Search Results - "Van Buggenhout, G."

Risk-reducing mastectomy in BRCA carriers: survival is not the issue by Neven, P., Punie, K., Wildiers, H., Willers, N., Van Ongeval, C., Van Buggenhout, G., Legius, E.

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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator by 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.

“…The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret…”
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Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) by 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

“…The Wolf-Hirschhorn syndrome (WHS) is usually caused by terminal deletions of the short arm of chromosome 4 and is phenotypically defined by growth and mental…”
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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map by 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

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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 by 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

“…Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a…”
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Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder by van Rijn, S., Stockmann, L., van Buggenhout, G., van Ravenswaaij‐Arts, C., Swaab, H.

“…Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling…”
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Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development by Thuresson, A‐C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton Smith, J., Soussi Zander, C.

“…Duplications at 2q24.3 encompassing the voltage‐gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the…”
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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills by Denayer, A., Van Esch, H., de Ravel, T., Frijns, J.-P., Van Buggenhout, G., Vogels, A., Devriendt, K., Geutjens, J., Thiry, P., Swillen, A.

“…The 22q13 deletion syndrome is characterised by intellectual disability (ID), delayed or absent speech, autistic-like behaviour and minor, nonspecific…”
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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 by 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

“…The t(4;8)(p16;p23) is the second most common constitutional chromosomal translocation and is caused by an ectopic meiotic recombination between the olfactory…”
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Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood by Van Campenhout, S, Devriendt, K, Breckpot, J, Frijns, J-P, Peeters, H, Van Buggenhout, G, Van Esch, H, Maes, B, Swillen, A

“…Microduplication 22q11.2 is a recently discovered genomic disorder. So far, targeted research on the cognitive and behavioral characteristics of individuals…”
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The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients by 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.

“…We report four patients with an interstitial deletion of chromosome 2q32 → 2q33. They presented similar clinical findings including pre- and postnatal growth…”
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Chromosome healing of constitutional chromosome deletions studied by microdissection by Vermeesch, J R, Falzetti, D, Van Buggenhout, G, Fryns, J P, Marynen, P

“…Broken chromosomes are highly unstable and are subject to chromosome fusion or loss. As an exception, healing of human chromosomes occurs which can lead to…”
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Down-Turner syndrome: case report and review by Van Buggenhout, G J, Hamel, B C, Trommelen, J C, Mieloo, H, Smeets, D F

“…We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's…”
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4q35 deletion and 10p15 duplication associated with immunodeficiency by 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.

“…We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of…”
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Characteristic facial dysmorphism, arachnodactyly and mental retardation: another case by Van Buggenhout, G J, Akkermans-Scholten, A C, Hamel, B C

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Fountain syndrome: further delineation of the clinical syndrome and follow-up data by Van Buggenhout, G J, Van Ravenswaaij-Arts, C M, Renier, W O, Van de Wiel, M P, Trommelen, J C, Pijkels, E, Hamel, B C, Fryns, J P

“…We present five patients with the clinical diagnosis of Fountain's syndrome, an autosomal recessive entity with mental retardation, deafness, skeletal…”
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Adolescent with a schizophreniform disorder and recurrent 16p11.2 duplication by Castelein, L, Steyaert, J, Peeters, H, van Buggenhout, G

“…Genetic factors play an important role in the development of psychotic disorders. With increasing evidence, several rare copy number variants (cnvs) have been…”
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Abstract P5-09-05: Hereditary breast cancer beyond BRCA: Clinical and histopathological characteristics in patients with germline CHEK2, ATM, PALB2 and TP53-mutations by 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

“…Background The introduction of multi-gene panel testing in the diagnosis of hereditary breast and ovarian cancer (HBOC) has led to an important increase in the…”
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Down syndrome in a population of elderly mentally retarded patients: Genetic-diagnostic survey and implications for medical care by Van Buggenhout, G.J.C.M., Trommelen, J.C.M., Schoenmaker, A., De Bal, C., Verbeek, J.J.M.C., Smeets, D.F.C.M., Ropers, H.H., Devriendt, K., Hamel, B.C.J., Fryns, J.P.

“…Ninety‐six adults with Down syndrome (DS) from an institutional setting of 591 mentally retarded were investigated systematically with respect to cytogenetic…”
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Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient by Lukusa, T, Van Buggenhout, G, Devriendt, K, Fryns, J P

“…We report on a 29-year-old male patient with an inverted 7(q35-qter) duplication diagnosed by combining cytogenetic and FISH studies. Traditional G-banding…”
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