-
1
-
-
0030039655
-
Neonatal Schwartz-Jampel syndrome: A common recessive syndrome in the United Arab Emirates
-
Al Gazali LI, Varghese M, Varady E, Al Talabani AI, Scorer J, Bakalinova D. Neonatal Schwartz-Jampel syndrome: a common recessive syndrome in the United Arab Emirates. J Med Genet 1996; 33: 203-211
-
(1996)
J Med Genet
, vol.33
, pp. 203-211
-
-
Al Gazali, L.I.1
Varghese, M.2
Varady, E.3
Al Talabani, A.I.4
Scorer, J.5
Bakalinova, D.6
-
2
-
-
0037241860
-
Stüve-Wiedemann syndrome in children surviving infancy: Clinical and radiological features
-
Al Gazali LI, Ravenscroft A, Feng A, Shubbar A, Al-Saggaf A, Haas D. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol 2003; 12: 1-8
-
(2003)
Clin Dysmorphol
, vol.12
, pp. 1-8
-
-
Al Gazali, L.I.1
Ravenscroft, A.2
Feng, A.3
Shubbar, A.4
Al-Saggaf, A.5
Haas, D.6
-
3
-
-
0141993248
-
Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population
-
Al Gazali LI, Bakir M, Hamid Z, Varady E, Varghes M, Haas D, Bener A, Padmanabhan R, Abdulrazzaq YM, Dawodu A. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population. Birth Defects Research 2003; 67: 125-132
-
(2003)
Birth Defects Research
, vol.67
, pp. 125-132
-
-
Al Gazali, L.I.1
Bakir, M.2
Hamid, Z.3
Varady, E.4
Varghes, M.5
Haas, D.6
Bener, A.7
Padmanabhan, R.8
Abdulrazzaq, Y.M.9
Dawodu, A.10
-
4
-
-
0030612874
-
Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain
-
Chabrol B, Sigaudy S, Paquin U, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. Am J Med Genet 1997; 72: 222-226
-
(1997)
Am J Med Genet
, vol.72
, pp. 222-226
-
-
Chabrol, B.1
Sigaudy, S.2
Paquin, U.3
Montfort, M.F.4
Giudicelli, H.5
Pellissier, J.F.6
Millet, V.7
Mancini, J.8
Philip, N.9
-
5
-
-
0035400130
-
Characterization of a long-term survivir with Stüve-Wiedemann syndrome and mosaicism of supernumerary marker chromosome
-
Chen E, Cotter PD, Cohen RA, Lachman RS. Characterization of a long-term survivir with Stüve-Wiedemann syndrome and mosaicism of supernumerary marker chromosome. Am J Med Genet 2001; 101: 240-245
-
(2001)
Am J Med Genet
, vol.101
, pp. 240-245
-
-
Chen, E.1
Cotter, P.D.2
Cohen, R.A.3
Lachman, R.S.4
-
6
-
-
0032580788
-
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
-
Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, DeLonglay P, Giedion A, Maroteaux P, LeMerrer M. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet 1998; 78: 146-149
-
(1998)
Am J Med Genet
, vol.78
, pp. 146-149
-
-
Cormier-Daire, V.1
Superti-Furga, A.2
Munnich, A.3
Lyonnet, S.4
Rustin, P.5
Delezoide, A.L.6
Delonglay, P.7
Giedion, A.8
Maroteaux, P.9
Lemerrer, M.10
-
7
-
-
0031593875
-
Presentation of six cases of Stüve-Wiedemann syndrome
-
Cormier-Daire V, Munnich A, Lyonnet S, Rustin P, Delezoide A-L, Maroteaux P, LeMerrer M. Presentation of six cases of Stüve-Wiedemann syndrome. Pediatr Radiol 1998; 28: 776-780
-
(1998)
Pediatr Radiol
, vol.28
, pp. 776-780
-
-
Cormier-Daire, V.1
Munnich, A.2
Lyonnet, S.3
Rustin, P.4
Delezoide, A.-L.5
Maroteaux, P.6
Lemerrer, M.7
-
8
-
-
0042331463
-
Long-term survival in stüve-wiedemann syndrome: A neuro-myo-skeletal disorder with manifestations of dysautonomia
-
Di Rocco M, Stella G, Bruno C, Lamba LD, Bado M, Superti-Furga A. Long-Term Survival in Stüve-Wiedemann Syndrome: A Neuro-Myo-Skeletal Disorder With Manifestations of Dysautonomia. Am J Med Genet 2003; 118: 362-358
-
(2003)
Am J Med Genet
, vol.118
, pp. 362-1358
-
-
Di Rocco, M.1
Stella, G.2
Bruno, C.3
Lamba, L.D.4
Bado, M.5
Superti-Furga, A.6
-
9
-
-
0018834403
-
Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases
-
Hall CD, Spranger J. Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases. Eur J Pediatr 1980; 7: 131-138
-
(1980)
Eur J Pediatr
, vol.7
, pp. 131-138
-
-
Hall, C.D.1
Spranger, J.2
-
10
-
-
8044242330
-
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia
-
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997; 156: 214-233
-
(1997)
Eur J Pediatr
, vol.156
, pp. 214-233
-
-
Giedion, A.1
Boltshauser, E.2
Briner, J.3
Eich, G.4
Exner, G.5
Fendel, H.6
Kaufmann, L.7
Steinmann, B.8
Spranger, J.9
Superti-Furga, A.10
-
12
-
-
0029666388
-
Stüve-Wiedemann dysplasia in a 31/2-year-old boy
-
Kozlowski K, Tenconi R. Stüve-Wiedemann dysplasia in a 31/2-year-old boy. Am J Med Genet 1996; 663: 17-19
-
(1996)
Am J Med Genet
, vol.663
, pp. 17-19
-
-
Kozlowski, K.1
Tenconi, R.2
-
13
-
-
1442326035
-
Ossäre manifestationen und CT-befunde bei der seltenen skelettdysplasie stüve-wiedemann (SWS)
-
Langer R, Al-Gazali LI, Haas D, Raupp P, Varady E. Ossäre Manifestationen und CT-Befunde bei der seltenen Skelettdysplasie Stüve-Wiedemann (SWS). Fortschr Röntgenstr 2004; 176: 215-221
-
(2004)
Fortschr Röntgenstr
, vol.176
, pp. 215-221
-
-
Langer, R.1
Al-Gazali, L.I.2
Haas, D.3
Raupp, P.4
Varady, E.5
-
14
-
-
0027256192
-
Conduite a tenir devant la decouverture echographique d' un femur court in utero. Apropos d' un diagnostic antenatal de syndrome de Stüve-Wiedemann
-
Philippe HJ, Paupe A, Dompeyre P, Lenclen R, Nisand I. Conduite a tenir devant la decouverture echographique d' un femur court in utero. Apropos d' un diagnostic antenatal de syndrome de Stüve-Wiedemann. J Gyn Obst Rep (Paris) 1993; 22: 269-274
-
(1993)
J Gyn Obst Rep (Paris)
, vol.22
, pp. 269-274
-
-
Philippe, H.J.1
Paupe, A.2
Dompeyre, P.3
Lenclen, R.4
Nisand, I.5
-
15
-
-
0021258772
-
Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity
-
Rezza E, Iannacone G, Lendvai D. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Pediatr Radiol 1984; 14: 323-327
-
(1984)
Pediatr Radiol
, vol.14
, pp. 323-327
-
-
Rezza, E.1
Iannacone, G.2
Lendvai, D.3
-
17
-
-
0034597369
-
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
-
Spranger J, Hall BD, Hane B, Srivastava A, Stevenson RE. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 2000; 94: 287-295
-
(2000)
Am J Med Genet
, vol.94
, pp. 287-295
-
-
Spranger, J.1
Hall, B.D.2
Hane, B.3
Srivastava, A.4
Stevenson, R.E.5
-
19
-
-
0015187817
-
Angeborene verbiegungen langer röhrenknochen - Eine geschwisterbeobachtung
-
Stüve A, Wiedemann HR. Angeborene Verbiegungen langer Röhrenknochen - eine Geschwisterbeobachtung. Zschr Kinderh 1971; 111: 184-192
-
(1971)
Zschr Kinderh
, vol.111
, pp. 184-192
-
-
Stüve, A.1
Wiedemann, H.R.2
-
20
-
-
0032581120
-
Schwartz-Jampel-syndrome type 2 and Stüve-Wiedemann-syndrome: A case for "lumping"
-
Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Schwartz-Jampel-syndrome type 2 and Stüve-Wiedemann-syndrome: A case for "lumping". Am J Med Genet 1998; 78: 150-154
-
(1998)
Am J Med Genet
, vol.78
, pp. 150-154
-
-
Superti-Furga, A.1
Tenconi, R.2
Clementi, M.3
Eich, G.4
Steinmann, B.5
Boltshauser, E.6
Giedion, A.7
-
21
-
-
2842536025
-
Stüve-Wiedemann syndrome: Update and historical footnote
-
Wiedemann HR, Stüve A. Stüve-Wiedemann syndrome: Update and historical footnote. Am J Med Genet 1996; 96: 12-16
-
(1996)
Am J Med Genet
, vol.96
, pp. 12-16
-
-
Wiedemann, H.R.1
Stüve, A.2
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