Suchergebnisse - Breckpot, Jeroen

Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study von Verbesselt, Jente, Zink, Inge, Breckpot, Jeroen, Swillen, Ann

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Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts von Jühlen, Ramona, Martinelli, Valérie, Vinci, Chiara, Breckpot, Jeroen, Fahrenkrog, Birthe

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Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation von Witters, Peter, Breckpot, Jeroen, Foulquier, François, Preston, Graem, Jaeken, Jaak, Morava, Eva

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Genotype–phenotype relationship and risk stratification in loss‐of‐function SCN5A mutation carriers von Robyns, Tomas, Nuyens, Dieter, Vandenberk, Bert, Kuiperi, Cuno, Corveleyn, Anniek, Breckpot, Jeroen, Garweg, Christophe, Ector, Joris, Willems, Rik

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Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy von Robyns, Tomas, Kuiperi, Cuno, Breckpot, Jeroen, Devriendt, Koenraad, Souche, Erika, Van Cleemput, Johan, Willems, Rik, Nuyens, Dieter, Matthijs, Gert, Corveleyn, Anniek

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Whole Exome Sequencing in a Large Pedigree with DCM Identifies a Novel Mutation in RBM20 von Robyns, Tomas, Willems, Rik, Cleemput, Johan Van, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Breckpot, Jeroen, Devriendt, Koenraad, Corveleyn, Anniek

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Collaboratively charting the gene-to-phenotype network of human congenital heart defects von Barriot, Roland, Breckpot, Jeroen, Thienpont, Bernard, Brohée, Sylvain, Van Vooren, Steven, Coessens, Bert, Tranchevent, Leon-Charles, Van Loo, Peter, Gewillig, Marc, Devriendt, Koenraad, Moreau, Yves

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Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings von Louw, Jacoba J., Nunes Bastos, Ricardo, Chen, Xiaowen, Verdood, Céline, Corveleyn, Anniek, Jia, Yaojuan, Breckpot, Jeroen, Gewillig, Marc, Peeters, Hilde, Santoro, Massimo M., Barr, Francis, Devriendt, Koenraad

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Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate von Breckpot, Jeroen, Anderlid, Britt-Marie, Alanay, Yasemin, Blyth, Moira, Brahimi, Afane, Duban-Bedu, Bénédicte, Gozé, Odile, Firth, Helen, Yakicier, Mustafa Cengiz, Hens, Greet, Rayyan, Maissa, Legius, Eric, Vermeesch, Joris Robert, Devriendt, Koen

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Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements von Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R.

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Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements von Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R.

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Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature von Au, P. Y. Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K., Graham, Gail E., Galarreta, Carolina, Jones, Marilyn C., Kini, Usha, Stewart, Helen, Parboosingh, Jillian S., Kline, Antonie D., Innes, A. Micheil

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Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans von Thienpont, Bernard, Zhang, Litu, Postma, Alex V., Breckpot, Jeroen, Tranchevent, Léon-Charles, Van Loo, Peter, Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Zeynep, van Engelen, Klaartje, Menten, Björn, Mortier, Geert, Waggoner, Darrel, Gewillig, Marc, Moreau, Yves, Devriendt, Koen, Larsen, Lars Allan

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Return of genetic and genomic research findings: experience of a pediatric biorepository von Papaz, Tanya, Liston, Eriskay, Zahavich, Laura, Stavropoulos, Dimitri J., Jobling, Rebekah K., Kim, Raymond H., Reuter, Miriam, Miron, Anastasia, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Yao, Roderick, Akinrinade, Oyediran, Breckpot, Jeroen, Mital, Seema

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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease von Izarzugaza, Jose M. G., Ellesøe, Sabrina G., Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, Marlene D., Audain, Enrique, Dombrowsky, Gregor, Banasik, Karina, Sifrim, Alejandro, Wilsdon, Anna, Thienpont, Bernard, Breckpot, Jeroen, Gewillig, Marc, Brook, J. David, Hitz, Marc-Phillip, Larsen, Lars A., Brunak, Søren

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Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins von Vervoort, Lisanne, Demaerel, Wolfram, Rengifo, Laura Y, Odrzywolski, Adrian, Vergaelen, Elfi, Hestand, Matthew S, Breckpot, Jeroen, Devriendt, Koen, Swillen, Ann, McDonald-McGinn, Donna M, Fiksinski, Ania M, Zinkstok, Janneke R, Morrow, Bernice E, Heung, Tracy, Vorstman, Jacob A S, Bassett, Anne S, Chow, Eva W C, Shashi, Vandana, Vermeesch, Joris R

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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls von Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

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Congenital Diaphragmatic Hernia Interval on Chromosome 8p23.1 Characterized by Genetics and Protein Interaction Networks von Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.

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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio- facial/DiGeorge/22q11.2 deletion syndrome patients von Guo, Tingwei, McGinn, Donna McDonald, Blonska, Anna, Shanske, Alan, Bassett, Anne, Chow, Eva, Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann, Breckpot, Jeroen, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Carpenter, Courtney, Zheng, Xin, Johnson, Jacob, Chung, Jonathan, Higgins, Anne Marie, Philip, Nicole, Simon, Tony J., Coleman, Karlene, Heine-Suner, Damian, Rosell, Jordi, Kates, Wendy, Devoto, Marcella, Goldmuntz, Elizabeth, Zackai, Elaine, Wang, Tao, Shprintzen, Robert, Emanuel, Beverly, Morrow, Bernice

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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease von Soemedi, Rachel, Wilson, Ian J., Bentham, Jamie, Darlay, Rebecca, Töpf, Ana, Zelenika, Diana, Cosgrove, Catherine, Setchfield, Kerry, Thornborough, Chris, Granados-Riveron, Javier, Blue, Gillian M., Breckpot, Jeroen, Hellens, Stephen, Zwolinkski, Simon, Glen, Elise, Mamasoula, Chrysovalanto, Rahman, Thahira J., Hall, Darroch, Rauch, Anita, Devriendt, Koenraad, Gewillig, Marc, O’ Sullivan, John, Winlaw, David S., Bu’Lock, Frances, Brook, J. David, Bhattacharya, Shoumo, Lathrop, Mark, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

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