683
-
(2005)
Arch Intern Med
, vol.165
, pp. 675-683
-
-
Marshall, J.D.1
Bronson, R.T.2
Collin, G.B.3
Nordstrom, A.D.4
Maffei, P.5
Paisey, R.B.6
-
6
-
-
0021993424
-
Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor
-
Rüdiger H.W., Ahrens P., Dreyer M., Frorath B., Löffel C., and Schmidt-Preuss U. Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. Hum Genet 69 (1985) 76-78
-
(1985)
Hum Genet
, vol.69
, pp. 76-78
-
-
Rüdiger, H.W.1
Ahrens, P.2
Dreyer, M.3
Frorath, B.4
Löffel, C.5
Schmidt-Preuss, U.6
-
8
-
-
0032213761
-
Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome
-
Collin G.B., Nishina P.M., Marshall J.D., and Naggert J.K. Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome. Genomics 53 (1998) 359-364
-
(1998)
Genomics
, vol.53
, pp. 359-364
-
-
Collin, G.B.1
Nishina, P.M.2
Marshall, J.D.3
Naggert, J.K.4
-
9
-
-
0032585994
-
Alström syndrome: further evidence for linkage to human chromosome 2p13
-
Collin G.B., Marshall J.D., Boerkoel C.F., Levin A.V., Weksberg R., Greenberg J., et al. Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet 105 (1999) 474-479
-
(1999)
Hum Genet
, vol.105
, pp. 474-479
-
-
Collin, G.B.1
Marshall, J.D.2
Boerkoel, C.F.3
Levin, A.V.4
Weksberg, R.5
Greenberg, J.6
-
10
-
-
18544391142
-
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome
-
Hearn T., Renforth G.L., Spalluto C., Hanley N.A., Piper K., Brickwood S., et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 31 (2002) 79-83
-
(2002)
Nat Genet
, vol.31
, pp. 79-83
-
-
Hearn, T.1
Renforth, G.L.2
Spalluto, C.3
Hanley, N.A.4
Piper, K.5
Brickwood, S.6
-
11
-
-
0036578890
-
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
-
Collin G.B., Marshall J.D., Ikeda A., So W.V., Russell-Eggitt I., Maffei P., et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 31 (2002) 74-78
-
(2002)
Nat Genet
, vol.31
, pp. 74-78
-
-
Collin, G.B.1
Marshall, J.D.2
Ikeda, A.3
So, W.V.4
Russell-Eggitt, I.5
Maffei, P.6
-
12
-
-
17844367633
-
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes
-
Hearn T., Spalluto C., Phillips V.J., Renforth G.L., Copin N., Hanley N.A., et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes 54 (2005) 1581-1587
-
(2005)
Diabetes
, vol.54
, pp. 1581-1587
-
-
Hearn, T.1
Spalluto, C.2
Phillips, V.J.3
Renforth, G.L.4
Copin, N.5
Hanley, N.A.6
-
13
-
-
26444443136
-
Alms1-disrupted mice recapitulate human Alström syndrome
-
Collin G.B., Cyr E., Bronson R., Marshall J.D., Gifford E.J., Hicks W., et al. Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet 14 (2005) 2323-2333
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2323-2333
-
-
Collin, G.B.1
Cyr, E.2
Bronson, R.3
Marshall, J.D.4
Gifford, E.J.5
Hicks, W.6
-
14
-
-
35648990040
-
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome
-
Marshall J.D., Hinman E.G., Collin G.B., Beck S., Cerqueira R., Maffei P., et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat 28 (2007) 1114-1123
-
(2007)
Hum Mutat
, vol.28
, pp. 1114-1123
-
-
Marshall, J.D.1
Hinman, E.G.2
Collin, G.B.3
Beck, S.4
Cerqueira, R.5
Maffei, P.6
-
15
-
-
38849187135
-
Sídrome de Alström Hallgren
-
Puertas-Bordallo D., De-Domingo-Barón B., Lozano-Vázquez M., Escudero-Díaz C., Ruiz-Falcó Rojas M.L., and Fernández-Fernández J. Sídrome de Alström Hallgren. Arch Soc Esp Oftalmol 82 (2007) 649-652
-
(2007)
Arch Soc Esp Oftalmol
, vol.82
, pp. 649-652
-
-
Puertas-Bordallo, D.1
De-Domingo-Barón, B.2
Lozano-Vázquez, M.3
Escudero-Díaz, C.4
Ruiz-Falcó Rojas, M.L.5
Fernández-Fernández, J.6
-
16
-
-
20844457764
-
Medicina preventiva y fracaso clamoroso de la salud pública: llegamos mal porque llegamos tarde
-
Martínez-González M., and De Irala J. Medicina preventiva y fracaso clamoroso de la salud pública: llegamos mal porque llegamos tarde. Med Clin (Barc) 124 (2005) 656-660
-
(2005)
Med Clin (Barc)
, vol.124
, pp. 656-660
-
-
Martínez-González, M.1
De Irala, J.2
-
17
-
-
0024472754
-
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
-
Green J.S., Parfrey P.S., Harnett J.D., Farid N.R., Cramer B.C., Johnson G., et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321 (1989) 1002-1009
-
(1989)
N Engl J Med
, vol.321
, pp. 1002-1009
-
-
Green, J.S.1
Parfrey, P.S.2
Harnett, J.D.3
Farid, N.R.4
Cramer, B.C.5
Johnson, G.6
-
18
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder
-
Katsanis N., Ansley S.J., Badano J.L., Eichers E.R., Lewis R.A., Hoskins B.E., et al. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science 293 (2001) 2256-2259
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Ansley, S.J.2
Badano, J.L.3
Eichers, E.R.4
Lewis, R.A.5
Hoskins, B.E.6
-
19
-
-
1842353216
-
Analysis of human Y-chromosomespecific reiterated DNA in chromosome variants
-
Kunkel L.M., Smith K.D., Boyer S.H., Borgaonkar D.S., Wachtel S.S., Miller O.J., et al. Analysis of human Y-chromosomespecific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A 74 (1997) 1245-1249
-
(1997)
Proc Natl Acad Sci U S A
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
Borgaonkar, D.S.4
Wachtel, S.S.5
Miller, O.J.6
-
20
-
-
0142104970
-
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
-
Ansley S.J., Badano J.L., Blacque O.E., Hill J., Hoskins B.E., Leitch C.C., et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 425 (2003) 628-633
-
(2003)
Nature
, vol.425
, pp. 628-633
-
-
Ansley, S.J.1
Badano, J.L.2
Blacque, O.E.3
Hill, J.4
Hoskins, B.E.5
Leitch, C.C.6
|