Works by van Bokhoven, Hans

Results: 93

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

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

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 8, p. 721, doi. 10.1007/s10038-006-0010-8

By:

Koolen, David A.;
Herbergs, Jos;
Veltman, Joris A.;
Pfundt, Rolph;
van Bokhoven, Hans;
Stroink, Hans;
Sistermans, Erik A.;
Brunner, Han G.;
van Kessel, Ad Geurts;
de Vries, Bert B. A.

Publication type:

Article

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

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257

By:

Iqbal, Zafar;
Shahzad, Mohsin;
Vissers, Lisenka E L M;
van Scherpenzeel, Monique;
Gilissen, Christian;
Razzaq, Attia;
Zahoor, Muhammad Yasir;
Khan, Shaheen N;
Kleefstra, Tjitske;
Veltman, Joris A;
de Brouwer, Arjan P M;
Lefeber, Dirk J;
van Bokhoven, Hans;
Riazuddin, Sheikh

Publication type:

Article

Homozygosity mapping in outbred families with mental retardation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 597, doi. 10.1038/ejhg.2010.167

By:

Schuurs-Hoeijmakers, Janneke H. M.;
Hehir-Kwa, Jayne Y.;
Pfundt, Rolph;
van Bon, Bregje W. M.;
de Leeuw, Nicole;
Kleefstra, Tjitske;
Willemsen, Michèl A.;
van Kessel, Ad Geurts;
Brunner, Han G.;
Veltman, Joris A.;
van Bokhoven, Hans;
de Brouwer, Arjan P. M.;
de Vries, Bert B. A.

Publication type:

Article

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 4, p. 429, doi. 10.1038/ejhg.2009.192

By:

Willemsen, Marjolein H.;
Fernandez, Bridget A.;
Bacino, Carlos A.;
Gerkes, Erica;
de Brouwer, Arjan P. M.;
Pfundt, Rolph;
Sikkema-Raddatz, Birgit;
Scherer, Stephen W.;
Marshall, Christian R.;
Potocki, Lorraine;
van Bokhoven, Hans;
Kleefstra, Tjitske

Publication type:

Article

Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1024, doi. 10.1038/ejhg.2009.2

By:

David, Dezső;
Marques, Bárbara;
Ferreira, Cristina;
Vieira, Paula;
Corona-Rivera, Alfredo;
Ferreira, José Carlos;
van Bokhoven, Hans

Publication type:

Article

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66

By:

Frints, Suzanna Gerarda Maria;
Lenzner, Steffen;
Bauters, Mareike;
Jensen, Lars Riff;
Van Esch, Hilde;
des Portes, Vincent;
Moog, Ute;
Macville, Merryn Victor Erik;
van Roozendaal, Kees;
Schrander-Stumpel, Constance Theresia Rimbertha Maria;
Tzschach, Andreas;
Marynen, Peter;
Fryns, Jean-Pierre;
Hamel, Ben;
van Bokhoven, Hans;
Chelly, Jamel;
Beldjord, Chérif;
Turner, Gillian;
Gecz, Jozef;
Moraine, Claude

Publication type:

Article

Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1306, doi. 10.1038/sj.ejhg.5201706

By:

Michielse, Caroline B.;
Bhat, Meena;
Brady, Angela;
Jafrid, Hussain;
van den Hurk, José A. J. M.;
Raashid, Yasmin;
Brunner, Han G.;
van Bokhoven, Hans;
Padberg, George W.

Publication type:

Article

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 904, doi. 10.1038/sj.ejhg.5201640

By:

Rinne, Tuula;
Spadoni, Emanuela;
Kjaer, Klaus W.;
Danesino, Cesare;
Larizza, Daniela;
Kock, Marianne;
Huoponen, Kirsi;
Savontaus, Marja-Liisa;
Aaltonen, Markku;
Duijf, Pascal;
Brunner, Han G.;
Penttinen, Maila;
van Bokhoven, Hans

Publication type:

Article

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 935, doi. 10.1038/sj.ejhg.5201446

By:

Bongers, Ernie M. H. F.;
Huysmans, Frans T.;
Levtchenko, Elena;
de Rooy, Jacky W.;
Blickman, Johan G.;
Admiraal, Ronald J. C.;
Huygen, Patrick L. M.;
Cruysberg, Johannes R. M.;
Toolens, Pauline A. M. P.;
Prins, Judith B.;
Krabbe, Paul F. M.;
Borm, George F.;
Schoots, Jeroen;
van Bokhoven, Hans;
van Remortele, Angela M. F.;
Hoefsloot, Lies H.;
van Kampen, Albert;
Knoers, Nine V. A. M.

Publication type:

Article

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 1, p. 24, doi. 10.1038/sj.ejhg.5201080

By:

Kleefstra, Tjitske;
Yntema, Helger G.;
Nillesen, Willy M.;
Oudakker, Astrid R.;
Mullaart, Reinier A.;
Geerdink, Niels;
Bokhoven, Hans van;
de Vries, Bert B.A.;
Sistermans, Erik A.;
Hamel, Ben C.J.

Publication type:

Article

MicroRNA-338 modulates cortical neuronal placement and polarity.

Published in:

RNA Biology, 2017, v. 14, n. 7, p. 905, doi. 10.1080/15476286.2017.1325067

By:

Kos, Aron;
de Mooij-Malsen, Annetrude J.;
van Bokhoven, Hans;
Kaplan, Barry B.;
Martens, Gerard J.;
Kolk, Sharon M.;
Aschrafi, Armaz

Publication type:

Article

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

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-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

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

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

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

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Published in:

Nature Genetics, 2005, v. 37, n. 5, p. 465, doi. 10.1038/ng1546

By:

van Bokhoven, Hans;
Celli, Jacopo;
van Reeuwijk, Jeroen;
Rinne, Tuula;
Glaudemans, Bob;
van Beusekom, Ellen;
Rieu, Paul;
Newbury-Ecob, Ruth A;
Chiang, Chin;
Brunner, Han G

Publication type:

Article

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 265, doi. 10.1038/81543

By:

Meij, Iwan C.;
Koenderink, Jan B.;
van Bokhoven, Hans;
Assink, Karin F.H.;
Tiel Groenestege, Wouter;
de Pont, Jan Joep H.H.M.;
Bindels, René J.M.;
Monnens, Leo A.H.;
van den Heuvel, Lambert P.W.J.;
Knoers, Nine V.A.M.

Publication type:

Article

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 247, doi. 10.1038/80002

By:

Kutsche, Kerstin;
Yntema, Helger;
Brandt, Alexander;
Jantke, Inka;
Gerd Nothwang, Hans;
Orth, Ulrike;
Boavida, Maria G.;
David, Dezsö;
Chelly, Jamel;
Fryns, Jean-Pierre;
Moraine, Claude;
Ropers, Hans-Hilger;
Hamel, Ben C.J.;
van Bokhoven, Hans;
Gal, Andreas

Publication type:

Article

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

Published in:

Nature Genetics, 2000, v. 25, n. 4, p. 423, doi. 10.1038/78113

By:

van Bokhoven, Hans;
Celli, Jacopo;
Kayserili, Hülya;
van Beusekom, Ellen;
Balci, Sevim;
Brussel, Wim;
Skovby, Flemming;
Kerr, Bronwyn;
Percin, E. Ferda;
Akarsu, Nurten;
Brunner, Han G.

Publication type:

Article

Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila.

Published in:

PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003911

By:

Oortveld, Merel A. W.;
Keerthikumar, Shivakumar;
Oti, Martin;
Nijhof, Bonnie;
Fernandes, Ana Clara;
Kochinke, Korinna;
Castells-Nobau, Anna;
van Engelen, Eva;
Ellenkamp, Thijs;
Eshuis, Lilian;
Galy, Anne;
van Bokhoven, Hans;
Habermann, Bianca;
Brunner, Han G.;
Zweier, Christiane;
Verstreken, Patrik;
Huynen, Martijn A.;
Schenck, Annette

Publication type:

Article

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.

Published in:

PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002427

By:

Lefeber, Dirk J.;
de Brouwer, Arjan P. M.;
Morava, Eva;
Riemersma, Moniek;
Schuurs-Hoeijmakers, Janneke H. M.;
Absmanner, Birgit;
Verrijp, Kiek;
den Akker, Willem M. R. van;
Huijben, Karin;
Steenbergen, Gerry;
van Reeuwijk, Jeroen;
Jozwiak, Adam;
Zucker, Nili;
Lorber, Avraham;
Lammens, Martin;
Knopf, Carlos;
van Bokhoven, Hans;
Grünewald, Stephanie;
Lehle, Ludwig;
Kapusta, Livia

Publication type:

Article

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice.

Published in:

PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002278

By:

Vissers, Lisenka E. L. M.;
Cox, Timothy C.;
Maga, A. Murat;
Short, Kieran M.;
Wiradjaja, Fenny;
Janssen, Irene M.;
Jehee, Fernanda;
Bertola, Debora;
Liu, Jia;
Yagnik, Garima;
Sekiguchi, Kiyotoshi;
Kiyozumi, Daiji;
van Bokhoven, Hans;
Marcelis, Carlo;
Cunningham, Michael L.;
Anderson, Peter J.;
Boyadjiev, Simeon A.;
Passos-Bueno, Maria Rita;
Veltman, Joris A.;
Smyth, Ian

Publication type:

Article

Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.

Published in:

2010

By:

Thomason, Helen A.;
Huiqing Zhou;
Kouwenhoven, Evelyn N.;
Dotto, Gian-Paolo;
Restivo, Gaia;
Nguyen, Bach-Cuc;
Little, Hayley;
Dixon, Michael J.;
van Bokhoven, Hans;
Dixon, Jill;
Zhou, Huiqing

Publication type:

journal article

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

Identifying Genes Responsible for Intellectual Disability in Consanguineous Families.

Published in:

Human Heredity, 2014, v. 77, n. 1-4, p. 150, doi. 10.1159/000360539

By:

Iqbal, Zafar;
van Bokhoven, Hans

Publication type:

Article

The phenomenal epigenome in neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2020, v. 29, n. R1, p. R42, doi. 10.1093/hmg/ddaa175

By:

Ciptasari, Ummi;
Bokhoven, Hans van

Publication type:

Article

The phenomenal epigenome in neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R42, doi. 10.1093/hmg/ddaa175

By:

Ciptasari, Ummi;
Bokhoven, Hans van

Publication type:

Article

Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.

Published in:

Genes, 2021, v. 12, n. 7, p. 1088, doi. 10.3390/genes12071088

By:

Poeta, Loredana;
Padula, Agnese;
Lioi, Maria Brigida;
van Bokhoven, Hans;
Miano, Maria Giuseppina

Publication type:

Article

Schizophrenia: Complement Cleaning or Killing.

Published in:

Genes, 2021, v. 12, n. 2, p. 259, doi. 10.3390/genes12020259

By:

Hogenaar, Jirrine T.T.;
van Bokhoven, Hans;
Rodriguez-Revenga, Laia

Publication type:

Article

A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype.

Published in:

Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2277, doi. 10.1038/jid.2014.159

By:

Goldsmith, Tomer;
Eytan, Ori;
Magal, Lee;
Solomon, Michal;
Israeli, Shirli;
Warshauer, Emily;
Grafi-Cohen, Meital;
Aberdam, Daniel;
van Bokhoven, Hans;
Zhou, Huiqing;
Sarig, Ofer;
Sprecher, Eli;
Nousbeck, Janna

Publication type:

Article

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

A highly polymorphic microsatellite marker located within the choroideremia gene.

Published in:

Ophthalmic Genetics, 1996, v. 17, n. 3, p. 119, doi. 10.3109/13816819609057115

By:

Van Bokhoven, Hans;
Van den Hurk, José A. J. M.;
Bogerd, Liesbeth;
Van de Pol, Dorien J. R.;
Ropers, Hans-Hilger;
Cremers, Frans P.M.

Publication type:

Article

Phenotype variations within a choroideremia family lacking the entire CHM gene.

Published in:

Ophthalmic Genetics, 1995, v. 16, n. 4, p. 143, doi. 10.3109/13816819509057855

By:

Ponjavic, Vesna;
Abrahamson, Magnus;
Andréasson, Sten;
Bokhoven, Hans Van;
Cremers, Frans P. M.;
Ehinger, Berndt;
Fex, GÖRan

Publication type:

Article

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 13, p. 1968, doi. 10.1093/hmg/ddn094

By:

Rinne, Tuula;
Clements, Suzanne E.;
Lamme, Evert;
Duijf, Pascal H.G.;
Bolat, Emine;
Meijer, Rowdy;
Scheffer, Hans;
Rosser, Elisabeth;
Tan, Tiong Yang;
McGrath, John A.;
Schalkwijk, Joost;
Brunner, Han G.;
Zhou, Huiqing;
van Bokhoven, Hans

Publication type:

Article

Pathogenesis of split-hand/split-foot malformation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. suppl_1, p. R51, doi. 10.1093/hmg/ddg090

By:

Duijf, Pascal H.G.;
van Bokhoven, Hans;
Brunner, Han G.

Publication type:

Article

Pathogenesis of split-hand/split-foot malformation.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 1, p. r51, doi. 10.1093/hmg/ddg090

By:

Duijf, Pascal H.G.;
van Bokhoven, Hans;
Brunner, Han G.

Publication type:

Article

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 8, p. 981, doi. 10.1093/hmg/11.8.981

By:

Bienvenu, Thierry;
Poirier, Karine;
Friocourt, Gaelle;
Bahi, Nadia;
Beaumont, Delphine;
Fauchereau, Fabien;
Ben Jeema, Lamia;
Zemni, Ramzi;
Vinet, Marie-Claude;
Francis, Fiona;
Couvert, Philippe;
Gomot, Marie;
Moraine, Claude;
van Bokhoven, Hans;
Kalscheuer, Vera;
Frints, Suzanne;
Gecz, Josef;
Ohzaki, Kanae;
Chaabouni, Habiba;
Fryns, Jean-Pierre

Publication type:

Article

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 7, p. 799, doi. 10.1093/hmg/11.7.799

By:

Duijf, Pascal H. G.;
Vanmolkot, Kaate R. J.;
Propping, Peter;
Friedl, Waltraut;
Krieger, Elmar;
McKeon, Frank;
Dötsch, Volker;
Brunner, Han G.;
Bokhoven, Hans van

Publication type:

Article

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 221, doi. 10.1093/hmg/10.3.221

By:

McGrath, John A.;
Duijf, Pascal H.G.;
Doetsch, Volker;
Irvine, Alan D.;
de Waal, Rob;
Vanmolkot, Kaate R.J.;
Wessagowit, Vesarat;
Kelly, Alexander;
Atherton, David J.;
Griffiths, W. Andrew D.;
Orlow, Seth J.;
van Haeringen, Arie;
Ausems, Margreet G.E.M.;
Yang, Annie;
McKeon, Frank;
Bamshad, Michael A.;
Brunner, Han G.;
Hamel, Ben C.J.;
van Bokhoven, Hans

Publication type:

Article

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1311, doi. 10.1093/hmg/7.8.1311

By:

Bienvenu, Thierry;
des Portes, Vincent;
Saint Martin, Anne;
McDonell, Nathalie;
Billuart, Pierre;
Carrié, Alain;
Vinet, Marie‐Claude;
Couvert, Philippe;
Toniolo, Daniela;
Ropers, Hans‐Hilger;
Moraine, Claude;
van Bokhoven, Hans;
Fryns, Jean‐Pierre;
Kahn, Axel;
Beldjord, Cherif;
Chelly, Jamel

Publication type:

Article

Mouse Choroideremia Gene Mutation Causes Photoreceptor Cell Degeneration and is not Transmitted through the Female Germline.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 6, p. 851, doi. 10.1093/hmg/6.6.851

By:

van den Hurk, José A. J. M.;
Hendriks, Wiljan;
van de Pol, Dorien J. R.;
Oerlemans, Frank;
Jaissle, Gesine;
Ruther, Klaus;
Kohler, Konrad;
Hartmann, Jens;
Zrenner, Eberhart;
van Bokhoven, Hans;
Wieringa, Bé;
Ropers, Hans-Hilger;
Cremers, Frans P. M.

Publication type:

Article

COMPUTERIZED NEUROCOGNITIVE ASSESSMENT IN RARE GENETIC DISORDERS WITH MODERATE TO PROFOUND INTELLECTUAL DISABILITIES: A PROOF OF PRINCIPLE STUDY.

Published in:

Clinical Neuropsychiatry, 2018, v. 15, n. 6, p. 325

By:

Vermeulen, Karlijn;
Staal, Wouter G.;
Janzing, Joost G. E.;
van de Ven, Femke;
Oomens, Wouter;
van Dongen, Linde C. M.;
van Bokhoven, Hans;
Kleefstra, Tjitske;
Egger, Jos I. M.

Publication type:

Article

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

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1047

By:

Bokhoven, Hans van;
Schwartz, Marianne;
Andréasson, Sten;
Hurk, José A. J. M. van den;
Bogerd, Liesbeth;
Jay, Marcelle;
Rüther, Klaus;
Jay, B.;
Pawlowitzki, Ivar H.;
Sankila, Eeva-Marja;
Wright, Alan;
Ropers, Hans-Hilger;
Rosenberg, Thomas;
Cremers, Frans P. M.

Publication type:

Article

Cloning and characterization of the human choroideremia gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 7, p. 1041

By:

Bokhoven, Hans van;
Hurk, José A. J. M. van den;
Bogerd, Liesbeth;
Philippe, Christophe;
Gilgenkrantz, Simone;
Jong, Pieter de;
Ropers, Hans-Hilger;
Cremers, Frans P. M.

Publication type:

Article

Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells.

Published in:

Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03913-y

By:

Raaijmakers, Renée H.L.;
Ausems, C. Rosanne M.;
Willemse, Marieke;
Cumming, Sarah A.;
van Engelen, Baziel G.M.;
Monckton, Darren G.;
van Bokhoven, Hans;
Wansink, Derick G.

Publication type:

Article