A developmental and genetic classification for malformations of cortical development von BARKOVICH, A. J, KUZNIECKY, R. I, JACKSON, G. D, GUERRINI, R, DOBYNS, W. B

Volltext

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype von 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

Volltext

Classification system for malformations of cortical development: Update 2001 von BARKOVICH, A. J, KUZNIECKY, R. I, JACKSON, G. D, GUERRINI, R, DOBYNS, W. B

Volltext

Ultra-high-field MR imaging in polymicrogyria and epilepsy von De Ciantis, A, Barkovich, A J, Cosottini, M, Barba, C, Montanaro, D, Costagli, M, Tosetti, M, Biagi, L, Dobyns, W B, Guerrini, R

Volltext

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations von Parrini, E., Ramazzotti, A., Dobyns, W. B., Mei, D., Moro, F., Veggiotti, P., Marini, C., Brilstra, E. H., Bernardina, B. Dalla, Goodwin, L., Bodell, A., Jones, M. C., Nangeroni, M., Palmeri, S., Said, E., Sander, J. W., Striano, P., Takahashi, Y., Van Maldergem, L., Leonardi, G., Wright, M., Walsh, C. A., Guerrini, R.

Volltext

Malformations of cortical development and epilepsy von Barkovich, A James, Dobyns, William B, Guerrini, Renzo

Volltext

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype von Beltrán-Valero de Bernabé, D, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W B, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H G

Volltext

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis von 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, Barkovich, M J, Whitehead, M T, Mankad, K

Volltext

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) von Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A

Volltext

The molecular landscape of ASPM mutations in primary microcephaly von Nicholas, A K, Swanson, E A, Cox, J J, Karbani, G, Malik, S, Springell, K, Hampshire, D, Ahmed, M, Bond, J, Di Benedetto, D, Fichera, M, Romano, C, Dobyns, W B, Woods, C G

Volltext

ACTA2 -Related Dysgyria: An Under-Recognized Malformation of Cortical Development von 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

Volltext

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome von Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F

Volltext

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus von GUERRINI, R, MORO, F, HAYASAKA, K, KANG, U. J, DAS, S, DOBYNS, W. B, KATO, M, BARKOVICH, A. J, SHIIHARA, T, MCSHANE, M. A, HURST, J, LOI, M, TOHYAMA, J, NORCI, V

Volltext

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis von Kortüm, Fanny, Das, Soma, Flindt, Max, Morris-Rosendahl, Deborah J, Stefanova, Irina, Goldstein, Amy, Horn, Denise, Klopocki, Eva, Kluger, Gerhard, Martin, Peter, Rauch, Anita, Roumer, Agathe, Saitta, Sulagna, Walsh, Laurence E, Wieczorek, Dagmar, Uyanik, Gökhan, Kutsche, Kerstin, Dobyns, William B

Volltext

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function von Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

Volltext

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia von GUERRINI, R, MEI, D, MORO, F, DOBYNS, W. B, PARRINI, E, SISODIYA, S, SICCA, F, HARDING, B, TAKAHASHI, Y, DORN, T, YOSHIDA, A, CAMPISTOL, J, KRÄMER, G

Volltext

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia von SICCA, F, KELEMEN, A, GENTON, P, DAS, S, MEI, D, MORO, F, DOBYNS, W. B, GUERRINI, R

Volltext

Comment on "The Brain of LB1, Homo floresiensis" von Martin, R D, Maclarnon, A M, Phillips, J L, Dussubieux, L, Williams, P R, Dobyns, W B

Volltext

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia von Philip, N, Chabrol, B, Lossi, A-M, Cardoso, C, Guerrini, R, Dobyns, W B, Raybaud, C, Villard, L

Volltext

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome von Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Al Swaid, A, Al Shahwan, S, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A

Volltext