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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Published in:
Pediatric Radiology, 2000, v. 30, n. 11, p. 748, doi. 10.1007/s002470000312
By:
- Poussaint, T. Y.;
- Fox, J. W.;
- Dobyns, W. B.;
- Radtke, R.;
- Scheffer, I. E.;
- Berkovic, S. F.;
- Barnes, P. D.;
- Huttenlocher, P. R.;
- Walsh, C. A.
Publication type:
Article
Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
Published in:
Genes, Brain & Behavior, 2007, v. 6, n. 6, p. 503, doi. 10.1111/j.1601-183X.2006.00277.x
By:
- Kumar, R. A.;
- Leach, S.;
- Bonaguro, R.;
- Chen, J.;
- Yokom, D. W.;
- Abrahams, B. S.;
- Seaver, L.;
- Schwartz, C. E.;
- Dobyns, W.;
- Brooks-Wilson, A.;
- Simpson, E. M.
Publication type:
Article
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
Published in:
American Journal of Neuroradiology, 2023, v. 44, n. 10, p. 1201, doi. 10.3174/ajnr.A7967
By:
- Alves, C. A. P. F.;
- Sidpra, J.;
- Manteghinejad, A.;
- Sudhakar, S.;
- Massey, F. V.;
- Aldinger, K. A.;
- Haldipur, P.;
- Lucato, L. T.;
- Ferraciolli, S. F.;
- Teixeira, S. R.;
- Öztekin, Ö.;
- Bhattacharya, D.;
- Taranath, A.;
- Prabhu, S.P.;
- Mirsky, D. M.;
- Andronikou, S.;
- Millen, K. J.;
- Barkovich, A. J.;
- Boltshauser, E.;
- Dobyns, W. B.
Publication type:
Article
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
Published in:
American Journal of Neuroradiology, 2022, v. 43, n. 10, p. 1488, doi. 10.3174/ajnr.A7659
By:
- Whitehead, M. T.;
- Barkovich, M. J.;
- Sidpra, J.;
- Alves, C. A.;
- Mirsky, D. M.;
- Öztekin, Ö.;
- Bhattacharya, D.;
- Lucato, L. T.;
- Sudhakar, S.;
- Taranath, A.;
- Andronikou, S.;
- Prabhu, S. P.;
- Aldinger, K. A.;
- Haldipur, P.;
- Millen, K. J.;
- Barkovich, A. J.;
- Boltshauser, E.;
- Dobyns, W. B.;
- Mankad, K.
Publication type:
Article
ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development.
Published in:
American Journal of Neuroradiology, 2022, v. 43, n. 1, p. 146, doi. 10.3174/ajnr.A7364
By:
- Subramanian, S.;
- Biswas, A.;
- Alves, C. A. P. F.;
- Sudhakar, S. V.;
- Shekdar, K. V.;
- Krishnan, P.;
- Shroff, M.;
- Taranath, A.;
- Arrigoni, F.;
- Aldinger, K. A.;
- Leventer, R. J.;
- Dobyns, W. B.;
- Mankad, K.
Publication type:
Article
Variable phenotype of rapid-onset dystonia-parkinsonism.
Published in:
Movement Disorders, 1996, v. 11, n. 2, p. 151, doi. 10.1002/mds.870110206
By:
- Brashear, A.;
- Farlow, M. R.;
- Butler, I. J.;
- Kasarskis, E. J.;
- Dobyns, W. B.
Publication type:
Article
24234 Development of a computerized neurocognitive test of interhemispheric transfer for use in pediatric settings.
Published in:
2021
By:
- Pierpont, E.I.;
- Lim, K.;
- Georgieff, M.;
- Dobyns, W.;
- Luciana, M.;
- Wozniak, J.
Publication type:
Abstract
OP14.08: Prenatal diagnosis of a new cobblestone malformation complex disorder: Walker-Warburg syndrome associated with tectocerebellar dysraphia.
Published in:
Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 94, doi. 10.1002/uog.17828
By:
- Leibovitz, Z.;
- Mandel, H.;
- Falik-Zaccai, T.;
- Ben Harouch, S.;
- Savitzki, D.;
- Bakry, H.;
- Sagie, S.;
- Haratz, K.K.;
- Tamarkin, M.;
- Lev, D.;
- Dobyns, W.;
- Lerman-Sagie, T.;
- Gindes, L.
Publication type:
Article
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Published in:
1993
By:
- Dobyns, W B;
- Reiner, O;
- Carrozzo, R;
- Ledbetter, D H
Publication type:
journal article
Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment.
Published in:
Annals of Neurology, 2000, v. 48, n. 1, p. 39, doi. 10.1002/1531-8249(200007)48:1<39::AID-ANA7>3.0.CO;2-X
By:
- Guerreiro, M. M.;
- Andermann, E.;
- Guerrini, R.;
- Dobyns, W. B.;
- Kuzniecky, R.;
- Silver, K.;
- Van Bogaert, P.;
- Gillain, C.;
- David, P.;
- Ambrosetto, G.;
- Rosati, A.;
- Bartolomei, F.;
- Parmeggiani, A.;
- Paetau, R.;
- Salonen, O.;
- Ignatius, J.;
- Borgatti, R.;
- Zucca, C.;
- Bastos, A. C.;
- Palmini, A.
Publication type:
Article
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Published in:
1999
By:
- Kramer, Patricia L.;
- Mineta, Mari;
- Klein, Christine;
- Schilling, Karla;
- De Leon, Deborah;
- Farlow, Martin R.;
- Breakefield, Xandra O.;
- Bressman, Susan B.;
- Dobyns, William B.;
- Ozelius, Laurie J.;
- Brashear, Allison;
- Kramer, P L;
- Mineta, M;
- Klein, C;
- Schilling, K;
- de Leon, D;
- Farlow, M R;
- Breakefield, X O;
- Bressman, S B;
- Dobyns, W B
Publication type:
journal article
Cerebellar malformations in mice and humans illuminate novel developmental principles
Published in:
2010
By:
- Aldinger, K.;
- Blank, M.;
- Lehmann, O.;
- Dobyns, W.;
- Millen, K.
Publication type:
Abstract
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
Published in:
Molecular Syndromology, 2012, v. 3, n. 3, p. 102, doi. 10.1159/000342008
By:
- Traylor, R. N.;
- Dobyns, W. B.;
- Rosenfeld, J. A.;
- Wheeler, P.;
- Spence, J. E.;
- Bandholz, A. M.;
- Bawle, E. V.;
- Carmany, E. P.;
- Powell, C. M.;
- Hudson, B.;
- Schultz, R. A.;
- Shaffer, L. G.;
- Ballif, B. C.
Publication type:
Article

Found: 13