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12 results on '"Tommerup, Niels"'

2. Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Author

Berryer, Martin H., Hamdan, Fadi F., Klitten, Laura L., Mller, Rikke S., Carmant, Lionel, Schwartzentruber, Jeremy, Patry, Lysanne, Dobrzeniecka, Sylvia, Rochefort, Daniel, Neugnot-Cerioli, Mathilde, Lacaille, Jean-Claude, Niu, Zhiyv, Eng, Christine M., Yang, Yaping, Palardy, Sylvain, Belhumeur, Céline, Rouleau, Guy A., Tommerup, Niels, Immken, LaDonna, Beauchamp, Miriam H., Patel, Gayle Simpson, Majewski, Jacek, Tarnopolsky, Mark A., Scheffzek, Klaus, Hjalgrim, Helle, Michaud, Jacques L., and Di Cristo, Graziella

Published
2013
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5. A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

Author

Kalscheuer, Vera M., Musante, Luciana, Fang, Cheng, Hoffmann, Kirsten, Fuchs, Celine, Carta, Eloisa, Deas, Emma, Venkateswarlu, Kanamarlapudi, Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Dalprà, Leda, Tzschach, Andreas, Selicorni, Angelo, Lüscher, Bernhard, Ropers, Hans-Hilger, Harvey, Kirsten, and Harvey, Robert J.

Published
2009
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7. Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Author

Kurtas, Nehir Edibe, primary, Xumerle, Luciano, additional, Leonardelli, Lorena, additional, Delledonne, Massimo, additional, Brusco, Alfredo, additional, Chrzanowska, Krystyna, additional, Schinzel, Albert, additional, Larizza, Daniela, additional, Guerneri, Silvana, additional, Natacci, Federica, additional, Bonaglia, Maria Clara, additional, Reho, Paolo, additional, Manolakos, Emmanouil, additional, Mattina, Teresa, additional, Soli, Fiorenza, additional, Provenzano, Aldesia, additional, Al-Rikabi, Ahmed H., additional, Errichiello, Edoardo, additional, Nazaryan-Petersen, Lusine, additional, Giglio, Sabrina, additional, Tommerup, Niels, additional, Liehr, Thomas, additional, and Zuffardi, Orsetta, additional

Published
2018
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8. Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Author

Slamova, Zuzana, primary, Nazaryan-Petersen, Lusine, additional, Mehrjouy, Mana M., additional, Drabova, Jana, additional, Hancarova, Miroslava, additional, Marikova, Tatana, additional, Novotna, Drahuse, additional, Vlckova, Marketa, additional, Vlckova, Zdenka, additional, Bak, Mads, additional, Zemanova, Zuzana, additional, Tommerup, Niels, additional, and Sedlacek, Zdenek, additional

Published
2018
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10. Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Author

Berryer, Martin H., primary, Hamdan, Fadi F., additional, Klitten, Laura L., additional, Møller, Rikke S., additional, Carmant, Lionel, additional, Schwartzentruber, Jeremy, additional, Patry, Lysanne, additional, Dobrzeniecka, Sylvia, additional, Rochefort, Daniel, additional, Neugnot-Cerioli, Mathilde, additional, Lacaille, Jean-Claude, additional, Niu, Zhiyv, additional, Eng, Christine M., additional, Yang, Yaping, additional, Palardy, Sylvain, additional, Belhumeur, Céline, additional, Rouleau, Guy A., additional, Tommerup, Niels, additional, Immken, LaDonna, additional, Beauchamp, Miriam H., additional, Patel, Gayle Simpson, additional, Majewski, Jacek, additional, Tarnopolsky, Mark A., additional, Scheffzek, Klaus, additional, Hjalgrim, Helle, additional, Michaud, Jacques L., additional, and Di Cristo, Graziella, additional

Published
2012
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11. A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

Author

Kalscheuer, Vera M., primary, Musante, Luciana, additional, Fang, Cheng, additional, Hoffmann, Kirsten, additional, Fuchs, Celine, additional, Carta, Eloisa, additional, Deas, Emma, additional, Venkateswarlu, Kanamarlapudi, additional, Menzel, Corinna, additional, Ullmann, Reinhard, additional, Tommerup, Niels, additional, Dalprà, Leda, additional, Tzschach, Andreas, additional, Selicorni, Angelo, additional, Lüscher, Bernhard, additional, Ropers, Hans-Hilger, additional, Harvey, Kirsten, additional, and Harvey, Robert J., additional

Published
2009
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12. Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Author

Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, and Zuffardi O

Subjects
Alleles, Chromothripsis, Comparative Genomic Hybridization, Female, Haplotypes genetics, Humans, In Situ Hybridization, Fluorescence, Maternal Age, Mosaicism, Phenotype, Prenatal Diagnosis, Trisomy pathology, Chromosome Aberrations, Chromosomes genetics, Maternal Inheritance genetics, Trisomy genetics
Abstract

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis., (© 2018 Wiley Periodicals, Inc.)

Published
2019
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