-
1
-
-
0001827184
-
Four cases of "retinitis pigmentosa" occurring in the same family and accompanied by general imperfections of development
-
Laurence JC, Moon RC. Four cases of "retinitis pigmentosa" occurring in the same family and accompanied by general imperfections of development. Ophthalmol Rev 1866; 2: 32-41.
-
(1866)
Ophthalmol Rev
, vol.2
, pp. 32-41
-
-
Laurence, J.C.1
Moon, R.C.2
-
3
-
-
0001539825
-
Ein Geschwisterpaar mit adiposo-genitaler Dystrofie
-
Biedl A. Ein Geschwisterpaar mit adiposo-genitaler Dystrofie. Dtsch Med Wochenschr 1922; 4: 1630.
-
(1922)
Dtsch Med Wochenschr
, vol.4
, pp. 1630
-
-
Biedl, A.1
-
4
-
-
0020057211
-
Bardet-Biedl syndrome and related diseases
-
Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related diseases. Arch Ophthatmol 1982; 100: 285-288.
-
(1982)
Arch Ophthatmol
, vol.100
, pp. 285-288
-
-
Schachat, A.P.1
Maumenee, I.H.2
-
5
-
-
0024472754
-
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome
-
Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer PC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips F. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002-9.
-
(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, P.C.5
Johnson, G.6
Heath, O.7
McManamon, P.J.8
O'Leary, E.9
Pryse-Phillips, F.10
-
6
-
-
0022970542
-
Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype
-
Rizzo JF, Berson EL, Lessell S. Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype. Ophthalmology 1986; 93: 1452-1456.
-
(1986)
Ophthalmology
, vol.93
, pp. 1452-1456
-
-
Rizzo, J.F.1
Berson, E.L.2
Lessell, S.3
-
7
-
-
0024318536
-
A family with the Bardet-Biedl syndrome and diabetes mellitus
-
Escallon F, Traboulsi EI, Infante R. A family with the Bardet-Biedl syndrome and diabetes mellitus. Arch Ophthalmol 1989; 107: 855-857.
-
(1989)
Arch Ophthalmol
, vol.107
, pp. 855-857
-
-
Escallon, F.1
Traboulsi, E.I.2
Infante, R.3
-
8
-
-
0025126842
-
A patient with features of both Bardet-Biedl and Alström syndromes
-
Hauser C, Rojas C, Roth A, Schmied E, Saurat J-H. A patient with features of both Bardet-Biedl and Alström syndromes. Eur J Pediatr 1990; 149: 783-785.
-
(1990)
Eur J Pediatr
, vol.149
, pp. 783-785
-
-
Hauser, C.1
Rojas, C.2
Roth, A.3
Schmied, E.4
Saurat, J.-H.5
-
9
-
-
0025898483
-
Quadriparesis in the Laurence-Moon-Bardet-Biedl syndrome: Case report
-
Nyska M, Mozes G, Howard C, Bar-Ziv J, Dekel S, Quadriparesis in the Laurence-Moon-Bardet-Biedl syndrome: case report. Paraplegia 1991; 29: 350-354.
-
(1991)
Paraplegia
, vol.29
, pp. 350-354
-
-
Nyska, M.1
Mozes, G.2
Howard, C.3
Bar-Ziv, J.4
Dekel, S.5
-
11
-
-
0014605392
-
The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland
-
Klein D, Ammann F. The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. J Neurol Sci 1969; 9: 479-513.
-
(1969)
J Neurol Sci
, vol.9
, pp. 479-513
-
-
Klein, D.1
Ammann, F.2
-
13
-
-
0026658481
-
Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset
-
Haim M. Prevalence of retinitis pigmentosa and allied disorders in Denmark. II. Systemic involvement and age at onset. Acta Ophthalmol (Copenh) 1992; 70: 417-425.
-
(1992)
Acta Ophthalmol (Copenh)
, vol.70
, pp. 417-425
-
-
Haim, M.1
-
14
-
-
0002070475
-
On brachydactyly and symphalangism
-
Penrose LS. part 1. Cambridge: Cambridge University Press
-
Bell J. On brachydactyly and symphalangism. In: Penrose LS. The treasury of human inheritance, vol 5. part 1. Cambridge: Cambridge University Press, 1951: 1-31.
-
(1951)
The Treasury of Human Inheritance
, vol.5
, pp. 1-31
-
-
Bell, J.1
-
15
-
-
0017095704
-
Problems in polydactyly of the foot
-
Venn-Watson EA. Problems in polydactyly of the foot. Orthop Clin North Am 1976; 7: 909-927.
-
(1976)
Orthop Clin North Am
, vol.7
, pp. 909-927
-
-
Venn-Watson, E.A.1
-
16
-
-
10244220389
-
-
Thesis. Johns Hopkins University, Baltimore, Md
-
Temtarny SA. Genetic factors in hand malformations. Thesis. Johns Hopkins University, Baltimore, Md, 1966. Quoted in Poznanski AK. The hand in radiologic diagnosis, 2nd edn. Philadelphia: WB Saunders, 1989.
-
(1966)
Genetic Factors in Hand Malformations
-
-
Temtarny, S.A.1
-
17
-
-
0004061368
-
-
Philadelphia: WB Saunders
-
Temtarny SA. Genetic factors in hand malformations. Thesis. Johns Hopkins University, Baltimore, Md, 1966. Quoted in Poznanski AK. The hand in radiologic diagnosis, 2nd edn. Philadelphia: WB Saunders, 1989.
-
(1989)
The Hand in Radiologic Diagnosis, 2nd Edn.
-
-
Poznanski, A.K.1
-
18
-
-
0028841278
-
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci
-
Carmi R, Elbedour K, Stone E, Sheffield VC. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. A J Med Gen 1995; 199-203.
-
(1995)
A J Med Gen
, pp. 199-203
-
-
Carmi, R.1
Elbedour, K.2
Stone, E.3
Sheffield, V.C.4
|