-
1
-
-
0001387754
-
Hereditary of the aqueduct of Sylvius as a cause of congenital hydrocephalus
-
Bickers, D. S., R. D. Adams: Hereditary of the aqueduct of Sylvius as a cause of congenital hydrocephalus. Brain 72 (1949) 246-262
-
(1949)
Brain
, vol.72
, pp. 246-262
-
-
Bickers, D.S.1
Adams, R.D.2
-
2
-
-
0000005624
-
Sex-linked hydrocephalus. Report of a family with 15 affected members
-
Edwards, J. H., R. M. Norman, J. M. Roberts Sex-linked hydrocephalus. Report of a family with 15 affected members. Arch. Dis. Childhood 36 (1961) 481-485
-
(1961)
Arch. Dis. Childhood
, vol.36
, pp. 481-485
-
-
Edwards, J.H.1
Norman, R.M.2
Roberts, J.M.3
-
3
-
-
0025911628
-
X linked complicated spastic paraplegia. MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: Variable expression of the same mutation at Xq28
-
Fryns, J. P., A. Spaepen, J. J. Cassiman, H. Van den Berghe: X linked complicated spastic paraplegia. MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28. J. Med. Genet. 28 (1991) 429-431
-
(1991)
J. Med. Genet.
, vol.28
, pp. 429-431
-
-
Fryns, J.P.1
Spaepen, A.2
Cassiman, J.J.3
Van Den Berghe, H.4
-
4
-
-
0022571148
-
X linked hydrocephalus: A survey of a 20 year period in Victoria. Australia
-
Halliday, J., C. W. Chow, D. Wallace, D. M. Danks: X linked hydrocephalus: a survey of a 20 year period in Victoria. Australia. J. Med. Gen. 23 (1986) 23-31
-
(1986)
J. Med. Gen.
, vol.23
, pp. 23-31
-
-
Halliday, J.1
Chow, C.W.2
Wallace, D.3
Danks, D.M.4
-
5
-
-
0015606919
-
X-linked aqueductal stenosis: Clinical and neuropathological findings in two families
-
Holmes, L. B., A. Nash, ZuRhein et al.: X-linked aqueductal stenosis: clinical and neuropathological findings in two families. Ped. 51 (1973) 617-704
-
(1973)
Ped.
, vol.51
, pp. 617-704
-
-
Holmes, L.B.1
Nash, A.2
ZuRhein3
-
6
-
-
0019849701
-
A family study of hydrocephalus resulting from aqueduct stenosis
-
Howard, F. M., K. Till, C. O. Carrer: A family study of hydrocephalus resulting from aqueduct stenosis. J. Med. Genet. 18 (1981) 252-255
-
(1981)
J. Med. Genet.
, vol.18
, pp. 252-255
-
-
Howard, F.M.1
Till, K.2
Carrer, C.O.3
-
8
-
-
0027250705
-
A missense mutation confirms the L1 defect in X-linked hydrocephalus
-
Jouer, M., A. Rosenthal, J. MacFarlane, S. Kenwrick: A missense mutation confirms the L1 defect in X-linked hydrocephalus. Nature genetics 4 (1993) 331
-
(1993)
Nature Genetics
, vol.4
, pp. 331
-
-
Jouer, M.1
Rosenthal, A.2
MacFarlane, J.3
Kenwrick, S.4
-
9
-
-
0028288982
-
Clinical aspects of the MASA syndrome in a large family, including expressing females
-
Kaepernick, L., E. Legius, J. Higgins, S. Kapur: Clinical aspects of the MASA syndrome in a large family, including expressing females. Clin. Genet. 45 (1994) 181-185
-
(1994)
Clin. Genet.
, vol.45
, pp. 181-185
-
-
Kaepernick, L.1
Legius, E.2
Higgins, J.3
Kapur, S.4
-
10
-
-
0018639096
-
Aqueductal Stenosis in X-Linked Hydrocephalus: A Secondary Phenomenon?
-
Landrieu, P., J. Ninane, G. Ferrière, G. Lyon: Aqueductal Stenosis in X-Linked Hydrocephalus: a Secondary Phenomenon? Develop. Med. Child. Neurol. 21 (1979) 637
-
(1979)
Develop. Med. Child. Neurol.
, vol.21
, pp. 637
-
-
Landrieu, P.1
Ninane, J.2
Ferrière, G.3
Lyon, G.4
-
11
-
-
0028202174
-
Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28
-
Legius, E., L. Kaepernick, J. V. Higgins, T. W. Glover: Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28. Clin. Genet. 45 (1994) 165-168
-
(1994)
Clin. Genet.
, vol.45
, pp. 165-168
-
-
Legius, E.1
Kaepernick, L.2
Higgins, J.V.3
Glover, T.W.4
-
12
-
-
0006567259
-
X-linked mental retardation. Study of a lare kindred with 20 affected members
-
Opitz, J. M., A. T. Segal, H. Klove et al.: X-linked mental retardation. Study of a lare kindred with 20 affected members. J. Pediatr. 67 (1965) 713-714
-
(1965)
J. Pediatr.
, vol.67
, pp. 713-714
-
-
Opitz, J.M.1
Segal, A.T.2
Klove, H.3
-
13
-
-
0026750654
-
X-linked hydrocephalus: Clinical heterogeneity at a single gene locus
-
Serville, F., S. Lyonnet, A. Peter et al.: X-linked hydrocephalus: clinical heterogeneity at a single gene locus. Eur. J. Ped. 51 (1992) 515-518
-
(1992)
Eur. J. Ped.
, vol.51
, pp. 515-518
-
-
Serville, F.1
Lyonnet, S.2
Peter, A.3
-
15
-
-
0023226612
-
X-linked hydrocephalus
-
Willems, P. J., O. F. Brouwer, J. Dijkstra, J. Wilmink: X-linked hydrocephalus. Am. J. Med. Gen. 27 (1987) 921-928
-
(1987)
Am. J. Med. Gen.
, vol.27
, pp. 921-928
-
-
Willems, P.J.1
Brouwer, O.F.2
Dijkstra, J.3
Wilmink, J.4
-
16
-
-
0025104133
-
Assignment of X-linked hydrocephalus to Xq28 by linkage analysis
-
Willems, P. J., I. Dijkstra, B. J. van der Auwera et al.: Assignment of X-linked hydrocephalus to Xq28 by linkage analysis. Genomics 8 (1990) 367-370
-
(1990)
Genomics
, vol.8
, pp. 367-370
-
-
Willems, P.J.1
Dijkstra, I.2
Van Der Auwera, B.J.3
-
17
-
-
0027183109
-
A duplication in the L1CAM gene associated with X-linked hydrocephalus
-
Van Camp, G., P. Vits, P. Coucke, C. Schrander-Stumpel, J. Darby, J. Holden, A. Munnich, P. J. Willems: A duplication in the L1CAM gene associated with X-linked hydrocephalus. Nature genetics 4 (1993) 421-425
-
(1993)
Nature Genetics
, vol.4
, pp. 421-425
-
-
Van Camp, G.1
Vits, P.2
Coucke, P.3
Schrander-Stumpel, C.4
Darby, J.5
Holden, J.6
Munnich, A.7
Willems, P.J.8
-
18
-
-
0023253873
-
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis
-
Varadi, V., K. Csécsei, G. T. Szeifert et al.: Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis. J. Med. Gen. 24 (1987) 207-209
-
(1987)
J. Med. Gen.
, vol.24
, pp. 207-209
-
-
Varadi, V.1
Csécsei, K.2
Szeifert, G.T.3
|