-
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 CH, Hallgren B, Nilsson LB, Åsander A. 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. 1959;34(1)(suppl 129):1-35.
-
(1959)
Acta Psychiatr Neurol Scand
, vol.34
, Issue.1 SUPPL. 129
, pp. 1-35
-
-
Alström, C.H.1
Hallgren, B.2
Nilsson, L.B.3
Åsander, A.4
-
2
-
-
0030615157
-
Homozygosity mapping of Alström syndrome to chromosome 2p
-
Collin GB, Marshall JD, Cardon LR, Nishina PM. Homozygosity mapping of Alström syndrome to chromosome 2p. Hum Mol Genet. 1997;6(2):213-219.
-
(1997)
Hum Mol Genet
, vol.6
, Issue.2
, pp. 213-219
-
-
Collin, G.B.1
Marshall, J.D.2
Cardon, L.R.3
Nishina, P.M.4
-
3
-
-
0032406253
-
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family
-
Macari F, Lautier C, Girardet A, et al. Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family. Hum Genet. 1998;103(6):658-661.
-
(1998)
Hum Genet
, vol.103
, Issue.6
, pp. 658-661
-
-
Macari, F.1
Lautier, C.2
Girardet, A.3
-
4
-
-
0032585994
-
Alström syndrome: Further evidence for linkage to human chromosome 2p13
-
Collin GB, Marshall JD, Boerkoel CF, et al. Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet. 1999;105(5):474-479.
-
(1999)
Hum Genet
, vol.105
, Issue.5
, pp. 474-479
-
-
Collin, G.B.1
Marshall, J.D.2
Boerkoel, C.F.3
-
5
-
-
0036578890
-
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
-
Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet. 2002;31(1):74-78.
-
(2002)
Nat Genet
, vol.31
, Issue.1
, pp. 74-78
-
-
Collin, G.B.1
Marshall, J.D.2
Ikeda, A.3
-
6
-
-
18544391142
-
Mutation of ALMS1, a large gene with tandem repeat encoding 47 amino acids, causes Alström syndrome
-
Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet. 2002;31(1):79-83.
-
(2002)
Nat Genet
, vol.31
, Issue.1
, pp. 79-83
-
-
Hearn, T.1
Renforth, G.L.2
Spalluto, C.3
-
7
-
-
1242273623
-
Alström syndrome: Intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
-
Titomanlio L, De Brasi D, Buoninconti A, et al. Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. Clin Genet. 2004;65(2):156-157.
-
(2004)
Clin Genet
, vol.65
, Issue.2
, pp. 156-157
-
-
Titomanlio, L.1
De Brasi, D.2
Buoninconti, A.3
-
8
-
-
35648990040
-
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndorme
-
Marshall JD, Hinman EG, Collin GB, et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndorme. Hum Mutat. 2007;28(11):1114-1123.
-
(2007)
Hum Mutat
, vol.28
, Issue.11
, pp. 1114-1123
-
-
Marshall, J.D.1
Hinman, E.G.2
Collin, G.B.3
-
9
-
-
20144362826
-
New Alström syndrome phenotypes based on the evaluation of 182 cases
-
Marshall JD, Bronson RT, Collin GB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005;165(6):675-683.
-
(2005)
Arch Intern Med
, vol.165
, Issue.6
, pp. 675-683
-
-
Marshall, J.D.1
Bronson, R.T.2
Collin, G.B.3
-
10
-
-
0015535502
-
The Alström syndrome: Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder
-
Goldstein JL, Fialkow PJ. The Alström syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore). 1973;52(1):53-71.
-
(1973)
Medicine (Baltimore)
, vol.52
, Issue.1
, pp. 53-71
-
-
Goldstein, J.L.1
Fialkow, P.J.2
-
11
-
-
0030732665
-
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families
-
Marshall JD, Ludman MD, Shea SE, et al. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am J Med Genet. 1997;73(2):150-161.
-
(1997)
Am J Med Genet
, vol.73
, Issue.2
, pp. 150-161
-
-
Marshall, J.D.1
Ludman, M.D.2
Shea, S.E.3
-
12
-
-
0036935109
-
Three new cases of Alström syndrome
-
Benso C, Hadjadj E, Conrath J, Denis D. Three new cases of Alström syndrome. Graefes Arch Clin Exp Ophthalmol. 2002;240(8):622-627.
-
(2002)
Graefes Arch Clin Exp Ophthalmol
, vol.240
, Issue.8
, pp. 622-627
-
-
Benso, C.1
Hadjadj, E.2
Conrath, J.3
Denis, D.4
-
13
-
-
0036825208
-
The Alström syndrome: Is it a rare or unknown disease?
-
Maffei P, Munno V, Marshall JD, Scandellari C, Sicolo N. The Alström syndrome: is it a rare or unknown disease? Ann Ital Med Int. 2002;17(4):221-228.
-
(2002)
Ann Ital Med Int
, vol.17
, Issue.4
, pp. 221-228
-
-
Maffei, P.1
Munno, V.2
Marshall, J.D.3
Scandellari, C.4
Sicolo, N.5
-
14
-
-
15344350986
-
-
Accessed January 26
-
Hopkinson I, Marshall JD, Paisey RB, Carey C, MacDermott S. Alström syndrome. http://www.genetests.org. Accessed January 26, 2005.
-
(2005)
Alström syndrome
-
-
Hopkinson, I.1
Marshall, J.D.2
Paisey, R.B.3
Carey, C.4
MacDermott, S.5
-
15
-
-
0022973179
-
Ophthalmologic and systemic manifestations of Alström's disease
-
Millay RH, Weleber RG, Heckenlively JR. Ophthalmologic and systemic manifestations of Alström's disease. Am J Ophthalmol. 1986;102(4):482-490.
-
(1986)
Am J Ophthalmol
, vol.102
, Issue.4
, pp. 482-490
-
-
Millay, R.H.1
Weleber, R.G.2
Heckenlively, J.R.3
-
16
-
-
0027469341
-
Growth hormone deficiency in two siblings with Alström syndrome
-
Alter CA, Moshang T. Growth hormone deficiency in two siblings with Alström syndrome. Am J Dis Child. 1993;147(1):97-99.
-
(1993)
Am J Dis Child
, vol.147
, Issue.1
, pp. 97-99
-
-
Alter, C.A.1
Moshang, T.2
-
17
-
-
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 VJ, 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. 2005;54(5):1581-1587.
-
(2005)
Diabetes
, vol.54
, Issue.5
, pp. 1581-1587
-
-
Hearn, T.1
Spalluto, C.2
Phillips, V.J.3
-
18
-
-
33846507060
-
A role for Alström syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence
-
doi:10.1371/journal.pgen.0030008
-
Li G, Vega R, Nelms K, et al. A role for Alström syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007;3(1):e8. doi:10.1371/journal.pgen.0030008.
-
(2007)
PLoS Genet
, vol.3
, Issue.1
-
-
Li, G.1
Vega, R.2
Nelms, K.3
-
19
-
-
33748769378
-
The ciliopathies: An emerging class of human genetic disorders
-
Badano JL, Mitsuma N, Beales P, Katsanas N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006;22(7):125-148.
-
(2006)
Annu Rev Genomics Hum Genet
, vol.22
, Issue.7
, pp. 125-148
-
-
Badano, J.L.1
Mitsuma, N.2
Beales, P.3
Katsanas, N.4
-
20
-
-
0021647930
-
The Alström syndrome: Ophthalmic histopathology and retinal ultrastructure
-
Sebag J, Albert DM, Craft JL. The Alström syndrome: ophthalmic histopathology and retinal ultrastructure. Br J Ophthalmol. 1984;68(7):494-501.
-
(1984)
Br J Ophthalmol
, vol.68
, Issue.7
, pp. 494-501
-
-
Sebag, J.1
Albert, D.M.2
Craft, J.L.3
-
21
-
-
0027232213
-
Longitudinal study of the early electroretinographic changes in Alström syndrome
-
Tremblay F, LaRoche RG, Shea SE, et al. Longitudinal study of the early electroretinographic changes in Alström syndrome. Am J Ophthalmol. 1993;115(5):657-665.
-
(1993)
Am J Ophthalmol
, vol.115
, Issue.5
, pp. 657-665
-
-
Tremblay, F.1
LaRoche, R.G.2
Shea, S.E.3
-
22
-
-
0031596498
-
Alström syndrome: Report of 22 cases and literature review
-
Russell-Eggitt IM, Clayton PT, Coffey R, et al. Alström syndrome: report of 22 cases and literature review. Ophthalmology. 1998;105(7):1274-1280.
-
(1998)
Ophthalmology
, vol.105
, Issue.7
, pp. 1274-1280
-
-
Russell-Eggitt, I.M.1
Clayton, P.T.2
Coffey, R.3
-
23
-
-
0035232918
-
Ophthalmological and systemic features of the Alström syndrome: Report of 9 cases
-
Van den Abeele K, Craen M, Schuil J, Meire FM. Ophthalmological and systemic features of the Alström syndrome: report of 9 cases. Bull Soc Belge Ophtalmol. 2001;281(281):67-72.
-
(2001)
Bull Soc Belge Ophtalmol
, vol.281
, Issue.281
, pp. 67-72
-
-
Van den Abeele, K.1
Craen, M.2
Schuil, J.3
Meire, F.M.4
-
24
-
-
1642409257
-
Onset of bilateral blindness in the first year of life: Alström syndrome [in German]
-
Sadowski B, Baumeister FAM, Schmitz T, Rudolph G. Onset of bilateral blindness in the first year of life: Alström syndrome [in German]. Ophthalmologe. 2004;101(3):298-300.
-
(2004)
Ophthalmologe
, vol.101
, Issue.3
, pp. 298-300
-
-
Sadowski, B.1
Baumeister, F.A.M.2
Schmitz, T.3
Rudolph, G.4
-
25
-
-
0027369506
-
Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia
-
Andréasson S, Tornqvist K, Ehinger B. Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia. Acta Ophthalmol (Copenh). 1993;71(4):491-495.
-
(1993)
Acta Ophthalmol (Copenh)
, vol.71
, Issue.4
, pp. 491-495
-
-
Andréasson, S.1
Tornqvist, K.2
Ehinger, B.3
-
26
-
-
0033652880
-
Standard for pattern electroretinography: International Society for Clinical Electrophysiology of Vision
-
Bach M, Hawlina M, Holder GE, Marmor MF, Meigen T, Vaegan T, Miyake Y. Standard for pattern electroretinography: International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol. 2000;101(1):11-18.
-
(2000)
Doc Ophthalmol
, vol.101
, Issue.1
, pp. 11-18
-
-
Bach, M.1
Hawlina, M.2
Holder, G.E.3
Marmor, M.F.4
Meigen, T.5
Vaegan, T.6
Miyake, Y.7
-
27
-
-
0023879597
-
Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa
-
Andréasson SO, Sandberg MA, Berson EL. Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa. Am J Ophthalmol. 1988;105(5):500-503.
-
(1988)
Am J Ophthalmol
, vol.105
, Issue.5
, pp. 500-503
-
-
Andréasson, S.O.1
Sandberg, M.A.2
Berson, E.L.3
-
28
-
-
26444443136
-
Alms1-disrupted mice recapitulate human Alström syndrome
-
Collin GB, Cyr E, Bronson R, et al. Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet. 2005;14(16):2323-2333.
-
(2005)
Hum Mol Genet
, vol.14
, Issue.16
, pp. 2323-2333
-
-
Collin, G.B.1
Cyr, E.2
Bronson, R.3
-
29
-
-
12344280017
-
Summaries of Affymetrix GeneChip probe level data
-
doi:10.1093/nar/gng015
-
Irizarry RA, Bolstad BM, Collin F, Cope LM, Hobbs B, Speed TP. Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res. 2003;31(4):e15. doi:10.1093/nar/gng015.
-
(2003)
Nucleic Acids Res
, vol.31
, Issue.4
-
-
Irizarry, R.A.1
Bolstad, B.M.2
Collin, F.3
Cope, L.M.4
Hobbs, B.5
Speed, T.P.6
-
30
-
-
0028168330
-
-
Dyer DS, Wilson ME, Small KW, Shashidhar Pai G. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus. 1994;31(4):272-274.
-
Dyer DS, Wilson ME, Small KW, Shashidhar Pai G. Alström syndrome: a case misdiagnosed as Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus. 1994;31(4):272-274.
-
-
-
-
31
-
-
0024472754
-
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
-
Green JS, Parfrey PS, Harnett JD, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med. 1989;321(15):1002-1009.
-
(1989)
N Engl J Med
, vol.321
, Issue.15
, pp. 1002-1009
-
-
Green, J.S.1
Parfrey, P.S.2
Harnett, J.D.3
-
32
-
-
0033062278
-
New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
-
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36(6):437-446.
-
(1999)
J Med Genet
, vol.36
, Issue.6
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
33
-
-
0030905177
-
Intrafamilial variation of the phenotype in Bardet-Biedl syndrome
-
Riise R, Andreasson S, Borgastrom MK, et al. Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol. 1997;81(5):378-385.
-
(1997)
Br J Ophthalmol
, vol.81
, Issue.5
, pp. 378-385
-
-
Riise, R.1
Andreasson, S.2
Borgastrom, M.K.3
-
34
-
-
0030482582
-
Full-field electroretinograms in individuals with the Laurence-Moon-Bardet-Biedl syndrome
-
Riise R, Andreasson S, Tornqvist K. Full-field electroretinograms in individuals with the Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand. 1996;74(6):618-620.
-
(1996)
Acta Ophthalmol Scand
, vol.74
, Issue.6
, pp. 618-620
-
-
Riise, R.1
Andreasson, S.2
Tornqvist, K.3
-
35
-
-
0031127101
-
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21
-
Bruford EA, Riise R, Teague PW, et al. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics. 1997;41(1):93-99.
-
(1997)
Genomics
, vol.41
, Issue.1
, pp. 93-99
-
-
Bruford, E.A.1
Riise, R.2
Teague, P.W.3
-
36
-
-
0037322689
-
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
-
Mykytyn K, Nishimura DY, Searby CC, et al. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003;72(2):429-437.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.2
, pp. 429-437
-
-
Mykytyn, K.1
Nishimura, D.Y.2
Searby, C.C.3
|