The p63 gene in EEC and other syndromes

по Brunner, H, Hamel, B, van Bokhoven, H
Опубликовано 2002

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

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

MicroRNA networks direct neuronal development and plasticity

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

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

по Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R
Опубликовано в: Transl Psychiatry (2016)

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

по Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R
Опубликовано в: 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

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

ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis

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

Tooth agenesis and orofacial clefting: genetic brothers in arms?

по 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.
Опубликовано в: Hum Genet (2016)

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

по 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
Опубликовано 2004

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

по 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
Опубликовано 2002

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

по 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
Опубликовано 1998

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

по 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
Опубликовано 2003

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

по 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
Опубликовано 2004

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

по 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
Опубликовано 2004

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

по 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
Опубликовано 2005

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

по 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
Опубликовано 1999

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

по 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
Опубликовано 2005

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

по 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
Опубликовано 2005

Periventricular Heterotopia in Common Microdeletion Syndromes

по 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.
Опубликовано 2010

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

по 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.
Опубликовано в: Neurobiol Dis (2015)