-
1
-
-
70449232246
-
Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A speci fic 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, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a speci fic 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. 1959;129:1-35
-
(1959)
Acta Psychiatr Neurol Scand, Suppl
, vol.129
, pp. 1-35
-
-
Alström, C.H.1
Hallgren, B.2
Nilsson, L.B.3
Asander, H.4
-
2
-
-
0029664835
-
Natural history of Alstrom syndrome in early childhood: Onset with dilated cardiomyopathy
-
DOI 10.1016/S0022-3476(96)70394-3
-
Michaud JL, Héon E, Guilbert F, et al. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996;128(2):225-229 (Pubitemid 26066865)
-
(1996)
Journal of Pediatrics
, vol.128
, Issue.2
, pp. 225-229
-
-
Michaud, J.L.1
Heon, E.2
Guilbert, F.3
Weill, J.4
Puech, B.5
Benson, L.6
Smallhorn, J.F.7
Shuman, C.T.8
Buncic, J.R.9
Levin, A.V.10
Weksberg, R.11
Breviere, G.-M.12
-
3
-
-
15344350986
-
Alstrom syndrome
-
Pagon RA, Adam MP, Bird TD, et al, eds. Seattle, WA
-
Marshall JD, Paisey RB, Carey C, et al. Alstrom syndrome. In: Pagon RA, Adam MP, Bird TD, et al, eds. GeneReviews. Seattle, WA: 1993
-
(1993)
GeneReviews
-
-
Marshall, J.D.1
Paisey, R.B.2
Carey, C.3
-
4
-
-
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
-
5
-
-
36349032239
-
Alström syndrome
-
Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15(12):1193-1202
-
(2007)
Eur J Hum Genet
, vol.15
, Issue.12
, pp. 1193-1202
-
-
Marshall, J.D.1
Beck, S.2
Maffei, P.3
Naggert, J.K.4
-
6
-
-
1042265048
-
Hypertriglyceridaemia in Alström's syndrome: Causes and associations in 37 cases
-
DOI 10.1111/j.1365-2265.2004.01952.x
-
Paisey RB, Carey CM, Bower L, et al. Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases. Clin Endocrinol (Oxf). 2004;60(2):228-231 (Pubitemid 38200905)
-
(2004)
Clinical Endocrinology
, vol.60
, Issue.2
, pp. 228-231
-
-
Paisey, R.B.1
Carey, C.M.2
Bower, L.3
Marshall, J.4
Taylor, P.5
Maffei, P.6
Mansell, P.7
-
7
-
-
35648990040
-
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome
-
DOI 10.1002/humu.20577
-
Marshall JD, Hinman EG, Collin GB, et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat. 2007;28(11):1114-1123 (Pubitemid 350036916)
-
(2007)
Human Mutation
, vol.28
, Issue.11
, pp. 1114-1123
-
-
Marshall, J.D.1
Hinman, E.G.2
Collin, G.B.3
Beck, S.4
Cerqueira, R.5
Maffei, P.6
Milan, G.7
Zhang, W.8
Wilson, D.I.9
Hearn, T.10
Tavares, P.11
Vettor, R.12
Veronese, C.13
Martin, M.14
So, W.V.15
Nishina, P.M.16
Naggert, J.K.17
-
8
-
-
20144362826
-
New Alström syndrome phenotypes based on the evaluation of 182 cases
-
DOI 10.1001/archinte.165.6.675
-
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 (Pubitemid 40393151)
-
(2005)
Archives of Internal Medicine
, vol.165
, Issue.6
, 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
Carey, C.7
MacDermott, S.8
Russell-Eggitt, I.9
Shea, S.E.10
Davis, J.11
Beck, S.12
Shatirishvili, G.13
Mihai, C.M.14
Hoeltzenbein, M.15
Pozzan, G.B.16
Hopkinson, I.17
Sicolo, N.18
Naggert, J.K.19
Nishina, P.M.20
more..
-
9
-
-
80053050304
-
Clinical utility gene card for: Alstrom syndrome - Update 2013
-
doi:10.1038/ejhg.2011.72
-
Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Clinical utility gene card for: Alstrom syndrome - update 2013. European Journal of Human Genetics. 2011;19:1108. doi:10.1038/ejhg.2011.72
-
(2011)
European Journal of Human Genetics
, vol.19
, pp. 1108
-
-
Marshall, J.D.1
Maffei, P.2
Beck, S.3
Barrett, T.G.4
Paisey, R.5
Naggert, J.K.6
-
10
-
-
68749097262
-
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
-
Leigh MW, Pittman JE, Carson JL, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009;11(7):473-487
-
(2009)
Genet Med
, vol.11
, Issue.7
, pp. 473-487
-
-
Leigh, M.W.1
Pittman, J.E.2
Carson, J.L.3
-
12
-
-
0033971052
-
Saccharin test of maxillary sinus mucociliary function after endoscopic sinus surgery
-
Asai K, Haruna S, Otori N, Yanagi K, Fukami M, Moriyama H. Saccharin test of maxillary sinus mucociliary function after endoscopic sinus surgery. Laryngoscope. 2000;110(1):117-122 (Pubitemid 30046656)
-
(2000)
Laryngoscope
, vol.110
, Issue.1
, pp. 117-122
-
-
Asai, K.1
Haruna, S.-I.2
Otori, N.3
Yanagi, K.4
Fukami, M.5
Moriyama, H.6
-
13
-
-
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
-
14
-
-
0041833400
-
Alström-syndrome: A missed diagnosis with consequences
-
in German
-
Baumeister FA, Sadowski B, Schmitz T, Grübl A. Alström- syndrome: a missed diagnosis with consequences [in German]. Klin Padiatr. 2003;215(4):226-227
-
(2003)
Klin Padiatr
, vol.215
, Issue.4
, pp. 226-227
-
-
Baumeister, F.A.1
Sadowski, B.2
Schmitz, T.3
Grübl, A.4
|