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Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H, Accorsi, Patrizia, Angriman, Marco, Baier, Hartmut, Benkel-Herrenbrueck, Ira, Benoit, Valérie, Budetta, Mauro, Caliebe, Almuth, Cantalupo, Gaetano, Capovilla, Giuseppe, Casara, Gianluca, Courage, Carolina, Deprez, Marie, Destrée, Anne, Dilena, Robertino, Erasmus, Corrie E, Fannemel, Madeleine, Fjær, Roar, Giordano, Lucio, Helbig, Katherine L, Heyne, Henrike O, Klepper, Joerg, Kluger, Gerhard J, Lederer, Damien, Lodi, Monica, Maier, Oliver, Merkenschlager, Andreas, Michelberger, Nina, Minetti, Carlo, Muhle, Hiltrud, Phalin, Judith, Ramsey, Keri, Romeo, Antonino, Schallner, Jens, Schanze, Ina, Shinawi, Marwan, Sleegers, Kristel, Sterbova, Katalin, Syrbe, Steffen, Traverso, Monica, Tzschach, Andreas, Uldall, Peter, Van Coster, Rudy, Verhelst, Helene, Viri, Maurizio, Winter, Susan, Wolff, Markus, Zenker, Martin, Zoccante, Leonardo, De Jonghe, Peter, Helbig, Ingo, Striano, Pasquale, Lemke, Johannes R, Møller, Rikke S, Weckhuysen, Sarah
Published in Neurology (08.03.2016)
Published in Neurology (08.03.2016)
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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
LE GOFF, Carine, MAHAUT, Clémentine, MARLIN, Sandrine, SIMON, Marleen, TOLMIE, John, VERLOES, Alain, CASANOVA, Jean-Laurent, MUNNICH, Arnold, CORMIER-DAIRE, Valérie, ABHYANKAR, Avinash, LE GOFF, Wilfried, SERRE, Valérie, AFENJAR, Alexandra, DESTREE, Anne, DI ROCCO, Maja, HERON, Delphine, JACQUEMONT, Sébastien
Published in Nature genetics (01.01.2012)
Published in Nature genetics (01.01.2012)
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Adult phenotype of KCNQ2 encephalopathy
Boets, Stephanie, Johannesen, Katrine M, Destree, Anne, Manti, Filippo, Ramantani, Georgia, Lesca, Gaetan, Vercueil, Laurent, Koenig, Mary Kay, Striano, Pasquale, Møller, Rikke Steensbjerre, Cooper, Edward, Weckhuysen, Sarah
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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm
DOYLE, Alexander J, DOYLE, Jefferson J, NORRIS, Russell A, HUSO, Nicholas D, LEAHY, Dan, MOHR, David W, CAULFIELD, Mark J, SCOTT, Alan F, DESTREE, Anne, HENNEKAM, Raoul C, ARN, Pamela H, CURRY, Cynthia J, BESSLING, Seneca L, VAN LAER, Lut, MCCALLION, Andrew S, LOESS, Bart L, DIETZ, Harry C, MARAGH, Samantha, LINDSAY, Mark E, SCHEPERS, Dorien, GILLIS, Elisabeth, MORTIER, Geert, HOMFRAY, Tessa, SAULS, Kimberly
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R, Webster, Andrew R, Leroy, Bart P, Moore, Anthony T, De Baere, Elfride
Published in Scientific reports (28.01.2020)
Published in Scientific reports (28.01.2020)
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The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
Muys, Joke, Blaumeiser, Bettina, Jacquemyn, Yves, Bandelier, Claude, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, Courtens, Winnie, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Fieuw, Annelies, Fransen, Erik, Gatot, Jean‐Stéphane, Holmgren, Philip, Jamar, Mauricette, Janssens, Sandra, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Meuwissen, Marije, Parmentier, Benoit, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vanakker, Olivier, Vermeesch, Joris, Janssens, Katrien
Published in Prenatal diagnosis (01.12.2018)
Published in Prenatal diagnosis (01.12.2018)
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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
Allou, Lila, Lambert, Laetitia, Amsallem, Daniel, Bieth, Eric, Edery, Patrick, Destrée, Anne, Rivier, François, Amor, David, Thompson, Elizabeth, Nicholl, Julian, Harbord, Michael, Nemos, Christophe, Saunier, Aline, Moustaïne, Aissa, Vigouroux, Adeline, Jonveaux, Philippe, Philippe, Christophe
Published in European journal of human genetics : EJHG (01.12.2012)
Published in European journal of human genetics : EJHG (01.12.2012)
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Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study
Muys, Joke, Jacquemyn, Yves, Blaumeiser, Bettina, Bourlard, Laura, Brison, Nathalie, Bulk, Saskia, Chiarappa, Patrizia, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Destrée, Anne, Devriendt, Koenraad, Dheedene, Annelies, Duquenne, Armelle, Fieuw, Annelies, Fransen, Erik, Gatot, Jean‐Stéphane, Jamar, Mauricette, Janssens, Sandra, Kerstjens, Jorien, Keymolen, Kathelijn, Lederer, Damien, Menten, Björn, Pichon, Bruno, Rombout, Sonia, Sznajer, Yves, Van Den Bogaert, Ann, Van Den Bogaert, Kris, Vermeesch, Joris, Janssens, Katrien
Published in Prenatal diagnosis (01.09.2020)
Published in Prenatal diagnosis (01.09.2020)
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Episignature analysis of moderate effects and mosaics
Oexle, Konrad, Zech, Michael, Stühn, Lara G, Siegert, Sandy, Brunet, Theresa, Schmidt, Wolfgang M, Wagner, Matias, Schmidt, Axel, Engels, Hartmut, Tilch, Erik, Monestier, Olivier, Destrėe, Anne, Hanker, Britta, Boesch, Sylvia, Jech, Robert, Berutti, Riccardo, Kaiser, Frank, Haslinger, Bernhard, Haack, Tobias B, Garavaglia, Barbara, Krawitz, Peter, Winkelmann, Juliane, Mirza-Schreiber, Nazanin
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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ASC1 complex related conditions: Two novel paediatric patients with TRIP4 pathogenic variants and review of literature
Dembour, Alexis, Destrée, Anne, Deprez, Marie, Kadhim, Hazim, Karadurmus, Deniz, Froment, Olivier, Deconinck, Nicolas, Lederer, Damien
Published in European journal of medical genetics (01.04.2022)
Published in European journal of medical genetics (01.04.2022)
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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, Rick, Hoogeboom, Jeanette M, Mortier, Geert R, Titheradge, Hannah, Brueton, Louise, Starr, Lois, Stark, Zornitza, Ockeloen, Charlotte, Lourenco, Charles Marques, Blair, Ed, Hobson, Emma, Hurst, Jane, Maystadt, Isabelle, Destrée, Anne, Girisha, Katta M, Miller, Michelle, Dietz, Harry C, Loeys, Bart, Van Laer, Lut
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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A clinical scoring system for congenital contractural arachnodactyly
Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M, Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J, Hanna, Bernadette C, Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M, McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S, Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C, Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, Callewaert, Bert
Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
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Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity
Lambert, Sophie, Maystadt, Isabelle, Boulanger, Sébastien, Vrielynck, Pascal, Destrée, Anne, Lederer, Damien, Moortgat, Stéphanie
Published in European journal of medical genetics (01.10.2016)
Published in European journal of medical genetics (01.10.2016)
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Van der Aa, Nathalie, Rooms, Liesbeth, Vandeweyer, Geert, van den Ende, Jenneke, Reyniers, Edwin, Fichera, Marco, Romano, Corrado, Delle Chiaie, Barbara, Mortier, Geert, Menten, Björn, Destrée, Anne, Maystadt, Isabelle, Männik, Katrin, Kurg, Ants, Reimand, Tiia, McMullan, Dom, Oley, Christine, Brueton, Louise, Bongers, Ernie M.H.F, van Bon, Bregje W.M, Pfund, Rolph, Jacquemont, Sebastien, Ferrarini, Alessandra, Martinet, Danielle, Schrander-Stumpel, Connie, Stegmann, Alexander P.A, Frints, Suzanna G.M, de Vries, Bert B.A, Ceulemans, Berten, Kooy, R. Frank
Published in European journal of medical genetics (01.03.2009)
Published in European journal of medical genetics (01.03.2009)
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
van der Sluijs, Pleuntje J, Jansen, Sandra, Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K, Bok, Levinus A, Brouwer, Alwin F J, van der Burgt, Ineke, Campeau, Philippe M, Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W Y, Chung, Brain H Y, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R, Fagerberg, Christina, Gardham, Alice, Gerkes, Erica H, Grasshoff, Ute, van Haeringen, Arie, den Hollander, Nicolette S, Horn, Denise, Hunt, David, Kant, Sarina G, Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W, Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M S, Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B, Netzer, Christian, Ockeloen, Charlotte W, Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N M, Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P, Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G, Rosello, Monica, Ruivenkamp, Claudia A L, Sagiroglu, Mahmut S, Sallevelt, Suzanne C E H, Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O, Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P A, Tanabe, Saori, Uctepe, Eyyup, Utine, G Eda, Veenstra-Knol, Hermine E, Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T, Wheeler, Patricia, Wilson, Golder N, Wilson, Louise C, Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B A, Clayton-Smith, Jill, Santen, Gijs W E
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
ALLOU, Lila, LAMBERT, Laetitia, HARBORD, Michael, NEMOS, Christophe, SAUNIER, Aline, MOUSTAÏNE, Aissa, VIGOUROUX, Adeline, JONVEAUX, Philippe, PHILIPPE, Christophe, AMSALLEM, Daniel, BIETH, Eric, EDERY, Patrick, DESTREE, Anne, RIVIER, François, AMOR, David, THOMPSON, Elizabeth, NICHOLL, Julian
Published in European journal of human genetics : EJHG (27.06.2012)
Published in European journal of human genetics : EJHG (27.06.2012)
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Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)
Champion, Kristen J., Basehore, Monica J., Wood, Tim, Destrée, Anne, Vannuffel, Pascal, Maystadt, Isabelle
Published in Molecular genetics and metabolism (01.05.2010)
Published in Molecular genetics and metabolism (01.05.2010)
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NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
GRISART, Bernard, RACK, Katrina, VIDREQUIN, Sébastien, HILBERT, Pascale, DELTENRE, Pierre, VERELLEN-DUMOULIN, Christine, DESTREE, Anne
Published in European journal of human genetics : EJHG (01.03.2008)
Published in European journal of human genetics : EJHG (01.03.2008)
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