The p63 gene in EEC and other syndromes

di Brunner, H, Hamel, B, van Bokhoven, H
Pubblicazione 2002

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

di Barrow, L, van Bokhoven, H, Daack-Hirsch, S, Andersen, T, van Beersum, S E C, Gorlin, R, Murray, J
Pubblicazione 2002

MicroRNA networks direct neuronal development and plasticity

di Olde Loohuis, N. F. M., Kos, A., Martens, G. J. M., Van Bokhoven, H., Nadif Kasri, N., Aschrafi, A.
Pubblicazione 2011

Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus

di Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R
Pubblicato in Transl Psychiatry (2016)

Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus

di Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R
Pubblicato in Transl Psychiatry (2015)

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

di BONGERS, E., VAN BOKHOVEN, H., VAN THIENEN, M.-N., KOOYMAN, M., VAN BEERSUM, S. E C, BOETES, C., KNOERS, N., HAMEL, B.
Pubblicazione 2001

ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis

di Shalom-Feuerstein, R, Lena, A M, Zhou, H, De La Forest Divonne, S, Van Bokhoven, H, Candi, E, Melino, G, Aberdam, D
Pubblicazione 2011

Tooth agenesis and orofacial clefting: genetic brothers in arms?

di Phan, M., Conte, F., Khandelwal, K. D., Ockeloen, C. W., Bartzela, T., Kleefstra, T., van Bokhoven, H., Rubini, M., Zhou, H., Carels, C. E. L.
Pubblicato in Hum Genet (2016)

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation

di Veltman, J, Yntema, H, Lugtenberg, D, Arts, H, Briault, S, Huys, E, Osoegawa, K, de Jong, P, Brunner, H, v Geurts, van Bokhoven, H, Schoenmakers, E
Pubblicazione 2004

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10

di van der Zwaag, B, Verzijl, H, d Beltran-Valero, Schuster, V, van Bokhoven, H, Kremer, H, van Reen, M, Wichers, G, Brunner, H, Padberg, G
Pubblicazione 2002

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

di Yntema, H G, Hamel, B C, Smits, A P, van Roosmalen, T, van den Helm, B, Kremer, H, Ropers, H H, Smeets, D F, van Bokhoven, H
Pubblicazione 1998

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

di d Beltran-Valero, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H
Pubblicazione 2003

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

di d Beltran-Valero, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W, Brunner, H, van Bokhoven, H, Brockington, M, Muntoni, F
Pubblicazione 2004

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

di Kleefstra, T, Yntema, H, Oudakker, A, Banning, M, Kalscheuer, V, Chelly, J, Moraine, C, Ropers, H, Fryns, J, Janssen, I, Sistermans, E, Nillesen, W, de Vries, L B A, Hamel, B, van Bokhoven, H
Pubblicazione 2004

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

di Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh, T, van Bokhoven, H, Fryns, J, Chelly, J, Ropers, H, Moraine, C, Hamel, B, Briault, S
Pubblicazione 2005

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

di van Bokhoven, H, Jung, M, Smits, A P, van Beersum, S, Rüschendorf, F, van Steensel, M, Veenstra, M, Tuerlings, J H, Mariman, E C, Brunner, H G, Wienker, T F, Reis, A, Ropers, H H, Hamel, B C
Pubblicazione 1999

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

di van Reeuwijk, J, Janssen, M, van den Elzen, C, d Beltran-Valero, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M, Verrips, A, Walsh, C, Barth, P, Brunner, H, van Bokhoven, H
Pubblicazione 2005

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

di Kleefstra, T, Smidt, M, Banning, M, Oudakker, A, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E, Hamel, B, de Bruijn, D, Fryns, J, Yntema, H, Brunner, H, de Vries, B B A, van Bokhoven, H
Pubblicazione 2005

Periventricular Heterotopia in Common Microdeletion Syndromes

di van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.
Pubblicazione 2010

Elevated microRNA-181c and microRNA-30d levels in the enlarged amygdala of the valproic acid rat model of autism

di Olde Loohuis, N.F.M., Kole, K., Glennon, J.C., Karel, P., Van der Borg, G., Van Gemert, Y., Van den Bosch, D., Meinhardt, J., Kos, A., Shahabipour, F., Tiesinga, P., van Bokhoven, H., Martens, G.J.M., Kaplan, B.B., Homberg, J.R., Aschrafi, A.
Pubblicato in Neurobiol Dis (2015)