-
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
-
Alström CH, Hallgren B, Nilsson LB (1959) Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome. Acta Psychiatr Neurol Scand 34 [Suppl 129]:1
-
(1959)
Acta Psychiatr. Neurol. Scand.
, vol.34
, Issue.SUPPL. 129
, pp. 1
-
-
Alström, C.H.1
Hallgren, B.2
Nilsson, L.B.3
-
2
-
-
85036706675
-
Growth hormone deficiency in two siblings with Alström syndrome
-
Alter CA, Moshang T (1997) Growth hormone deficiency in two siblings with Alström syndrome. Mol Genet 2:213-219
-
(1997)
Mol. Genet.
, vol.2
, pp. 213-219
-
-
Alter, C.A.1
Moshang, T.2
-
3
-
-
0027411211
-
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation
-
Boor R, Herwig J, Schrezenmeir J, Pontz BF, Schönberger W (1993) Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation. Am J Med Genet 45:649-653
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 649-653
-
-
Boor, R.1
Herwig, J.2
Schrezenmeir, J.3
Pontz, B.F.4
Schönberger, W.5
-
4
-
-
0025003980
-
Alström syndrome: Evidence of autosomal recessive inheritance and endocrinological dysfunction
-
Charles SJ, Moore AT, Yates JRW, Green T, Clark P (1990) Alström syndrome: evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet 27:590-592
-
(1990)
J. Med. Genet.
, vol.27
, pp. 590-592
-
-
Charles, S.J.1
Moore, A.T.2
Yates, J.R.W.3
Green, T.4
Clark, P.5
-
5
-
-
0028353342
-
The Alström syndrome: A new variant?
-
Cohen J, Kisch ES (1994) The Alström syndrome: a new variant? Isr J Med Sci 30:234-236
-
(1994)
Isr. J. Med. Sci.
, vol.30
, pp. 234-236
-
-
Cohen, J.1
Kisch, E.S.2
-
7
-
-
0025918317
-
Hepatic dysfunction in Alström disease
-
Connolly MB, Jan JE, Couch RM, Wong LTK, Dimmick JE, Rigg JM (1991) Hepatic dysfunction in Alström disease. Am J Med Genet 40:421-424
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 421-424
-
-
Connolly, M.B.1
Jan, J.E.2
Couch, R.M.3
Wong, L.T.K.4
Dimmick, J.E.5
Rigg, J.M.6
-
9
-
-
0017282796
-
A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance
-
Edwards JA, Sethi PK, Scoma A. Bannerman RM, Frohman L.A (1976) A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Am J Med 60:23-32
-
(1976)
Am. J. Med.
, vol.60
, pp. 23-32
-
-
Edwards, J.A.1
Sethi, P.K.2
Scoma, A.3
Bannerman, R.M.4
Frohman, L.A.5
-
10
-
-
0017061331
-
Fréquence des affections héréditaires dans les instituts de déficients visuels
-
Feingold J, Briard ML, Kaplan J, Bonaiti C, Crouzet J, Demailly ML, Morel J, Delthil S (1976) Fréquence des affections héréditaires dans les instituts de déficients visuels. J Genet Hum 24:85-91
-
(1976)
J. Genet. Hum.
, vol.24
, pp. 85-91
-
-
Feingold, J.1
Briard, M.L.2
Kaplan, J.3
Bonaiti, C.4
Crouzet, J.5
Demailly, M.L.6
Morel, J.7
Delthil, S.8
-
11
-
-
0015535502
-
The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspect of the disorder
-
Goldstein JL, Fialkow PJ (1973) The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspect of the disorder. Medicine (Baltimore) 52:53-71
-
(1973)
Medicine (Baltimore)
, vol.52
, pp. 53-71
-
-
Goldstein, J.L.1
Fialkow, P.J.2
-
12
-
-
0014605392
-
The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies
-
Klein D, Ammann F (1969) The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies. J Neurol Sci 9:479-513
-
(1969)
J. Neurol. Sci.
, vol.9
, pp. 479-513
-
-
Klein, D.1
Ammann, F.2
-
13
-
-
0032406253
-
Refinement of genetic localization of the Alström syndrome on chromosome 2pl2-13 by linkage analysis in a North African family
-
Macari F, Lautier C, Girardet A, Dadoun F, Darmon P, Dutour A, Renard E, Bouvagnet P, Claustres M, Oliver C, Grigorescu F (1998) Refinement of genetic localization of the Alström syndrome on chromosome 2pl2-13 by linkage analysis in a North African family. Hum Genet 103:658-661
-
(1998)
Hum. Genet.
, vol.103
, pp. 658-661
-
-
Macari, F.1
Lautier, C.2
Girardet, A.3
Dadoun, F.4
Darmon, P.5
Dutour, A.6
Renard, E.7
Bouvagnet, P.8
Claustres, M.9
Oliver, C.10
Grigorescu, F.11
-
14
-
-
0029664835
-
Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy
-
Michaud JL, Heon E, Guilbert F, et al (1996) Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr 128:225-229
-
(1996)
J. Pediatr.
, vol.128
, pp. 225-229
-
-
Michaud, J.L.1
Heon, E.2
Guilbert, F.3
-
17
-
-
0021647930
-
The Alström syndrome: Ophtalmic histopathology and retinal ultrastructure
-
Sebag J, Albert DM, Craft JL (1984) The Alström syndrome: Ophtalmic histopathology and retinal ultrastructure. Br J Oplithalmol 68:494-501
-
(1984)
Br. J. Ophthalmol.
, vol.68
, pp. 494-501
-
-
Sebag, J.1
Albert, D.M.2
Craft, J.L.3
-
18
-
-
0017838499
-
Refractive error of retinitis pigmentosa patients
-
Sieving PA, Fishman G.A (1978) Refractive error of retinitis pigmentosa patients. Br J Ophthalmol 62:163-167
-
(1978)
Br. J. Ophthalmol.
, vol.62
, pp. 163-167
-
-
Sieving, P.A.1
Fishman, G.A.2
-
20
-
-
0027232213
-
Longitudinal study of the early electroretigraphic changes in Alström's syndrome
-
Tremblay F, La Roche RG, Shea SE, Ludman MD (1993) Longitudinal study of the early electroretigraphic changes in Alström's syndrome. Am J Ophthalmol 115:657-665
-
(1993)
Am. J. Ophthalmol.
, vol.115
, pp. 657-665
-
-
Tremblay, F.1
La Roche, R.G.2
Shea, S.E.3
Ludman, M.D.4
-
21
-
-
85036723237
-
Syndromes oculo-auditifs
-
21-470-A-50
-
Urvoy M, Toulemont PJ, Le Marec B, Chevrant-Breton J (1994) Syndromes oculo-auditifs. EMC Ophtalmologie, 21-470-A-50, 10 p
-
(1994)
EMC Ophtalmologie
, pp. 10
-
-
Urvoy, M.1
Toulemont, P.J.2
Le Marec, B.3
Chevrant-Breton, J.4
-
22
-
-
0001571918
-
On the inheritance of retinitis pigmentosa with notes of cases
-
Usher CH (1913) On the inheritance of retinitis pigmentosa with notes of cases. R Lond Ophthalmol Hosp Res 19:130-236
-
(1913)
R. Lond. Ophthalmol. Hosp. Res.
, vol.19
, pp. 130-236
-
-
Usher, C.H.1
-
23
-
-
0014696328
-
Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities
-
Weinstein RL, Kliman B, Scully RE (1969) Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities. N Engl J Med 281:969-977 ff
-
(1969)
N. Engl. J. Med.
, vol.281
, pp. 969-977
-
-
Weinstein, R.L.1
Kliman, B.2
Scully, R.E.3
|