Works matching AU van Bokhoven, Hans

Results: 94
    1

    Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523
    By:
    • Nillesen, Willy M.;
    • Yntema, Helger G.;
    • Moscarda, Marco;
    • Verbeek, Nienke E.;
    • Wilson, Louise C.;
    • Cowan, Frances;
    • Schepens, Marga;
    • Raas-Rothschild, Annick;
    • Gafni-Weinstein, Orly;
    • Zollino, Marcella;
    • Vijzelaar, Raymon;
    • Neri, Giovanni;
    • Nelen, Marcel;
    • Bokhoven, Hans van;
    • Giltay, Jacques;
    • Kleefstra, Tjitske
    Publication type:
    Article
    2

    Genotype-phenotype correlations in MYCN-related Feingold syndrome.

    Published in:
    Human Mutation, 2008, v. 29, n. 9, p. 1125, doi. 10.1002/humu.20750
    By:
    • Marcelis, Carlo L.M.;
    • Hol, Frans A.;
    • Graham, Gail E.;
    • Rieu, Paul N.M.A.;
    • Kellermayer, Richard;
    • Meijer, Rowdy P.P.;
    • Lugtenberg, Dorien;
    • Scheffer, Hans;
    • van Bokhoven, Hans;
    • Brunner, Han G.;
    • de Brouwer, Arjan P.M.
    Publication type:
    Article
    3

    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

    Published in:
    Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
    By:
    • de Brouwer, Arjan P.M.;
    • Yntema, Helger G.;
    • Kleefstra, Tjitske;
    • Lugtenberg, Dorien;
    • Oudakker, Astrid R.;
    • de Vries, Bert B.A.;
    • van Bokhoven, Hans;
    • Van Esch, Hilde;
    • Frints, Suzanne G.M.;
    • Froyen, Guy;
    • Fryns, Jean-Pierre;
    • Raynaud, Martine;
    • Moizard, Marie-Pierre;
    • Ronce, Nathalie;
    • Bensalem, Anissa;
    • Moraine, Claude;
    • Poirier, Karine;
    • Castelnau, Laetitia;
    • Saillour, Yoann;
    • Bienvenu, Thierry
    Publication type:
    Article
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    Biallelic loss of EMC10 leads to mild to severe intellectual disability.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 7, p. 1080, doi. 10.1002/acn3.51602
    By:
    • Kaiyrzhanov, Rauan;
    • Rocca, Clarissa;
    • Suri, Mohnish;
    • Gulieva, Sughra;
    • Zaki, Maha S.;
    • Henig, Noa Z.;
    • Siquier, Karine;
    • Guliyeva, Ulviyya;
    • Mounir, Samir M.;
    • Marom, Daphna;
    • Allahverdiyeva, Aynur;
    • Megahed, Hisham;
    • van Bokhoven, Hans;
    • Cantagrel, Vincent;
    • Rad, Aboulfazl;
    • Pourkeramti, Alemeh;
    • Dehghani, Boshra;
    • Shao, Diane D.;
    • Markus‐Bustani, Keren;
    • Sofrin‐Drucker, Efrat
    Publication type:
    Article
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    Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 24, p. 4089, doi. 10.1093/hmg/ddz254
    By:
    • Poeta, Loredana;
    • Padula, Agnese;
    • Attianese, Benedetta;
    • Valentino, Mariaelena;
    • Verrillo, Lucia;
    • Filosa, Stefania;
    • Shoubridge, Cheryl;
    • Barra, Adriano;
    • Schwartz, Charles E;
    • Christensen, Jesper;
    • Bokhoven, Hans van;
    • Helin, Kristian;
    • Lioi, Maria Brigida;
    • Collombat, Patrick;
    • Gecz, Jozef;
    • Altucci, Lucia;
    • Schiavi, Elia Di;
    • Miano, Maria Giuseppina
    Publication type:
    Article
    14

    B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
    By:
    • Maroofian, Reza;
    • Riemersma, Moniek;
    • Jae, Lucas T.;
    • Zhianabed, Narges;
    • Willemsen, Marjolein H.;
    • Wissink-Lindhout, Willemijn M.;
    • Willemsen, Michèl A.;
    • de Brouwer, Arjan P. M.;
    • Vahidi Mehrjardi, Mohammad Yahya;
    • Ashrafi, Mahmoud Reza;
    • Kusters, Benno;
    • Kleefstra, Tjitske;
    • Jamshidi, Yalda;
    • Nasseri, Mojila;
    • Pfundt, Rolph;
    • Brummelkamp, Thijn R.;
    • Abbaszadegan, Mohammad Reza;
    • Lefeber, Dirk J.;
    • van Bokhoven, Hans
    Publication type:
    Article
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    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.

    Published in:
    Autophagy, 2022, v. 18, n. 2, p. 423, doi. 10.1080/15548627.2021.1936777
    By:
    • Linda, Katrin;
    • Lewerissa, Elly I.;
    • Verboven, Anouk H. A.;
    • Gabriele, Michele;
    • Frega, Monica;
    • Klein Gunnewiek, Teun M.;
    • Devilee, Lynn;
    • Ulferts, Edda;
    • Hommersom, Marina;
    • Oudakker, Astrid;
    • Schoenmaker, Chantal;
    • van Bokhoven, Hans;
    • Schubert, Dirk;
    • Testa, Giuseppe;
    • Koolen, David A.;
    • de Vries, Bert B.A.;
    • Nadif Kasri, Nael
    Publication type:
    Article
    18

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
    By:
    • Bicknell, Louise S.;
    • Bongers, Ernie M. H. F.;
    • Leitch, Andrea;
    • Brown, Stephen;
    • Schoots, Jeroen;
    • Harley, Margaret E.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • Bober, Michael;
    • Brown, Paul A. J.;
    • van Bokhoven, Hans;
    • Dean, John;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • Hoefsloot, Lies H;
    • Kau, Nikolaus;
    • Knoers, Nine V. A. M.;
    • MacKenzie, James;
    • Opitz, John M.
    Publication type:
    Article
    19

    Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.

    Published in:
    Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
    By:
    • Kornak, Uwe;
    • Reynders, Ellen;
    • Dimopoulou, Aikaterini;
    • van Reeuwijk, Jeroen;
    • Fischer, Bjoern;
    • Rajab, Anna;
    • Budde, Birgit;
    • Nürnberg, Peter;
    • Foulquier, Francois;
    • Lefeber, Dirk;
    • Urban, Zsolt;
    • Gruenewald, Stephanie;
    • Annaert, Wim;
    • Brunner, Han G.;
    • van Bokhoven, Hans;
    • Wevers, Ron;
    • Morava, Eva;
    • Matthijs, Gert;
    • Van Maldergem, Lionel;
    • Mundlos, Stefan
    Publication type:
    Article
    20

    Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

    Published in:
    Nature Genetics, 2006, v. 38, n. 8, p. 917, doi. 10.1038/ng1845
    By:
    • Crow, Yanick J.;
    • Hayward, Bruce E.;
    • Parmar, Rekha;
    • Robins, Peter;
    • Leitch, Andrea;
    • Ali, Manir;
    • Black, Deborah N.;
    • van Bokhoven, Hans;
    • Brunner, Han G.;
    • Hamel, Ben C.;
    • Corry, Peter C.;
    • Cowan, Frances M.;
    • Frints, Suzanne G.;
    • Klepper, Joerg;
    • Livingston, John H.;
    • Lynch, Sally Ann;
    • Massey, Roger F;
    • Meritet, Jean François;
    • Michaud, Jacques L.;
    • Ponsot, Gerard
    Publication type:
    Article
    21

    Erratum: Mutations in different components of FGF signaling in LADD syndrome.

    Published in:
    2006
    By:
    • Rohmann, Edyta;
    • Brunner, Han G;
    • Kayserili, Hülya;
    • Uyguner, Oya;
    • Nürnberg, Gudrun;
    • Lew, Erin D.;
    • Dobbie, Angus;
    • Eswarakumar, Veraragavan P.;
    • Uzumcu, Abdullah;
    • Ulubil-Emeroglu, Melike;
    • Leroy, Jules G.;
    • Yun Li;
    • Becker, Christian;
    • Lehnerdt, Kai;
    • Cremers, Cor W. R. J.;
    • Yüksel-Apak, Memnune;
    • Nürnberg, Peter;
    • Kubisch, Christian;
    • Schlessinger, Joseph;
    • van Bokhoven, Hans
    Publication type:
    Correction Notice
    22

    Mutations in different components of FGF signaling in LADD syndrome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757
    By:
    • Rohmann, Edyta;
    • Brunner, Han G.;
    • Kayserili, Hülya;
    • Uyguner, Oya;
    • Nürnberg, Gudrun;
    • Lew, Erin D.;
    • Dobbie, Angus;
    • Eswarakumar, Veraragavan P.;
    • Uzumcu, Abdullah;
    • Ulubil-Emeroglu, Melike;
    • Leroy, Jules G.;
    • Yun Li;
    • Becker, Christian;
    • Lehnerdt, Kai;
    • Cremers, Cor W. R. J.;
    • Yüksel-Apak, Memnune;
    • Nürnberg, Peter;
    • Kubisch, Christian;
    • Schlessinger, Joseph;
    • van Bokhoven, Hans
    Publication type:
    Article
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    WNT5A mutations in patients with autosomal dominant Robinow syndrome.

    Published in:
    Developmental Dynamics, 2010, v. 239, n. 1, p. 327, doi. 10.1002/dvdy.22156
    By:
    • Person, Anthony D.;
    • Beiraghi, Soraya;
    • Sieben, Christine M.;
    • Hermanson, Spencer;
    • Neumann, Ann N.;
    • Robu, Mara E.;
    • Schleiffarth, J. Robert;
    • Billington, Charles J.;
    • van Bokhoven, Hans;
    • Hoogeboom, Jeannette M.;
    • Mazzeu, Juliana F.;
    • Petryk, Anna;
    • Schimmenti, Lisa A.;
    • Brunner, Han G.;
    • Ekker, Stephen C.;
    • Lohr, Jamie L.
    Publication type:
    Article
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    Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1006864
    By:
    • Koemans, Tom S.;
    • Kleefstra, Tjitske;
    • Chubak, Melissa C.;
    • Stone, Max H.;
    • Reijnders, Margot R. F.;
    • de Munnik, Sonja;
    • Willemsen, Marjolein H.;
    • Fenckova, Michaela;
    • Stumpel, Connie T. R. M.;
    • Bok, Levinus A.;
    • Sifuentes Saenz, Margarita;
    • Byerly, Kyna A.;
    • Baughn, Linda B.;
    • Stegmann, Alexander P. A.;
    • Pfundt, Rolph;
    • Zhou, Huiqing;
    • van Bokhoven, Hans;
    • Schenck, Annette;
    • Kramer, Jamie M.
    Publication type:
    Article
    31

    Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.

    Published in:
    Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
    By:
    • van Tol, Walinka;
    • van Scherpenzeel, Monique;
    • Alsady, Mohammad;
    • Riemersma, Moniek;
    • Hermans, Esther;
    • Kragt, Else;
    • Tasca, Giorgio;
    • Kamsteeg, Erik-Jan;
    • Pennings, Maartje;
    • van Beusekom, Ellen;
    • Vermeulen, Jeroen R.;
    • van Bokhoven, Hans;
    • Voermans, Nicol C.;
    • Willemsen, Michèl A.;
    • Ashikov, Angel;
    • Lefeber, Dirk J.
    Publication type:
    Article
    32

    Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a.

    Published in:
    PLoS Biology, 2011, v. 9, n. 1, p. 1, doi. 10.1371/journal.pbio.1000569
    By:
    • Kramer, Jamie M.;
    • Kochinke, Korinna;
    • Oortveld, Merel A. W.;
    • Marks, Hendrik;
    • Kramer, Daniela;
    • de Jong, Eiko K.;
    • Asztalos, Zoltan;
    • Westwood, J. Timothy;
    • Stunnenberg, Hendrik G.;
    • Sokolowski, Marla B.;
    • Keleman, Krystyna;
    • Huiqing Zhou;
    • van Bokhoven, Hans;
    • Schenck, Annette
    Publication type:
    Article
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    An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 10, p. 2711, doi. 10.1093/hmg/ddt664
    By:
    • Fakhouri, Walid D.;
    • Rahimov, Fedik;
    • Attanasio, Catia;
    • Kouwenhoven, Evelyn N.;
    • Ferreira De Lima, Renata L.;
    • Felix, Temis Maria;
    • Nitschke, Larissa;
    • Huver, David;
    • Barrons, Julie;
    • Kousa, Youssef A.;
    • Leslie, Elizabeth;
    • Pennacchio, Len A.;
    • Van Bokhoven, Hans;
    • Visel, Axel;
    • Zhou, Huiqing;
    • Murray, Jeffrey C.;
    • Schutte, Brian C.
    Publication type:
    Article
    36

    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 9, p. 1746, doi. 10.1093/hmg/ddt021
    By:
    • Buysse, Karen;
    • Riemersma, Moniek;
    • Powell, Gareth;
    • van Reeuwijk, Jeroen;
    • Chitayat, David;
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Blaser, Susan;
    • Babul-Hirji, Riyana;
    • Halliday, William;
    • Wright, Gavin J.;
    • Stemple, Derek L.;
    • Lin, Yung-Yao;
    • Lefeber, Dirk J.;
    • van Bokhoven, Hans
    Publication type:
    Article
    37

    Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 5, p. 852, doi. 10.1093/hmg/dds490
    By:
    • Balemans, Monique C.M.;
    • Nadif Kasri, Nael;
    • Kopanitsa, Maksym V.;
    • Afinowi, Nurudeen O.;
    • Ramakers, Ger;
    • Peters, Theo A.;
    • Beynon, Andy J.;
    • Janssen, Sanne M.;
    • van Summeren, Rik C.J.;
    • Eeftens, Jorine M.;
    • Eikelenboom, Nathalie;
    • Benevento, Marco;
    • Tachibana, Makoto;
    • Shinkai, Yoichi;
    • Kleefstra, Tjitske;
    • van Bokhoven, Hans;
    • Van der Zee, Catharina E.E.M.
    Publication type:
    Article
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    SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 12, p. 2257, doi. 10.1093/hmg/ddp161
    By:
    • Cliffe, Simon T.;
    • Kramer, Jamie M.;
    • Hussain, Khalid;
    • Robben, Joris H.;
    • de Jong, Eiko K.;
    • de Brouwer, Arjan P.;
    • Nibbeling, Esther;
    • Kamsteeg, Erik-Jan;
    • Wong, Melanie;
    • Prendiville, Julie;
    • James, Chela;
    • Padidela, Raja;
    • Becknell, Charlie;
    • van Bokhoven, Hans;
    • Deen, Peter M.T.;
    • Hennekam, Raoul C.M.;
    • Lindeman, Robert;
    • Schenck, Annette;
    • Roscioli, Tony;
    • Buckley, Michael F.
    Publication type:
    Article
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    Genetic Inactivation of the Serotonin Transporter Dysregulates Expression of Neurotransmission Genes and Genome‐Wide DNA Methylation Levels in the Medial Prefrontal Cortex of Male Rats During Postnatal Development.

    Published in:
    Developmental Neurobiology (19328451), 2025, v. 85, n. 3, p. 1, doi. 10.1002/dneu.22973
    By:
    • Kroeze, Yvet;
    • Oti, Martin;
    • Cooijmans, Roel H. M.;
    • van Beusekom, Ellen;
    • Kroeze, Leonie I.;
    • Middelman, Anthonieke;
    • van Bokhoven, Hans;
    • Kolk, Sharon M.;
    • Homberg, Judith R.;
    • Zhou, Huiqing
    Publication type:
    Article
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    The complexities of CACNA1A in clinical neurogenetics.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
    By:
    • Hommersom, Marina P.;
    • van Prooije, Teije H.;
    • Pennings, Maartje;
    • Schouten, Meyke I.;
    • van Bokhoven, Hans;
    • Kamsteeg, Erik-Jan;
    • van de Warrenburg, Bart P. C.
    Publication type:
    Article
    46
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    Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.

    Published in:
    Biomedicines, 2022, v. 10, n. 12, p. 3148, doi. 10.3390/biomedicines10123148
    By:
    • Meziane, Hamid;
    • Birling, Marie-Christine;
    • Wendling, Olivia;
    • Leblanc, Sophie;
    • Dubos, Aline;
    • Selloum, Mohammed;
    • Pavlovic, Guillaume;
    • Sorg, Tania;
    • Kalscheuer, Vera M.;
    • Billuart, Pierre;
    • Laumonnier, Frédéric;
    • Chelly, Jamel;
    • van Bokhoven, Hans;
    • Herault, Yann
    Publication type:
    Article
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    Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12947-3
    By:
    • Frega, Monica;
    • Linda, Katrin;
    • Keller, Jason M.;
    • Gümüş-Akay, Güvem;
    • Mossink, Britt;
    • van Rhijn, Jon-Ruben;
    • Negwer, Moritz;
    • Klein Gunnewiek, Teun;
    • Foreman, Katharina;
    • Kompier, Nine;
    • Schoenmaker, Chantal;
    • van den Akker, Willem;
    • van der Werf, Ilse;
    • Oudakker, Astrid;
    • Zhou, Huiqing;
    • Kleefstra, Tjitske;
    • Schubert, Dirk;
    • van Bokhoven, Hans;
    • Nadif Kasri, Nael
    Publication type:
    Article
    50

    A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
    By:
    • de Brouwer, Arjan PM;
    • Nabuurs, Sander B;
    • Verhaart, Ingrid EC;
    • Oudakker, Astrid R;
    • Hordijk, Roel;
    • Yntema, Helger G;
    • Hordijk-Hos, Jannet M;
    • Voesenek, Krysta;
    • de Vries, Bert BA;
    • van Essen, Ton;
    • Chen, Wei;
    • Hu, Hao;
    • Chelly, Jamel;
    • den Dunnen, Johan T;
    • Kalscheuer, Vera M;
    • Aartsma-Rus, Annemieke M;
    • Hamel, Ben CJ;
    • van Bokhoven, Hans;
    • Kleefstra, Tjitske
    Publication type:
    Article