-
1
-
-
0017832764
-
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
-
Schinzel A., Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1978, 1:361-375.
-
(1978)
Am J Med Genet
, vol.1
, pp. 361-375
-
-
Schinzel, A.1
Giedion, A.2
-
2
-
-
33947369492
-
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome
-
Beschorner R., Wehrmann M., Ernemann U., Bonin M., Horber V., Oehl-Jaschkowitz B., et al. Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. Acta Neuropathol 2007, 113:339-346.
-
(2007)
Acta Neuropathol
, vol.113
, pp. 339-346
-
-
Beschorner, R.1
Wehrmann, M.2
Ernemann, U.3
Bonin, M.4
Horber, V.5
Oehl-Jaschkowitz, B.6
-
3
-
-
77952888699
-
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
-
Hoischen A., van Bon B.W., Gilissen C., Arts P., van Lier B., Steehouwer M., et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010, 42:483-485.
-
(2010)
Nat Genet
, vol.42
, pp. 483-485
-
-
Hoischen, A.1
van Bon, B.W.2
Gilissen, C.3
Arts, P.4
van Lier, B.5
Steehouwer, M.6
-
4
-
-
0037952653
-
Schinze-Giedion syndrome: a further cause of West syndrome
-
Grosso S., Pagano C., Cioni M., Di Bartolo R.M., Morgese G., Balestri P. Schinze-Giedion syndrome: a further cause of West syndrome. Brain Dev 2003, 25:294-298.
-
(2003)
Brain Dev
, vol.25
, pp. 294-298
-
-
Grosso, S.1
Pagano, C.2
Cioni, M.3
Di Bartolo, R.M.4
Morgese, G.5
Balestri, P.6
-
5
-
-
0033590703
-
Schinzel-Giedion syndrome: evidence for a neurodegenerative process
-
Shah A.M., Smith M.F., Griffiths P.D., Quarrell O.W. Schinzel-Giedion syndrome: evidence for a neurodegenerative process. Am J Med Genet 1999, 82:344-347.
-
(1999)
Am J Med Genet
, vol.82
, pp. 344-347
-
-
Shah, A.M.1
Smith, M.F.2
Griffiths, P.D.3
Quarrell, O.W.4
-
6
-
-
18344374855
-
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases
-
Minn D., Christmann D., De Saint-Martin A., Alembik Y., Eliot M., Mack G., et al. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. Am J Med Genet 2002, 109:211-217.
-
(2002)
Am J Med Genet
, vol.109
, pp. 211-217
-
-
Minn, D.1
Christmann, D.2
De Saint-Martin, A.3
Alembik, Y.4
Eliot, M.5
Mack, G.6
-
7
-
-
27744489845
-
Diffusion-weighted MR imaging in leukodystrophies
-
Patay Z. Diffusion-weighted MR imaging in leukodystrophies. Eur Radiol 2005, 15:2284-2303.
-
(2005)
Eur Radiol
, vol.15
, pp. 2284-2303
-
-
Patay, Z.1
-
8
-
-
16644376107
-
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency
-
Tada H., Takanashi J., Barkovich A.J., Yamamoto S., Kohno Y. Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. AJNR Am J Neuroradiol 2004, 25:1843-1845.
-
(2004)
AJNR Am J Neuroradiol
, vol.25
, pp. 1843-1845
-
-
Tada, H.1
Takanashi, J.2
Barkovich, A.J.3
Yamamoto, S.4
Kohno, Y.5
-
9
-
-
22544456859
-
Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter
-
Kono K., Okano Y., Nakayama K., Hase Y., Minamikawa S., Ozawa N., et al. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology 2005, 236:630-636.
-
(2005)
Radiology
, vol.236
, pp. 630-636
-
-
Kono, K.1
Okano, Y.2
Nakayama, K.3
Hase, Y.4
Minamikawa, S.5
Ozawa, N.6
-
10
-
-
0036942885
-
Van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings
-
Gelal F., Calli C., Apaydin M., Erdem G. Van der Knaap's leukoencephalopathy: report of five new cases with emphasis on diffusion-weighted MRI findings. Neuroradiology 2002, 44:625-630.
-
(2002)
Neuroradiology
, vol.44
, pp. 625-630
-
-
Gelal, F.1
Calli, C.2
Apaydin, M.3
Erdem, G.4
-
11
-
-
0017838452
-
The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases
-
Shuman R.M., Leech R.W., Scott C.R. The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases. Neurology 1978, 28:139-146.
-
(1978)
Neurology
, vol.28
, pp. 139-146
-
-
Shuman, R.M.1
Leech, R.W.2
Scott, C.R.3
-
12
-
-
77951656674
-
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study
-
Hirose M., Haginoya K., Yokoyama H., Tanaka S., Uematsu M., Kaneta T., et al. Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. Epilepsia 2010, 51:699-702.
-
(2010)
Epilepsia
, vol.51
, pp. 699-702
-
-
Hirose, M.1
Haginoya, K.2
Yokoyama, H.3
Tanaka, S.4
Uematsu, M.5
Kaneta, T.6
|