Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation

Por Mende, Rose H., Drake, David P., Olomi, Raimos M., Hamel, Ben C. J.
Publicado em 2012

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Por Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.
Publicado em 2012

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Por Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C. J., Thomas, Paul, Lespinasse, James, Raynaud, Martine, Paringaux, Christine, van Bokhoven, Hans, Kalscheuer, Vera, Fryns, Jean-Pierre, Chelly, Jamel, Moraine, Claude, Briault, Sylvain
Publicado em 2002

Altered regulation of platelet-derived growth factor receptor-α gene-transcription in vitro by spina bifida-associated mutant Pax1 proteins

Por Joosten, Paul H. L. J., Hol, Frans A., van Beersum, Sylvia E. C., Peters, Heiko, Hamel, Ben C. J., Afink, Gijs B., van Zoelen, Everardus J. J., Mariman, Edwin C. M.
Publicado em 1998

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

Por Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.
Publicado em 2013

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Por Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M., van Bokhoven, Hans
Publicado em 2004

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

Por Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans
Publicado em 2006

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Por Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C. J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain
Publicado em 2004

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Por de Brouwer, Arjan P. M. , Williams, Kelly L. , Duley, John A. , van Kuilenburg, André B. P. , Nabuurs, Sander B. , Egmont-Petersen, Michael , Lugtenberg, Dorien , Zoetekouw, Lida , Banning, Martijn J. G. , Roeffen, Melissa , Hamel, Ben C. J. , Weaving, Linda , Ouvrier, Robert A. , Donald, Jennifer A. , Wevers, Ron A. , Christodoulou, John , van Bokhoven, Hans 
Publicado em 2007

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

Por Lugtenberg, Dorien, Yntema, Helger G., Banning, Martijn J. G., Oudakker, Astrid R., Firth, Helen V., Willatt, Lionel, Raynaud, Martine, Kleefstra, Tjitske, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gécz, Jozef, Reeuwijk, Jeroen van, Nabuurs, Sander B., de Vries, Bert B. A., Hamel, Ben C. J., de Brouwer, Arjan P. M., Bokhoven, Hans van
Publicado em 2006

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

Por Breuning, Martijn H., Dauwerse, Hans G., Fugazza, Gluseppina, Saris, Jasper J., Spruit, Lia, Wijnen, Herman, Tommerup, Niels, van der Hagen, C. B., Imaizumi, Kiyoshi, Kuroki, Yoshikazu, van den Boogaard, Marie-Jose, de Pater, Joke M., Mariman, Edwin C. M., Hamel, Ben C. J., Himmelbauer, Heinz, Frischauf, Anne-Marie, Stallings, Raymond L., Beverstock, Geoffrey C., van Ommen, Gert-Jan B., Hennekam, Raoul C. M.
Publicado em 1993

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Por Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben C J, van Bokhoven, Hans, de Brouwer, Arjan P M
Publicado em 2009

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Por Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.
Publicado em 2013

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Por van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.
Publicado em 2001

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Por Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Publicado em 2011

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Por Rice, Gillian I, Bond, Jacquelyn, Asipu, Aruna, Brunette, Rebecca L, Manfield, Iain W, Carr, Ian M, Fuller, Jonathan C, Jackson, Richard M, Lamb, Teresa, Briggs, Tracy A, Ali, Manir, Gornall, Hannah, Couthard, Lydia R, Aeby, Alec, Attard-Montalto, Simon P, Bertini, Enrico, Bodemer, Christine, Brockmann, Knut, Brueton, Louise A, Corry, Peter C, Desguerre, Isabelle, Fazzi, Elisa, Cazorla, Angels Garcia, Gener, Blanca, Hamel, Ben C J, Heiberg, Arvid, Hunter, Matthew, van der Knaap, Marjo S, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenco, Charles M, Marom, Daphna, McDermott, Michael F, van der Merwe, William, Orcesi, Simona, Prendiville, Julie S, Rasmussen, Magnhild, Shalev, Stavit A, Soler, Doriette M, Shinawi, Marwan, Spiegel, Ronen, Tan, Tiong Y, Vanderver, Adeline, Wakeling, Emma L, Wassmer, Evangeline, Whittaker, Elizabeth, Lebon, Pierre, Stetson, Daniel B, Bonthron, David T, Crow, Yanick J
Publicado em 2009

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Por Rice, Gillian , Patrick, Teresa , Parmar, Rekha , Taylor, Claire F. , Aeby, Alec , Aicardi, Jean , Artuch, Rafael , Montalto, Simon Attard , Bacino, Carlos A. , Barroso, Bruno , Baxter, Peter , Benko, Willam S. , Bergmann, Carsten , Bertini, Enrico , Biancheri, Roberta , Blair, Edward M. , Blau, Nenad , Bonthron, David T. , Briggs, Tracy , Brueton, Louise A. , Brunner, Han G. , Burke, Christopher J. , Carr, Ian M. , Carvalho, Daniel R. , Chandler, Kate E. , Christen, Hans-Jürgen , Corry, Peter C. , Cowan, Frances M. , Cox, Helen , D’Arrigo, Stefano , Dean, John , De Laet, Corinne , De Praeter, Claudine , Déry, Catherine , Ferrie, Colin D. , Flintoff, Kim , Frints, Suzanna G. M. , Garcia-Cazorla, Angels , Gener, Blanca , Goizet, Cyril , Goutières, Françoise , Green, Andrew J. , Guët, Agnès , Hamel, Ben C. J. , Hayward, Bruce E. , Heiberg, Arvid , Hennekam, Raoul C. , Husson, Marie , Jackson, Andrew P. , Jayatunga, Rasieka , Jiang, Yong-Hui , Kant, Sarina G. , Kao, Amy , King, Mary D. , Kingston, Helen M. , Klepper, Joerg , van der Knaap, Marjo S. , Kornberg, Andrew J. , Kotzot, Dieter , Kratzer, Wilfried , Lacombe, Didier , Lagae, Lieven , Landrieu, Pierre Georges , Lanzi, Giovanni , Leitch, Andrea , Lim, Ming J. , Livingston, John H. , Lourenco, Charles M. , Lyall, E. G. Hermione , Lynch, Sally A. , Lyons, Michael J. , Marom, Daphna , McClure, John P. , McWilliam, Robert , Melancon, Serge B. , Mewasingh, Leena D. , Moutard, Marie-Laure , Nischal, Ken K. , Østergaard, John R. , Prendiville, Julie , Rasmussen, Magnhild , Rogers, R. Curtis , Roland, Dominique , Rosser, Elisabeth M. , Rostasy, Kevin , Roubertie, Agathe , Sanchis, Amparo , Schiffmann, Raphael , Scholl-Bürgi, Sabine , Seal, Sunita , Shalev, Stavit A. , Corcoles, C. Sierra , Sinha, Gyan P. , Soler, Doriette , Spiegel, Ronen , Stephenson, John B. P. , Tacke, Uta , Tan, Tiong Yang , Till, Marianne , Tolmie, John L. , Tomlin, Pam , Vagnarelli, Federica , Valente, Enza Maria , Van Coster, Rudy N. A. , Van der Aa, Nathalie , Vanderver, Adeline , Vles, Johannes S. H. , Voit, Thomas , Wassmer, Evangeline , Weschke, Bernhard , Whiteford, Margo L. , Willemsen, Michel A. A. , Zankl, Andreas , Zuberi, Sameer M. , Orcesi, Simona , Fazzi, Elisa , Lebon, Pierre , Crow, Yanick J. 
Publicado em 2007