Resultados da busca - Jeroen Breckpot

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  1. 1
    Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease

    Chromosomal analysis and short-term outcome of prenatally diagnosed congenital heart disease por Marcellino Verbeke, Laurens Hannes, K. Devriendt, Kris Van Den Bogaert, Björn Cools, Luc De Catte, Marc Gewillig, Jeroen Breckpot

    Publicado em 2025
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  2. 2
    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

    Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders por Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Vermeesch

    Publicado em 2025
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  3. 3
    Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

    Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge por Lore Lannoo, Khaila van Straaten, Jeroen Breckpot, Nathalie Brison, Luc De Catte, Eftychia Dimitriadou, Eric Legius, Hilde Peeters, Ilse Parijs, Olga Tšuiko, Leen Vancoillie, Joris Vermeesch, Griet Van Buggenhout, Kris Van Den Bogaert, Kristel Van Calsteren, Koenraad Devriendt

    Publicado em 2022
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  4. 4
    Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

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

    Publicado em 2010
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  5. 5
    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

    Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator por Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Kasole Lubala, Sébastien Mbuyi‐Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy de Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Léon Mutesa, Alain Verloès, Prosper Lukusa-Tshilobo, Koenraad Devriendt

    Publicado em 2016
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  6. 6
    Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

    Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions por Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, T. Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto García‐Miñaúr, M. Cristina Digilio, Bruno Marino, Beverly G. Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald‐McGinn

    Publicado em 2023
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  7. 7
    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

    Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor por Jeroen Breckpot, Marieke Vercruyssen, Eddy Weyts, Sean Vandevoort, Greet D'Haenens, Griet Van Buggenhout, Lore Leempoels, Elise Brischoux‐Boucher, Lionel Van Maldergem, Alessandra Renieri, Maria Antonietta Mencarelli, Carla S. D’Angelo, Verónica Mericq, Mariëtte J.V. Hoffer, Maïthé Tauber, Catherine Molinas, Claudia Castiglioni, Nathalie Brison, Joris Vermeesch, Marina Danckaerts, Pascal Sienaert, Koenraad Devriendt, Annick Vogels

    Publicado em 2016
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  8. 8
    Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks por Mauro Longoni, Kasper Lage, Meaghan Russell, Marı́a Loscertales, Omar Abdul‐Rahman, Gareth Baynam, Steven B. Bleyl, Paul Brady, Jeroen Breckpot, Chih P. Chen, Koenraad Devriendt, Gabriele Gillessen‐Kaesbach, Arthur W. Grix, Alan F. Rope, Osamu Shimokawa, Bernarda Strauss, Dagmar Wieczorek, Elaine H. Zackai, Caroline Coletti, Faouzi I. Maalouf, Kristin Noonan, Ji Hyun Park, Adam Tracy, Charles Lee, Patricia K. Donahoe, Barbara R. Pober

    Publicado em 2012
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  9. 9
    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls por Rachel Soemedi, Ana Töpf, Ian Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J. David Brook, Javier T Granados-Riveron, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, Koenraad Devriendt, Jeroen Breckpot, Michael Hofbeck, Mark Lathrop, Anita Rauch, Gillian M. Blue, David S. Winlaw, Matthew E. Hurles, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney

    Publicado em 2011
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  10. 10
    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease por Rachel Soemedi, Ian Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zélénika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier T Granados-Riveron, Gillian M. Blue, Jeroen Breckpot, Stephen Hellens, Simon Zwolinkski, Elise Glen, Chrysovalanto Mamasoula, Thahira Rahman, Darroch Hall, Anita Rauch, Koenraad Devriendt, Marc Gewillig, John O’ Sullivan, David S. Winlaw, Frances Bu’Lock, J. David Brook, Shoumo Bhattacharya, Mark Lathrop, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney

    Publicado em 2012
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  11. 11
    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome por Elisabeth E. Mlynarski, Michael Xie, Deanne Taylor, Molly B. Sheridan, Tingwei Guo, Silvia E. Racedo, Donna M. McDonald‐McGinn, Eva W.C. Chow, Jacob Vorstman, Ann Swillen, Koenraad Devriendt, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Nicole Philip, Tony J. Simon, Amy E. Roberts, Małgorzata Piotrowicz, Carrie E. Bearden, Stéphan Eliez, Doron Gothelf, Karlene Coleman, Wendy R. Kates, Marcella Devoto, Elaine H. Zackai, Damián Heine‐Suñer, Elizabeth Goldmuntz, Anne S. Bassett, Bernice E. Morrow, Beverly S. Emanuel

    Publicado em 2016
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  12. 12
    Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

    Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome por Elisabeth E. Mlynarski, Molly B. Sheridan, Michael Xie, Tingwei Guo, Silvia E. Racedo, Donna M. McDonald‐McGinn, Xiaowu Gai, Eva W.C. Chow, Jacob Vorstman, Ann Swillen, Koenraad Devriendt, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Nicole Philip, Tony J. Simon, Amy E. Roberts, Małgorzata Piotrowicz, Carrie E. Bearden, Stéphan Eliez, Doron Gothelf, Karlene Coleman, Wendy R. Kates, Marcella Devoto, Elaine H. Zackai, Damián Heine‐Suñer, Tamim H. Shaikh, Anne S. Bassett, Elizabeth Goldmuntz, Bernice E. Morrow, Beverly S. Emanuel

    Publicado em 2015
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  13. 13
    Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

    Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients por Tingwei Guo, Donna M. McDonald‐McGinn, Anna Błońska, Alan Shanske, Anne S. Bassett, Eva W.C. Chow, Mark Bowser, Molly B. Sheridan, Frits A. Beemer, Koenraad Devriendt, Ann Swillen, Jeroen Breckpot, Maria Cristina Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob D. Johnson, Jonathan H. Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damián Heine‐Suñer, Jordi Rosell, Wendy R. Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine H. Zackai, Tao Wang, Robert J. Shprintzen, Beverly S. Emanuel, Bernice E. Morrow

    Publicado em 2011
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  14. 14
    Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

    Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot por Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Richard M. Monaghan, Elisavet Fotiou, Heather J. Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J. David Brook, Kerry Setchfield, Frances Bu’Lock, John O’Sullivan, Graham Stuart, Connie R. Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martín Baron, Sanjeev S. Bhaskar, Graeme Black, William G. Newman, Kathryn E. Hentges, G.M. Lathrop, Mauro Santibanez‐Koref, Bernard Keavney

    Publicado em 2019
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  15. 15
    Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

    Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot por Heather J. Cordell, Ana Töpf, Chrysovalanto Mamasoula, Alex V. Postma, Jamie Bentham, Diana Zélénika, Simon Heath, Gillian M. Blue, Catherine Cosgrove, Javier T Granados-Riveron, Rebecca Darlay, Rachel Soemedi, Ian Wilson, Kristin L. Ayers, Thahira Rahman, Diana Hall, Barbara J.M. Mulder, Aeilko H. Zwinderman, Klaartje van Engelen, J. David Brook, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, John O’Sullivan, Graham Stuart, J M Parsons, Shoumo Bhattacharya, David S. Winlaw, Seema Mital, Marc Gewillig, Jeroen Breckpot, Koenraad Devriendt, Antoon F.M. Moorman, Anita Rauch, G.M. Lathrop, Bernard Keavney, JA Goodship

    Publicado em 2013
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  16. 16
    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 por Heather J. Cordell, Jamie Bentham, Ana Töpf, Diana Zélénika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian M. Blue, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Ruairidh Martin, Thahira Rahman, Darroch Hall, Klaartje van Engelen, Antoon F.M. Moorman, A. H. Zwinderman, Phil Barnett, Tamara T. Koopmann, Michiel Adriaens, András Varró, Alfred L. George, C. Dos Remedios, Nanette H. Bishopric, Connie R. Bezzina, John O’Sullivan, Marc Gewillig, Frances Bu’Lock, David S. Winlaw, Shoumo Bhattacharya, Koenraad Devriendt, J. David Brook, Barbara J.M. Mulder, Seema Mital, Alex V. Postma, G.M. Lathrop, Martin Farrall, Judith A. Goodship, Bernard Keavney

    Publicado em 2013
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  17. 17
    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

    Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans por Saeed Al Turki, Ashok Kumar Manickaraj, Catherine L. Mercer, Sebastian S. Gerety, Marc‐Phillip Hitz, Sarah Lindsay, Lisa C.A. D’Alessandro, G. Jawahar Swaminathan, Jamie Bentham, Anne-Karin Arndt, Jacoba Louw, Jeroen Breckpot, Marc Gewillig, Bernard Thienpont, Hashim Abdul‐Khaliq, Christine Harnack, Kirstin Hoff, Hans-Heiner Kramer, Stephan Schubert, Reiner Siebert, Okan Toka, Catherine Cosgrove, Hugh Watkins, Anneke Lucassen, Anne M. Kelly, Anthony P. Salmon, Frances Bu’Lock, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, J. David Brook, Barbara J.M. Mulder, Sabine Klaassen, Shoumo Bhattacharya, Koenraad Devriendt, David Fitzpatrick, David I. Wilson, Seema Mital, Matthew E. Hurles

    Publicado em 2014
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  18. 18
    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

    Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability por Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw‐Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane‐Yeboa, Gaetana Cerbone, Jill Clayton‐Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cédric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah‐Politi, Nicholas Stong, Tim M. Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot

    Publicado em 2018
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  19. 19
    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

    The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants por Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglæde, Diana Baralle, Daniela Q.C.M. Barge‐Schaapveld, Moira Blyth, Mieke C. Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valérie Cormier‐Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jørgensen, Sarina G. Kant, Cathy Kirally-Borri, David A. Koolen, Ajith Kumar, Anatália Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury‐Ecob, Daniela T. Pilz, Renata Posmyk, Carlos E. Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter D. Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra‐Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman

    Publicado em 2018
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  20. 20
    Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

    Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects por Yingjie Zhao, Tingwei Guo, Ania Fiksinski, Elemi Breetvelt, Donna M. McDonald‐McGinn, T. Blaine Crowley, Alexander Diacou, Maude Schneider, Stéphan Eliez, Ann Swillen, Jeroen Breckpot, Joris Vermeesch, Eva W.C. Chow, Doron Gothelf, Sasja N. Duijff, Rens Evers, Thérèse A. van Amelsvoort, Marianne B. M. van den Bree, Michael J. Owen, Maria Niarchou, Carrie E. Bearden, Claudia Ornstein, Maria Pontillo, Antonino Buzzanca, Stefano Vicari, Marco Armando, Kieran C. Murphy, Clodagh M. Murphy, Sixto García‐Miñaúr, Nicole Philip, Linda Campbell, Jaume Morey‐Cañellas, Jasna Raventos, Jordi Rosell, Damián Heine‐Suñer, Robert J. Shprintzen, Raquel E. Gur, Elaine H. Zackai, Beverly S. Emanuel, Tao Wang, Wendy R. Kates, Anne S. Bassett, Jacob Vorstman, Bernice E. Morrow

    Publicado em 2018
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