Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator
Lumaka, A., Cosemans, N., Lulebo Mampasi, A., Mubungu, G., Mvuama, N., Lubala, T., Mbuyi‐Musanzayi, S., Breckpot, J., Holvoet, M., de Ravel, T., Van Buggenhout, G., Peeters, H., Donnai, D., Mutesa, L., Verloes, A., Lukusa Tshilobo, P., Devriendt, K.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
Van Buggenhout, G, Melotte, C, Dutta, B, Froyen, G, Van Hummelen, P, Marynen, P, Matthijs, G, de Ravel, T, Devriendt, K, Fryns, J P, Vermeesch, J R
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
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Journal Article
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder
van Rijn, S., Stockmann, L., van Buggenhout, G., van Ravenswaaij‐Arts, C., Swaab, H.
Published in Genes, brain and behavior (01.06.2014)
Published in Genes, brain and behavior (01.06.2014)
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Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development
Thuresson, A‐C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton Smith, J., Soussi Zander, C.
Published in Clinical genetics (01.01.2017)
Published in Clinical genetics (01.01.2017)
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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
Maas, N M C, Van Buggenhout, G, Hannes, F, Thienpont, B, Sanlaville, D, Kok, K, Midro, A, Andrieux, J, Anderlid, B-M, Schoumans, J, Hordijk, R, Devriendt, K, Fryns, J-P, Vermeesch, J R
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills
Denayer, A., Van Esch, H., de Ravel, T., Frijns, J.-P., Van Buggenhout, G., Vogels, A., Devriendt, K., Geutjens, J., Thiry, P., Swillen, A.
Published in Molecular syndromology (01.06.2012)
Published in Molecular syndromology (01.06.2012)
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The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random
Maas, N M C, Van Vooren, S, Hannes, F, Van Buggenhout, G, Mysliwiec, M, Moreau, Y, Fagan, K, Midro, A, Engiz, O, Balci, S, Parker, M J, Sznajer, Y, Devriendt, K, Fryns, J P, Vermeesch, J R
Published in Genetic counseling (01.01.2007)
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Published in Genetic counseling (01.01.2007)
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Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood
Van Campenhout, S, Devriendt, K, Breckpot, J, Frijns, J-P, Peeters, H, Van Buggenhout, G, Van Esch, H, Maes, B, Swillen, A
Published in Genetic counseling (01.01.2012)
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Published in Genetic counseling (01.01.2012)
Journal Article
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
Van Buggenhout, G., Van Ravenswaaij-Arts, C., MC Maas, N., Thoelen, R., Vogels, A., Smeets, Dominique, Salden, I., Matthijs, G., Fryns, J.-P., Vermeesch, J.R.
Published in European journal of medical genetics (01.07.2005)
Published in European journal of medical genetics (01.07.2005)
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Down-Turner syndrome: case report and review
Van Buggenhout, G J, Hamel, B C, Trommelen, J C, Mieloo, H, Smeets, D F
Published in Journal of medical genetics (01.10.1994)
Published in Journal of medical genetics (01.10.1994)
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4q35 deletion and 10p15 duplication associated with immunodeficiency
Cingoz, S., Bisgaard, A.M., Bache, I., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H.‐H., Maas, N., Van Buggenhout, G., Tommerup, N., Tümer, Z.
Published in American journal of medical genetics. Part A (15.10.2006)
Published in American journal of medical genetics. Part A (15.10.2006)
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Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication
Castelein, L, Steyaert, J, Peeters, H, van Buggenhout, G
Published in Tijdschrift voor psychiatrie (2019)
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Published in Tijdschrift voor psychiatrie (2019)
Journal Article
Abstract P5-09-05: Hereditary breast cancer beyond BRCA: Clinical and histopathological characteristics in patients with germline CHEK2, ATM, PALB2 and TP53-mutations
Hoste, G, D'Hoore, P, Legius, E, Van Buggenhout, G, Floris, G, Wildiers, H, Han, SN, Van Nieuwenhuysen, E, Berteloot, P, Smeets, A, Nevelsteen, I, Weltens, C, Janssen, H, Van Limbergen, E, Neven, P, Punie, K
Published in Cancer research (Chicago, Ill.) (15.02.2019)
Published in Cancer research (Chicago, Ill.) (15.02.2019)
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Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care
Van Buggenhout, G J, Trommelen, J C, Schoenmaker, A, De Bal, C, Verbeek, J J, Smeets, D F, Ropers, H H, Devriendt, K, Hamel, B C, Fryns, J P
Published in American journal of medical genetics (06.08.1999)
Published in American journal of medical genetics (06.08.1999)
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