Works matching AU Hamel, Ben

Results: 56
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    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
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    The clinical spectrum of complete FBN1 allele deletions.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
    By:
    • Hilhorst-Hofstee, Yvonne;
    • Hamel, Ben C. J.;
    • Verheij, Joke B. G. M.;
    • Rijlaarsdam, Marry E. B.;
    • Mancini, Grazia M. S.;
    • Cobben, Jan M.;
    • Giroth, Cindy;
    • Ruivenkamp, Claudia A. L.;
    • Hansson, Kerstin B. M.;
    • Timmermans, Janneke;
    • Moll, Henriette A.;
    • Breuning, Martijn H.;
    • Pals, Gerard
    Publication type:
    Article
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    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
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    XLMR genes: update 2000.

    Published in:
    European Journal of Human Genetics, 2001, v. 9, n. 2, p. 71, doi. 10.1038/sj.ejhg.5200603
    By:
    • Chiurazzi, Pietro;
    • Hamel, Ben CJ;
    • Neri, Giovanni
    Publication type:
    Article
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    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
    16

    Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

    Published in:
    2006
    By:
    • Zenker, Martin;
    • Mayerle, Julia;
    • Lerch, Markus M;
    • Tagariello, Andreas;
    • Zerres, Klaus;
    • Durie, Peter R;
    • Beier, Matthias;
    • Hülskamp, Georg;
    • Guzman, Celina;
    • Rehder, Helga;
    • Beemer, Frits A;
    • Hamel, Ben;
    • Vanlieferinghen, Philippe;
    • Gershoni-Baruch, Ruth;
    • Vieira, Marta W;
    • Dumic, Miroslav;
    • Auslender, Ron;
    • Gil-da-Silva-Lopes, Vera L;
    • Steinlicht, Simone;
    • Rauh, Manfred
    Publication type:
    Correction Notice
    17

    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
    By:
    • Zenker, Martin;
    • Mayerle, Julia;
    • Lerch, Markus M.;
    • Tagariello, Andreas;
    • Zerres, Klaus;
    • Durie, Peter R.;
    • Beier, Matthias;
    • Hülskamp, Georg;
    • Guzman, Celina;
    • Rehder, Helga;
    • Beemer, Frits A.;
    • Hamel, Ben;
    • Vanlieferinghen, Philippe;
    • Gershoni-Baruch, Ruth;
    • Vieira, Marta W.;
    • Dumic, Miroslav;
    • Auslender, Ron;
    • Gil-da-Silva-Lopes, Vera L.;
    • Steinlicht, Simone;
    • Rauh, Manfred
    Publication type:
    Article
    18

    Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

    Published in:
    Nature Genetics, 2004, v. 36, n. 9, p. 955, doi. 10.1038/ng1407
    By:
    • Vissers, Lisenka E. L. M.;
    • van Ravenswaaij, Conny M. A.;
    • Admiraal, Ronald;
    • Hurst, Jane A.;
    • de Vries, Bert B. A.;
    • Janssen, Irene M.;
    • van der Vliet, Walter A.;
    • Huys, Erik H. L. P. G.;
    • de Jong, Pieter J.;
    • Hamel, Ben C. J.;
    • Schoenmakers, Eric F. P. M.;
    • Brunner, Han G.;
    • Veltman, Joris A.;
    • van Kessel, Ad Geurts
    Publication type:
    Article
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    A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.

    Published in:
    Nature Genetics, 1999, v. 23, n. 1, p. 25, doi. 10.1038/12623
    By:
    • Carrié, Alain;
    • Jun, Lin;
    • Bienvenu, Thierry;
    • Vinet, Marie-Claude;
    • McDonell, Nathalie;
    • Couvert, Philippe;
    • Zemni, Ramzi;
    • Cardona, Ana;
    • Van Buggenhout, Griet;
    • Frints, Suzanna;
    • Hamel, Ben;
    • Moraine, Claude;
    • Ropers, Hans H.;
    • Strom, Tim;
    • Howell, Gareth R.;
    • Whittaker, Adam;
    • Ross, Mark T.;
    • Kahn, Axel;
    • Fryns, Jean-Pierre
    Publication type:
    Article
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    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
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    Familial adult-onset muscular dystrophy with leukoencephalopathy.

    Published in:
    Annals of Neurology, 1992, v. 32, n. 4, p. 577, doi. 10.1002/ana.410320415
    By:
    • van Engelen, Baziel G. M.;
    • Leyten, Quint H.;
    • Bernsen, Pieter L. J. A.;
    • Gabreëls, Fons J. M.;
    • Joosten, Ed M. G.;
    • ter Laak, Henk J.;
    • Ruijs, Mechelien B. M.;
    • Hamel, Ben C. J.;
    • Cruysberg, Johan R. M.;
    • Barkhof, Frederik;
    • Valk, Jaap
    Publication type:
    Article
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    X-linked mental retardation.

    Published in:
    Nature Reviews Genetics, 2005, v. 6, n. 1, p. 46, doi. 10.1038/nrg1501
    By:
    • Ropers, H. -Hilger;
    • Hamel, Ben C. J.
    Publication type:
    Article
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    PORCN mutations in focal dermal hypoplasia: coping with lethality.

    Published in:
    Human Mutation, 2009, v. 30, n. 10, p. 1472, doi. 10.1002/humu.21125
    By:
    • Bornholdt, Dorothea;
    • Oeffner, Frank;
    • König, Arne;
    • Happle, Rudolf;
    • Alanay, Yasemin;
    • Ascherman, Jeffrey;
    • Benke, Paul J.;
    • del Carmen Boente, María;
    • van der Burgt, Ineke;
    • Chassaing, Nicolas;
    • Ellis, Ian;
    • Francisco, Christina Raissa I.;
    • Giovanna, Patricia Della;
    • Hamel, Ben;
    • Has, Cristina;
    • Heinelt, Kaatje;
    • Janecke, Andreas;
    • Kastrup, Wolfgang;
    • Loeys, Bart;
    • Lohrisch, Ingo
    Publication type:
    Article
    37

    PORCN mutations in focal dermal hypoplasia: coping with lethality.

    Published in:
    Human Mutation, 2009, v. 30, n. 5, p. E618, doi. 10.1002/humu.20992
    By:
    • Bornholdt, Dorothea;
    • Oeffner, Frank;
    • König, Arne;
    • Happle, Rudolf;
    • Alanay, Yasemin;
    • Ascherman, Jeffrey;
    • Benke, Paul J.;
    • del Carmen Boente, María;
    • van der Burgt, Ineke;
    • Chassaing, Nicolas;
    • Ellis, Ian;
    • Francisco, Christina Raissa I.;
    • Giovanna, Patricia Della;
    • Hamel, Ben;
    • Has, Cristina;
    • Heinelt, Kaatje;
    • Janecke, Andreas;
    • Kastrup, Wolfgang;
    • Loeys, Bart;
    • Lohrisch, Ingo
    Publication type:
    Article
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    Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.

    Published in:
    Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5
    By:
    • Winter, Jennifer;
    • Lehmann, Tanja;
    • Suckow, Vanessa;
    • Kijas, Zofia;
    • Kulozik, Andreas;
    • Kalscheuer, Vera;
    • Hamel, Ben;
    • Devriendt, Koen;
    • Opitz, John;
    • Lenzner, Steffen;
    • Ropers, Hans-Hilger;
    • Schweiger, Susann
    Publication type:
    Article
    41

    Carpenter syndrome in a patient from Tanzania.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 986, doi. 10.1002/ajmg.a.62015
    By:
    • Lodhia, Jay;
    • Rego‐Garcia, Iago;
    • Koipapi, Sengua;
    • Sadiq, Adnan;
    • Msuya, David;
    • Spaendonk, ResieVervenne‐van;
    • Hamel, Ben;
    • Dekker, Marieke
    Publication type:
    Article
    42

    Ellis‐van Creveld syndrome in a patient from Tanzania.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2034, doi. 10.1002/ajmg.a.61309
    By:
    • Dekker, Marieke C. J.;
    • Sadiq, Adnan M.;
    • Jusabani, Mubashir A.;
    • Mdavire, Vivian J.;
    • Baas, Frank;
    • Morton, David H.;
    • Hamel, Ben C. J.
    Publication type:
    Article
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    Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.

    Published in:
    Nature, 1998, v. 392, n. 6679, p. 923, doi. 10.1038/31940
    By:
    • Billuart, Pierre;
    • Bienvenu, Thierry;
    • Ronce, Nathalie;
    • des Portes, Vincent;
    • Vinet, Marie Claude;
    • Zemni, Ramzi;
    • Crollius, Hughes Roest;
    • Carrié, Alain;
    • Fauchereau, Fabien;
    • Cherry, Michele;
    • Briault, Sylvain;
    • Hamel, Ben;
    • Fryns, Jean-Pierre;
    • Beldjord, Cherif;
    • Kahn, Axel;
    • Moraine, Claude;
    • Chelly, Jamel
    Publication type:
    Article
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    A Mutation in COL9A2 Causes Multiple Epiphyseal Dysplasia (EDM2).

    Published in:
    Annals of the New York Academy of Sciences, 1996, v. 785, n. 1, p. 303, doi. 10.1111/j.1749-6632.1996.tb56291.x
    By:
    • Muragaki, Yasuteru;
    • Mariman, Edwin C. M.;
    • Beersum, Sylvia E. C.;
    • PerÄLÄ, Merja;
    • Mourik, Jan B. A.;
    • Warman, Matthew L.;
    • Hamel, Ben C. J.;
    • Olsen, Bjorn R.
    Publication type:
    Article
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