-
1
-
-
0029807941
-
A revised and extended classification of the distal arthrogryposes
-
in press
-
Bamshad M, Jorde LB, Carey JC (1996): A revised and extended classification of the distal arthrogryposes. Am J Med Genet (in press).
-
(1996)
Am J Med Genet
-
-
Bamshad, M.1
Jorde, L.B.2
Carey, J.C.3
-
2
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutation in an SRY-related gene
-
Foster JM, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafter A (1994): Campomelic dysplasia and autosomal sex reversal caused by mutation in an SRY-related gene. Nature 372:525-530.
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.M.1
Dominguez-Steglich, M.A.2
Guioli, S.3
Kwok, C.4
Weller, P.A.5
Stevanovic, M.6
Weissenbach, J.7
Mansour, S.8
Young, I.D.9
Goodfellow, P.N.10
Brook, J.D.11
Schafter, A.12
-
4
-
-
0018834403
-
Congenital bowing of the long bones
-
Hall BD, Spranger J (1980a): Congenital bowing of the long bones. Eur J Pediatr 133:131-138.
-
(1980)
Eur J Pediatr
, vol.133
, pp. 131-138
-
-
Hall, B.D.1
Spranger, J.2
-
6
-
-
0020615253
-
The campomelic syndrome
-
Houston CS, Opitz JM, Spranger J, Macpherson RI, Reed MH, Gilbert EF, Herrmann J, Schinzel A (1983): The campomelic syndrome. Am J Med Genet 15:3-28.
-
(1983)
Am J Med Genet
, vol.15
, pp. 3-28
-
-
Houston, C.S.1
Opitz, J.M.2
Spranger, J.3
Macpherson, R.I.4
Reed, M.H.5
Gilbert, E.F.6
Herrmann, J.7
Schinzel, A.8
-
7
-
-
0029666388
-
Stuve-Wiedemann dysplasia in a 31/2 year old boy
-
Kozlowski K, Tenconi R (1996): Stuve-Wiedemann dysplasia in a 31/2 year old boy. Am J Med Genet 63:17-19.
-
(1996)
Am J Med Genet
, vol.63
, pp. 17-19
-
-
Kozlowski, K.1
Tenconi, R.2
-
8
-
-
0028882260
-
Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
-
Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HP, Dominguez-Steglich MA, Brook JD, Young ID, Goodfellow PN, Schafer AJ (1995): Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 57:1028-1036.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1028-1036
-
-
Kwok, C.1
Weller, P.A.2
Guioli, S.3
Foster, J.W.4
Mansour, S.5
Zuffardi, O.6
Punnett, H.P.7
Dominguez-Steglich, M.A.8
Brook, J.D.9
Young, I.D.10
Goodfellow, P.N.11
Schafer, A.J.12
-
9
-
-
0013671660
-
The campomelic syndrome
-
Maroteaux P (1973): The campomelic syndrome. Prog Pediatr Radiol 4:578-581.
-
(1973)
Prog Pediatr Radiol
, vol.4
, pp. 578-581
-
-
Maroteaux, P.1
-
11
-
-
0015236288
-
Le syndrome campomélique
-
Maroteaux P, Spranger J, Opitz JM, Kučera J, Lowry RB, Schimke RN, Kagan SM (1971): Le syndrome campomélique. Presse Med 79:1157-1162.
-
(1971)
Presse Med
, vol.79
, pp. 1157-1162
-
-
Maroteaux, P.1
Spranger, J.2
Opitz, J.M.3
Kučera, J.4
Lowry, R.B.5
Schimke, R.N.6
Kagan, S.M.7
-
13
-
-
0026566777
-
International classification of osteochondrodysplasias
-
Spranger J (1992): International classification of osteochondrodysplasias. Eur J Pediatr 151:407-415.
-
(1992)
Eur J Pediatr
, vol.151
, pp. 407-415
-
-
Spranger, J.1
-
16
-
-
0014931550
-
Increasing frequency of a syndrome of multiple osseous defects
-
Spranger J, Langer LO, Maroteaux P (1970): Increasing frequency of a syndrome of multiple osseous defects. Lancet 2:716.
-
(1970)
Lancet
, vol.2
, pp. 716
-
-
Spranger, J.1
Langer, L.O.2
Maroteaux, P.3
-
17
-
-
0015243570
-
Congenital bowing of the long bones in two sisters
-
Stüve A, Wiedemann H-R (1971a): Congenital bowing of the long bones in two sisters. Lancet 2:495.
-
(1971)
Lancet
, vol.2
, pp. 495
-
-
Stüve, A.1
Wiedemann, H.-R.2
-
18
-
-
0015187817
-
Angeborene Verbiegungen langer Röhrenknochen - Eine Geschwisterbeobachtung
-
Stüve A, Wiedemann H-R (1971b): Angeborene Verbiegungen langer Röhrenknochen - eine Geschwisterbeobachtung. Z Kinderheilkd 111:184-192.
-
(1971)
Z Kinderheilkd
, vol.111
, pp. 184-192
-
-
Stüve, A.1
Wiedemann, H.-R.2
-
19
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations and around the SRY-related gene SOX9
-
Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, Pasantes J, Dagna Bricarelli F, Keutel J, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G (1994): Autosomal sex reversal and campomelic dysplasia are caused by mutations and around the SRY-related gene SOX9. Cell 79:1111-1120.
-
(1994)
Cell
, vol.79
, pp. 1111-1120
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
Zabel, B.4
Held, M.5
Zimmer, J.6
Pasantes, J.7
Dagna Bricarelli, F.8
Keutel, J.9
Hustert, E.10
Wolf, U.11
Tommerup, N.12
Schempp, W.13
Scherer, G.14
|