-
1
-
-
0001415665
-
Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome)
-
Aberfeld DC, Hinterbuchner LP, Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965;88:313-22.
-
(1965)
Brain
, vol.88
, pp. 313-322
-
-
Aberfeld, D.C.1
Hinterbuchner, L.P.2
Schneider, M.3
-
3
-
-
0017811957
-
Schwartz-Jampel syndrome in two daughters of first cousins
-
Pavon L, Mollica F, Grasso A, Cao A, Gullotta F. Schwartz-Jampel syndrome in two daughters of first cousins. J Neurol Neurosurg Psychiatry 1978;41:161-9.
-
(1978)
J Neurol Neurosurg Psychiatry
, vol.41
, pp. 161-169
-
-
Pavon, L.1
Mollica, F.2
Grasso, A.3
Cao, A.4
Gullotta, F.5
-
4
-
-
0015739133
-
The Schwartz-Jampel syndrome in Southern Africa
-
Beighton P. The Schwartz-Jampel syndrome in Southern Africa. Clin Genet 1973;4:540-55.
-
(1973)
Clin Genet
, vol.4
, pp. 540-555
-
-
Beighton, P.1
-
5
-
-
0024539510
-
Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation
-
Hunziker URSA, Savoldelli G, Boltshauser E, Giedion A, Schinzel A. Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. Prenat Diagn 1989;9:127-31.
-
(1989)
Prenat Diagn
, vol.9
, pp. 127-131
-
-
Hunziker, U.R.S.A.1
Savoldelli, G.2
Boltshauser, E.3
Giedion, A.4
Schinzel, A.5
-
6
-
-
0018174012
-
Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome
-
Seay AR, Ziter FA. Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome. J Pediatr 1978;93:83-4.
-
(1978)
J Pediatr
, vol.93
, pp. 83-84
-
-
Seay, A.R.1
Ziter, F.A.2
-
7
-
-
0017869420
-
A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings
-
Fariello R, Meloff K, Murphy EG, Reilly BJ, Armstrong D. A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings. Ann Neurol 1978;3:93-6.
-
(1978)
Ann Neurol
, vol.3
, pp. 93-96
-
-
Fariello, R.1
Meloff, K.2
Murphy, E.G.3
Reilly, B.J.4
Armstrong, D.5
-
8
-
-
0019522601
-
Congenital myopathy with oculo-facial and skeletal abnormalities
-
Ferguson SD, Young ID, Teoh R. Congenital myopathy with oculo-facial and skeletal abnormalities. Dev Med Child Neural 1981;23:237-42.
-
(1981)
Dev Med Child Neural
, vol.23
, pp. 237-242
-
-
Ferguson, S.D.1
Young, I.D.2
Teoh, R.3
-
9
-
-
0014626845
-
Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle
-
Huttenlocher PR, Landwirth J, Hanson V, Gallagher BB, Bensch K. Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia and dystrophic changes in muscle. Pediatrics 1969;44:945-58.
-
(1969)
Pediatrics
, vol.44
, pp. 945-958
-
-
Huttenlocher, P.R.1
Landwirth, J.2
Hanson, V.3
Gallagher, B.B.4
Bensch, K.5
-
11
-
-
0030039655
-
Neonatal Schwartz-Jampel syndrome: A common autosomal recessive syndrome in the United Arab Emirates
-
Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. JAM Genet 1996;33:203-11.
-
(1996)
JAM Genet
, vol.33
, pp. 203-211
-
-
Al-Gazali, L.I.1
Varghese, M.2
Varady, E.3
Al Talabani, J.4
Scorer, J.5
Bakalinova, D.6
-
12
-
-
0017873273
-
Schwartz-Jampel syndrome
-
Cao A, Cianchetti C, Calisti L, de Virgilis S, Ferelli A, Tangheron W. Schwartz-Jampel syndrome. J Neurol Sci 1978;35:175-87.
-
(1978)
J Neurol Sci
, vol.35
, pp. 175-187
-
-
Cao, A.1
Cianchetti, C.2
Calisti, L.3
De Virgilis, S.4
Ferelli, A.5
Tangheron, W.6
-
13
-
-
0023270834
-
Neonatal manifestations of Schwartz-Jampel syndrome
-
Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet 1987;27:799-805.
-
(1987)
Am J Med Genet
, vol.27
, pp. 799-805
-
-
Farrell, S.A.1
Davidson, R.G.2
Thorp, P.3
-
14
-
-
0020568576
-
Sindrome di Schwartz-Jampel. Description of a case with neonatal manifestations and review of literature
-
Rosignoli RF, Zanini F. Sindrome di Schwartz-Jampel. Description of a case with neonatal manifestations and review of literature. Minerva Pediatr 1983;35:509-13.
-
(1983)
Minerva Pediatr
, vol.35
, pp. 509-513
-
-
Rosignoli, R.F.1
Zanini, F.2
-
15
-
-
0027481259
-
The Schwartz-Jampel syndrome
-
Al-Gazali LI. The Schwartz-Jampel syndrome. Clin Dysmorphol 1993;2:47-54.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 47-54
-
-
Al-Gazali, L.I.1
-
16
-
-
0029127267
-
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-36.1 by homozygosity mapping
-
Nicole S, Ben Hamida C, Heighton P, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-36.1 by homozygosity mapping. Hum Mol Genet 1995;4:1633-6.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1633-1636
-
-
Nicole, S.1
Ben Hamida, C.2
Heighton, P.3
-
17
-
-
9344222191
-
Recessive Schwartz-Jampel syndrome (SJS): Confirmation of linkage to chromosome 1p and reduction of the SJS locus to a 3 cM interval
-
Fontaine B, Nicole S, Topaloglu H, et al. Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p and reduction of the SJS locus to a 3 cM interval. Hum Genet 1996;98:380-5.
-
(1996)
Hum Genet
, vol.98
, pp. 380-385
-
-
Fontaine, B.1
Nicole, S.2
Topaloglu, H.3
-
18
-
-
0025176813
-
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
-
McLennan DH, Duff C, Zorzato F, et al. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 1990;343:559-61.
-
(1990)
Nature
, vol.343
, pp. 559-561
-
-
McLennan, D.H.1
Duff, C.2
Zorzato, F.3
-
19
-
-
0026631408
-
Evidence for generic heterogeneity of malignant hyperthermia susceptibility (MHS)
-
Deufel T, Golla A, Iles D, et al. Evidence for generic heterogeneity of malignant hyperthermia susceptibility (MHS). Am J Hum Genet 1992;50:1151-61.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1151-1161
-
-
Deufel, T.1
Golla, A.2
Iles, D.3
|