-
2
-
-
85184356326
-
Bardet-Biedl syndrome [internet]
-
cited December. Available from
-
Ross AJ, Beales PL. Bardet-Biedl syndrome [internet]. GeneReviews [cited 2008 December. Available from http://www.geneclinics.org/profiles/all.html.
-
(2008)
GeneReviews
-
-
Ross, A.J.1
Beales, P.L.2
-
3
-
-
0024472754
-
The cardinal manifestations of Bardet-Biedl syndrome: A form of Laurence-Moon-Biedl syndrome
-
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome: A form of Laurence-Moon-Biedl syndrome. N Eng J Med 1989;321:1002-1009
-
(1989)
N Eng 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
-
4
-
-
0029936390
-
The importance of renal impairment in the natural history of Bardet-Biedl syndrome
-
O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green J. The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis 1996;27:776-783
-
(1996)
Am J Kidney Dis
, vol.27
, pp. 776-783
-
-
O'Dea, D.1
Parfrey, P.S.2
Harnett, J.D.3
Hefferton, D.4
Cramer, B.C.5
Green, J.6
-
5
-
-
58049128510
-
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family
-
Yang Z, Yang Y, Zhao P, Chen K, Chen B, Lin Y, et al. A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. Mol Vis 2008;14:2304-2308
-
(2008)
Mol Vis
, vol.14
, pp. 2304-2308
-
-
Yang, Z.1
Yang, Y.2
Zhao, P.3
Chen, K.4
Chen, B.5
Lin, Y.6
-
6
-
-
31744435454
-
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
-
Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 2006;38:155-157
-
(2006)
Nat Genet
, vol.38
, pp. 155-157
-
-
Kyttälä, M.1
Tallila, J.2
Salonen, R.3
Kopra, O.4
Kohlschmidt, N.5
Paavola-Sakki, P.6
-
7
-
-
41349103272
-
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
-
Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008;40:443-448
-
(2008)
Nat Genet
, vol.40
, pp. 443-448
-
-
Leitch, C.C.1
Zaghloul, N.A.2
Davis, E.E.3
Stoetzel, C.4
Diaz-Font, A.5
Rix, S.6
-
8
-
-
40749124464
-
Alstrom syndrome (OMIM 203800): A case report and literature review
-
Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, et al. Alstrom syndrome (OMIM 203800): A case report and literature review. Orphanet J Rare Dis 2007;2:49.
-
(2007)
Orphanet J Rare Dis
, vol.2
, pp. 49
-
-
Joy, T.1
Cao, H.2
Black, G.3
Malik, R.4
Charlton-Menys, V.5
Hegele, R.A.6
-
9
-
-
33846507060
-
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence
-
Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, et al. A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 2007;3:e8.
-
(2007)
PLoS Genet
, vol.3
-
-
Li, G.1
Vega, R.2
Nelms, K.3
Gekakis, N.4
Goodnow, C.5
McNamara, P.6
-
11
-
-
20144362826
-
New Alström syndrome phenotypes based on the evaluation of 182 cases
-
Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, et al. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005;165:675-683
-
(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
-
12
-
-
43549083019
-
Body fat distribution, serum glucose, lipid and insulin response to meals in Alström syndrome
-
Paisey RB, Hodge D, Williams K. Body fat distribution, serum glucose, lipid and insulin response to meals in Alström syndrome. J Hum Nutr Diet 2008;21:268-274
-
(2008)
J Hum Nutr Diet
, vol.21
, pp. 268-274
-
-
Paisey, R.B.1
Hodge, D.2
Williams, K.3
-
13
-
-
35648940831
-
Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome
-
Sinha SK, Bhangoo A, Anhalt H, Maclaren N, Marshall JD, Collin GB, et al. Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome. J Pediatr Endocrinol Metab 2007;20:1045-1052
-
(2007)
J Pediatr Endocrinol Metab
, vol.20
, pp. 1045-1052
-
-
Sinha, S.K.1
Bhangoo, A.2
Anhalt, H.3
MacLaren, N.4
Marshall, J.D.5
Collin, G.B.6
-
14
-
-
0031596498
-
Alström syndrome: Report of 22 cases and literature review
-
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF. Alström syndrome: Report of 22 cases and literature review. Ophthalmology 1998;105:1274-1280
-
(1998)
Ophthalmology
, vol.105
, pp. 1274-1280
-
-
Russell-Eggitt, I.M.1
Clayton, P.T.2
Coffey, R.3
Kriss, A.4
Taylor, D.S.5
Taylor, J.F.6
-
15
-
-
33847716347
-
The clinical diagnosis and molecular genetics of Kearns-sayre syndrome: A complex mitochondrial encephalomyopathy
-
Maceluch JA, Niedziela M. The clinical diagnosis and molecular genetics of Kearns-sayre syndrome: a complex mitochondrial encephalomyopathy. Pedriatr Endocrinol Rev 2007;4:117-137
-
(2007)
Pedriatr Endocrinol Rev
, vol.4
, pp. 117-137
-
-
MacEluch, J.A.1
Niedziela, M.2
-
16
-
-
0026773036
-
Endocrine dysfunction in Kearns-Sayre syndrome
-
Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 1992;37:97-103.
-
(1992)
Clin Endocrinol
, vol.37
, pp. 97-103
-
-
Harvey, J.N.1
Barnett, D.2
-
17
-
-
0029796530
-
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion
-
Isotani H, Fukumoto Y, Kawamura H, Furukawa K, Ohsawa N, Goto Y, et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol 1996;45:637-641
-
(1996)
Clin Endocrinol
, vol.45
, pp. 637-641
-
-
Isotani, H.1
Fukumoto, Y.2
Kawamura, H.3
Furukawa, K.4
Ohsawa, N.5
Goto, Y.6
-
18
-
-
0021034957
-
Near-fatal Kearns-Sayre syndrome: A case report and review of clinical manifestations
-
Rheuban KS, Ayres NA, Sellers TD, DiMarco JP. Near-fatal Kearns-Sayre syndrome: A case report and review of clinical manifestations. Clin Pediatr 1983;22:822-825
-
(1983)
Clin Pediatr
, vol.22
, pp. 822-825
-
-
Rheuban, K.S.1
Ayres, N.A.2
Sellers, T.D.3
Dimarco, J.P.4
-
19
-
-
56149097205
-
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): Clinical and genetic study
-
d'Annunzio G, Minuto N, D'Amato E, de Toni T, Lombardo F, Pasquali L, 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
De Toni, T.4
Lombardo, F.5
Pasquali, L.6
-
20
-
-
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
-
21
-
-
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
-
23
-
-
0035086992
-
The absence of diabetic retinopathy in patients with retinitis pigmentosa: Implications for pathophysiology and possible treatment
-
Arden GB. The absence of diabetic retinopathy in patients with retinitis pigmentosa: Implications for pathophysiology and possible treatment. Br J Ophthalmol 2001;85:366-370
-
(2001)
Br J Ophthalmol
, vol.85
, pp. 366-370
-
-
Arden, G.B.1
-
24
-
-
64749106352
-
Protection from clinical peripheral sensory neuropathy in Alstrom syndrome in contrast to early onset type2 diabetes
-
Paisey RB, Paisey RM, Thomson MP, Bower L, Maffei P, Shield JP, et al. Protection from clinical peripheral sensory neuropathy in Alstrom syndrome in contrast to early onset type2 diabetes. Diabetes Care 2009;32:462-464
-
(2009)
Diabetes Care
, vol.32
, pp. 462-464
-
-
Paisey, R.B.1
Paisey, R.M.2
Thomson, M.P.3
Bower, L.4
Maffei, P.5
Shield, J.P.6
|