Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
Banka, S., Lederer, D., Benoit, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B., McKee, S., Lloyd, I.C., Shears, D., Stewart, H., White, S.M., Savarirayan, R., Mancini, G.M.S., Beysen, D., Cohn, R.D., Grisart, B., Maystadt, I., Donnai, D.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene
Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, K, Moizard, M-P, Raynaud, M
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family
Maystadt, I, Destree, A, Benoit, V, Aeby, A, Lederer, D, Moortgat, S, Jurkiewicz, D, Krajewska-Walasek, M, Hanauer, A, Thomas, GM
Published in Clinical genetics (01.01.2014)
Published in Clinical genetics (01.01.2014)
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Journal Article
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
Saal, S, Faivre, L, Aral, Bernard, Gigot, N, Toutain, A, Van Maldergem, L, Destree, A, Maystadt, I, Cosyns, J-P, Jouk, P-S, Loeys, B, Chauveau, D, Bieth, E, Layet, V, Mathieu, M, Lespinasse, J, Teebi, A, Franco, B, Gautier, E, Binquet, C, Masurel-Paulet, A, Mousson, C, Gouyon, J-B, Huet, F, Thauvin-Robinet, C
Published in Clinical genetics (01.03.2010)
Published in Clinical genetics (01.03.2010)
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Allelic heterogeneity of SMARD1 at the IGHMBP2 locus
Maystadt, I., Zarhrate, M., Landrieu, P., Boespflug-Tanguy, O., Sukno, S., Collignon, P., Melki, J., Verellen-Dumoulin, C., Munnich, A., Viollet, L.
Published in Human mutation (01.05.2004)
Published in Human mutation (01.05.2004)
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A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36
Maystadt, I, Zarhrate, M, Leclair-Richard, D, Estournet, B, Barois, A, Renault, F, Routon, M-C, Durand, M-C, Lefebvre, S, Munnich, A, Verellen-Dumoulin, C, Viollet, L
Published in Neurology (11.07.2006)
Published in Neurology (11.07.2006)
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G.O.4 The NF-kappaB activator PLEKHG5 gene is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset
Maystadt, I, Rezsöhazy, R, Barkats, M, Duque, S, Vannuffel, P, Najimi, M, Munnich, A, Viollet, L, Verellen-Dumoulin, C
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan F M, Smith, Janine, Clayton-Smith, Jill
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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The Nuclear Factor κB–Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
Maystadt, Isabelle, Rezsöhazy, René, Barkats, Martine, Duque, Sandra, Vannuffel, Pascal, Remacle, Sophie, Lambert, Barbara, Najimi, Mustapha, Sokal, Etienne, Munnich, Arnold, Viollet, Louis, Verellen-Dumoulin, Christine
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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ARID1B-related disorder in 87 adults: Natural history and self-sustainability
van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., Santen, G.W.E.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc
Published in Molecular genetics & genomic medicine (01.09.2021)
Published in Molecular genetics & genomic medicine (01.09.2021)
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Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates
Indrieri, A., Van Rahden, V., Tiranti, V., Conte, I., Quartararo, J., Morleo, M., Iaconis, D., Tammaro, R., Chesi, G., Cermola, M., Tatè, R., Maystadt, I., Demuth, S., Zvulunov, A., D'Amato, I., Goffrini, P., Ferrero, I., Bovolenta, P., Kutsche, K., Zeviani, M., Franco, B.
Published in Biochimica et biophysica acta. Bioenergetics (01.10.2012)
Published in Biochimica et biophysica acta. Bioenergetics (01.10.2012)
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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene
Ronce, N, Maystadt, I, Hubert, C, Vonwill, S, Devriendt, K, Moizard, M-P, Raynaud, M
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family
Maystadt, I, Destree, A, Benoit, V, Aeby, A, Lederer, D, Moortgat, S, Jurkiewicz, D, Krajewska-Walasek, M, Hanauer, A, Thomas, G M
Published in Clinical genetics (01.01.2014)
Published in Clinical genetics (01.01.2014)
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