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22 results on '"Gijsbers, Antoinet"'

3. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

Author

Doornbos, Marianne, Sikkema-Raddatz, Birgit, Ruijvenkamp, Claudia A.L., Dijkhuizen, Trijnie, Bijlsma, Emilia K., Gijsbers, Antoinet C.J., Hilhorst-Hofstee, Yvonne, Hordijk, Roel, Verbruggen, Krijn T., Kerstjens-Frederikse, W.S. (Mieke), van Essen, Ton, Kok, Klaas, van Silfhout, Anneke T., Breuning, Martijn, and van Ravenswaaij-Arts, Conny M.A.

Published
2009
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6. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Author

Bruder, Carl E.G., Piotrowski, Arkadiusz, Gijsbers, Antoinet A.C.J., Andersson, Robin, Erickson, Stephen, de Stahl, Teresita Diaz, Menzel, Uwe, Sandgren, Johanna, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Tiwari, Hemant, Allison, David B., Komorowski, Jan, Boomsma, Dorret I., Pedersen, Nancy L., Wirdedeldt, Karin, and Dumanski, Jan P.

Subjects
Twins -- Genetic aspects, Twins -- Research, Single nucleotide polymorphisms -- Research, Somatic cells -- Research, Chromosome replication -- Analysis, Biological sciences
Abstract

Several genome-wide analyses are conducted to study the DNA copy-number variations (CNVs) in the phenotypically concordant or discordant monozygotic twins. The twins are found to exhibit different CNV profiles, hence giving a better insight into their disease-predisposition loci.

Published
2008

7. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Author

Santen, Gijs W E, Sun, Yu, Gijsbers, Antoinet C J, Carré, Aurore, Holvoet, Maureen, Haeringen, Arie van, Lesnik Oberstein, Saskia A J, Tomoda, Akemi, Mabe, Hiroyo, Polak, Michel, Devriendt, Koenraad, Ruivenkamp, Claudia A L, and Bijlsma, Emilia K

Published
2012
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11. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Author

Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A. L., Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C. J., Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G., Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte, Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A. L., Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C. J., Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G., Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, and Thuresson, Ann-Charlotte

Abstract

With the clinical implementation of genomic microarrays, the detection of cryptic unbalanced rearrangements in patients with syndromic developmental delay has improved considerably. Here we report the molecular karyotyping and phenotypic description of six new unrelated patients with partially overlapping microdeletions at 10p12.31p11.21 ranging from 1.0 to 10.6 Mb. The smallest region of overlap is 306 kb, which includes WAC gene, known to be associated with microtubule function and to have a role in cell division. Another patient has previously been described with a 10Mb deletion, partially overlapping with our six patients. All seven patients have developmental delay and a majority of the patients have abnormal behaviour and dysmorphic features, including bulbous nasal tip, deep set eyes, synophrys/thick eyebrows and full cheeks, whereas other features varied. All patients also displayed various visual impairments and six out of seven patients had cardiac malformations. Taken together with the previously reported patient, our study suggests that the detected deletions may represent a new contiguous gene syndrome caused by dosage-sensitive genes that predispose to developmental delay.

Published
2011
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12. Copy Number Variants in Short Children Born Small for Gestational Age

Author

Wit, Jan M., primary, van Duyvenvoorde, Hermine A., additional, van Klinken, Jan B., additional, Caliebe, Janina, additional, Bosch, Cathy A.J., additional, Lui, Julian C., additional, Gijsbers, Antoinet C.J., additional, Bakker, Egbert, additional, Breuning, Martijn H., additional, Oostdijk, Wilma, additional, Losekoot, Monique, additional, Baron, Jeffrey, additional, Binder, Gerhard, additional, Ranke, Michael B., additional, and Ruivenkamp, Claudia A.L., additional

Published
2014
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13. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

Author

Bruder, Carl E G, Piotrowski, Arkadiusz, Gijsbers, Antoinet A C J, Andersson, Robin, Erickson, Stephen, de Ståhl, Teresita Diaz, Menzel, Uwe, Sandgren, Johanna, von Tell, Desiree, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Partridge, E Christopher, Tiwari, Hemant, Allison, David B, Komorowski, Jan, van Ommen, Gert-Jan B, Boomsma, Dorret I, Pedersen, Nancy L, den Dunnen, Johan T, Wirdefeldt, Karin, Dumanski, Jan P, Bruder, Carl E G, Piotrowski, Arkadiusz, Gijsbers, Antoinet A C J, Andersson, Robin, Erickson, Stephen, de Ståhl, Teresita Diaz, Menzel, Uwe, Sandgren, Johanna, von Tell, Desiree, Poplawski, Andrzej, Crowley, Michael, Crasto, Chiquito, Partridge, E Christopher, Tiwari, Hemant, Allison, David B, Komorowski, Jan, van Ommen, Gert-Jan B, Boomsma, Dorret I, Pedersen, Nancy L, den Dunnen, Johan T, Wirdefeldt, Karin, and Dumanski, Jan P

Abstract

The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.

Published
2008
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14. Copy number variants in patients with short stature

Author

van Duyvenvoorde, Hermine A, primary, Lui, Julian C, additional, Kant, Sarina G, additional, Oostdijk, Wilma, additional, Gijsbers, Antoinet CJ, additional, Hoffer, Mariëtte JV, additional, Karperien, Marcel, additional, Walenkamp, Marie JE, additional, Noordam, Cees, additional, Voorhoeve, Paul G, additional, Mericq, Verónica, additional, Pereira, Alberto M, additional, Claahsen-van de Grinten, Hedi L, additional, van Gool, Sandy A, additional, Breuning, Martijn H, additional, Losekoot, Monique, additional, Baron, Jeffrey, additional, Ruivenkamp, Claudia AL, additional, and Wit, Jan M, additional

Published
2013
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16. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

Author

Santen, Gijs W E, primary, Sun, Yu, additional, Gijsbers, Antoinet C J, additional, Carré, Aurore, additional, Holvoet, Maureen, additional, Haeringen, Arie van, additional, Lesnik Oberstein, Saskia A J, additional, Tomoda, Akemi, additional, Mabe, Hiroyo, additional, Polak, Michel, additional, Devriendt, Koenraad, additional, Ruivenkamp, Claudia A L, additional, and Bijlsma, Emilia K, additional

Published
2012
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17. Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Author

Wentzel, Christian, primary, Rajcan-Separovic, Evica, additional, Ruivenkamp, Claudia A L, additional, Chantot-Bastaraud, Sandra, additional, Metay, Corinne, additional, Andrieux, Joris, additional, Annerén, Göran, additional, Gijsbers, Antoinet C J, additional, Druart, Luc, additional, Hyon, Capucine, additional, Portnoi, Marie-France, additional, Stattin, Eva-Lena, additional, Vincent-Delorme, Catherine, additional, Kant, Sarina G, additional, Steinraths, Michelle, additional, Marlin, Sandrine, additional, Giurgea, Irina, additional, and Thuresson, Ann-Charlotte, additional

Published
2011
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20. A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Author

Gijsbers, Antoinet CJ, primary, Lew, Janet YK, additional, Bosch, Cathy AJ, additional, Schuurs-Hoeijmakers, Janneke HM, additional, van Haeringen, Arie, additional, den Hollander, Nicolette S, additional, Kant, Sarina G, additional, Bijlsma, Emilia K, additional, Breuning, Martijn H, additional, Bakker, Egbert, additional, and Ruivenkamp, Claudia AL, additional

Published
2009
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22. Copy number variants in patients with short stature.

Author

van Duyvenvoorde, Hermine A, Lui, Julian C, Kant, Sarina G, Oostdijk, Wilma, Gijsbers, Antoinet CJ, Hoffer, Mariëtte JV, Karperien, Marcel, Walenkamp, Marie JE, Noordam, Cees, Voorhoeve, Paul G, Mericq, Verónica, Pereira, Alberto M, Claahsen-van de Grinten, Hedi L, van Gool, Sandy A, Breuning, Martijn H, Losekoot, Monique, Baron, Jeffrey, Ruivenkamp, Claudia AL, and Wit, Jan M

Subjects
SHORT stature, DNA copy number variations, HUMAN genetic variation, GENOMICS, GENE expression, BIOINFORMATICS
Abstract

Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes. [ABSTRACT FROM AUTHOR]

Published
2014
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