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16 results on '"Devriendt, K."'

1. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Author

Mefford, H., Sharp, A., Baker, C., Itsara, A., Jiang, Z., Huang, S., de Ravel, T., Norga, K., Mercer, C., Collins, A., Baralle, D., Crolia, J., Maloney, V., Devriendt, K., Bongers, E., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Mehta, S., Park, S., Simonic, I., Clayton-Smoth, J., Gaunt, L., Male, A., Hennekam, R., Nik-Zainal, S., Woods, C., Firth, H., Parkin, G., Fichera, M., Reitano, S., Schwerzmann, M., Conrad, B., Broomer, A., Casuga, I., Li, K., and Lo Guidice, M.

Subjects
Human chromosomes -- Research, Human genome -- Research, Human genome -- Health aspects, Phenotype -- Research
Abstract

A study was conducted to determine the effects of duplications or deletions in the human genome that could be a cause or predispose an individual to disease. Results revealed that recurrent molecular lesions when noticed should be further investigated on the basis of genotype rather than phenotype.

Published
2008

2. Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Author

Dimitrov, B.I., de Ravel, T., Van Driessche, J., de Die-Smulders, C., Toutain, A., Vermeesch, J.R., Fryns, J.P., Devriendt, K., and Debeer, P.

Subjects
Chromosome abnormalities -- Identification and classification, Chromosome abnormalities -- Research, Comparative genomic hybridization -- Usage, Bones -- Abnormalities, Bones -- Genetic aspects, Bones -- Research, Health
Published
2010

3. 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

Author

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., and Vermeesch, J.R.

Subjects
Mental retardation -- Genetic aspects, Mental retardation -- Risk factors, Mental retardation -- Research, Birth defects -- Genetic aspects, Birth defects -- Risk factors, Birth defects -- Research, Chromosome deletion -- Research, Health
Published
2009

5. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhron syndrome using high resolution array comparative genome hybridisation (CGH)

Author

Maas, N.M.C., Van Buggenhout, G., Hannes, F., Theinpont, B., Sanlaville, D., Kok, K., Midro, A., Andrieux, J., Anderlid, B.-M., Schoumans, J., Hordijk, R., Devriendt, K., Fryns, J.-P., and Vermeesch, J.R.

Subjects
Chromosome deletion -- Analysis, DNA microarrays -- Methods, DNA microarrays -- Research, Genotype -- Analysis, Phenotype -- Analysis, Health
Published
2008

6. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Author

Menten, B., Maas, N., Thienpont, B., Buysse, K., Vandesompele, J., Melotte, C., de Ravel, T., Van Vooren, S., Balikova, I., Backx, L., Janssens, S., De Paepe, A., De Moor, B., Moreau, Y., Marynen, P., Fryns, J.P., Mortier, G., Devriendt, K., Speleman, F., and Vermeesch, J.R.

Subjects
Chromosome abnormalities -- Research, Chromosome abnormalities -- Complications and side effects, Mental retardation -- Causes of, Mental retardation -- Genetic aspects, Birth defects -- Causes of, Birth defects -- Genetic aspects, Health
Published
2006

10. The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. (Letter to JMG)

Author

Castermans, D., Wilquet, V., Parthoens, E., Huysmans, C., Steyaert, J., Swinnen, L., Fryns, J-P., Ven, W. Van de, and Devriendt, K.

Subjects
Gene mutations -- Physiological aspects -- Case studies, Autistic children -- Case studies -- Physiological aspects, Autism -- Case studies -- Genetic aspects -- Physiological aspects, Health
Abstract

Autism is a developmental disorder characterised by a triad of clearly abnormal or impaired development in social interaction and communication, and a markedly restricted repertoire of activity and interests. (1) [...]

Published
2003

11. Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation

Author

De Baere, E., Dixon, M., Small, K., Jabs, E., Leroy, B., Devriendt, K., Gillerot, Y., Mortier, G., Meire, F., Van Maldergem, L., Hjalgrim, H., Huang, S., Liebaers, I., De Paepe, A., Fellous, M., Veitia, R., and Messiaen, L.

Subjects
Gene mutations -- Research, Blepharoptosis -- Genetic aspects, Genital diseases, Female -- Genetic aspects, Genetic transcription -- Research, Genetic disorders -- Research, Biological sciences
Published
2001

13. Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

Author

Ludecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Gro[Beta], S., von Holtum, D., Hirche, H., Abramowicz, M. J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T. H. J., Greiwe, M., Hamm, H., Hennekam, R. C. M., Hinkel, G. K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A. T., Moog, U., Nagai, T., Niikawa, N., Orstavik, K. H., Plochl, E., Seitz, C., Schmidtke, J., Tranebjaerg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., and Horsthemke, B.

Subjects
Genetic disorders -- Physiological aspects, Genotype -- Analysis, Phenotype -- Analysis, Mutation (Biology) -- Analysis, Body, Human -- Abnormalities, Biological sciences
Published
2001

14. Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype

Author

Witters, I., Legius, E., Devriendt, K., Moerman, P., Schoubroeck, D. Van, Assche, A. Van, and Fryns, J-P

Subjects
Diseases -- Genetic aspects -- Belgium, Chromosomes -- Abnormalities -- Genetic aspects, Amniocentesis -- Evaluation, Health
Abstract

Measurement of maternal serum alphafetoprotein (ms AFP), human chorionic gonadotrophin (ms hCG), and unconjugated oestriol (u[E.sub.3]) at the beginning of the second trimester of pregnancy is a well established screening [...]

Published
2001

15. Right aortic arch with vascular ring in one monozygotic twin

Author

Sondakh, A., Daenen, W., Gewillig, M., Devriendt, K., and Meyns, B.

Subjects
Health
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.jtcvs.2005.01.014 Byline: A. Sondakh (a), W. Daenen (a), M. Gewillig (b), K. Devriendt (c), B. Meyns (a) Author Affiliation: (a) Department of Cardiac Surgery, University Hospital Leuven, Leuven, Belgium (b) Department of Paediatric Cardiology, University Hospital Leuven, Leuven, Belgium (c) Department of Human Genetics, University Hospital Leuven, Leuven, Belgium Article History: Received 7 January 2005; Accepted 11 January 2005

Published
2005

16. Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome. (Letter to JMG)

Author

Vogels, A., Matthijs, G., Legius, E., Devriendt, K., and Fryns, J-P

Subjects
Prader-Willi syndrome -- Genetic aspects, Psychoses -- Genetic aspects, Health, Genetic aspects
Abstract

In the 16 January 2002 issue of the Lancet, Boer et al (1) reported that psychotic illness in Prader-Willi syndrome (PWS) is associated with chromosome 15 maternal uniparental disomy. Here, [...]

Published
2003

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