Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
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.
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Bodemer, Christine, Vanderver, Adeline, Bertini, Enrico, Hamel, Ben C J, van der Knaap, Marjo S, Heiberg, Arvid, Orcesi, Simona, Tan, Tiong Y, Lagae, Lieven, Manfield, Iain W, Whittaker, Elizabeth, Lamb, Teresa, Gornall, Hannah, Cazorla, Angels Garcia, Rice, Gillian I, Hunter, Matthew, Shalev, Stavit A, Marom, Daphna, Rasmussen, Magnhild, Desguerre, Isabelle, Crow, Yanick J, Lourenco, Charles M, Bonthron, David T, Ali, Manir, Fuller, Jonathan C, Soler, Doriette M, Bond, Jacquelyn, Jackson, Richard M, Couthard, Lydia R, Wakeling, Emma L, Gener, Blanca, Brockmann, Knut, Landrieu, Pierre G, Fazzi, Elisa, Carr, Ian M, van der Merwe, William, Shinawi, Marwan, Kumar, Ram, Spiegel, Ronen, Briggs, Tracy A, Attard-Montalto, Simon P, Asipu, Aruna, Brueton, Louise A, Wassmer, Evangeline, Brunette, Rebecca L, Lebon, Pierre, Stetson, Daniel B, McDermott, Michael F, Aeby, Alec, Corry, Peter C, Prendiville, Julie S
Published in Nature genetics (01.07.2009)
Published in Nature genetics (01.07.2009)
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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
Willemsen, Marjolein H, Vissers, Lisenka E L, Willemsen, Michèl A A P, van Bon, Bregje W M, Kroes, Thessa, de Ligt, Joep, de Vries, Bert B, Schoots, Jeroen, Lugtenberg, Dorien, Hamel, Ben C J, van Bokhoven, Hans, Brunner, Han G, Veltman, Joris A, Kleefstra, Tjitske
Published in Journal of medical genetics (01.03.2012)
Published in Journal of medical genetics (01.03.2012)
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Journal Article
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
Bonthron, David T, Lindahl, Tomas, Ali, Manir, Ponsot, Gerard, Robins, Peter, Voit, Thomas, van Bokhoven, Hans, Barnes, Deborah E, Livingston, John H, Massey, Roger F, Crow, Yanick J, Parmar, Rekha, Lebon, Pierre, Jackson, Andrew P, Hayward, Bruce E, Hamel, Ben C, Leitch, Andrea, Klepper, Joerg, Cowan, Frances M, Frints, Suzanne G, Black, Deborah N, Lynch, Sally Ann, Meritet, Jean François, Brunner, Han G, Corry, Peter C, Michaud, Jacques L
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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Journal Article
Neuromuscular involvement in various types of Ehlers-Danlos syndrome
Voermans, Nicol C., van Alfen, Nens, Pillen, Sigrid, Lammens, Martin, Schalkwijk, Joost, Zwarts, Machiel J., van Rooij, Iris A., Hamel, Ben C. J., van Engelen, Baziel G.
Published in Annals of neurology (01.06.2009)
Published in Annals of neurology (01.06.2009)
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Journal Article
Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome
Voermans, Nicol C., MD, Knoop, Hans, PhD, van de Kamp, Nicole, MSc, Hamel, Ben C., MD, PhD, Bleijenberg, Gijs, PhD, van Engelen, Baziel G., MD, PhD
Published in Seminars in arthritis and rheumatism (01.12.2010)
Published in Seminars in arthritis and rheumatism (01.12.2010)
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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
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
Published in American journal of human genetics (01.03.2004)
Published in American journal of human genetics (01.03.2004)
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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome
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
Published in American journal of human genetics (01.08.2006)
Published in American journal of human genetics (01.08.2006)
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
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
Published in European journal of human genetics : EJHG (01.04.2009)
Published in European journal of human genetics : EJHG (01.04.2009)
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Journal Article
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Veltman, Joris A, 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, van Kessel, Ad Geurts
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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Journal Article
Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
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
Published in American journal of human genetics (01.12.2002)
Published in American journal of human genetics (01.12.2002)
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Journal Article
Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
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
Published in American journal of human genetics (01.09.2007)
Published in American journal of human genetics (01.09.2007)
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Journal Article
The clinical spectrum of complete FBN1 allele deletions
Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke, Moll, Henriette A, Breuning, Martijn H, Pals, Gerard
Published in European journal of human genetics : EJHG (01.03.2011)
Published in European journal of human genetics : EJHG (01.03.2011)
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Journal Article
Mutations in the Human TBX4 Gene Cause Small Patella Syndrome
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
Published in American journal of human genetics (01.06.2004)
Published in American journal of human genetics (01.06.2004)
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Journal Article
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8
Toydemir, Reha M., Chen, Harold, Proud, Virginia K., Martin, Rick, van Bokhoven, Hans, Hamel, Ben C. J., Tuerlings, Joep H., Stratakis, Constantine A., Jorde, Lynn B., Bamshad, Michael J.
Published in American journal of medical genetics. Part A (15.11.2006)
Published in American journal of medical genetics. Part A (15.11.2006)
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Journal Article
Neurologic Aspects of MECP2 Gene Duplication in Male Patients
Echenne, Bernard, MD, Roubertie, Agathe, MD, PhD, Lugtenberg, Dorien, PhD, Kleefstra, Titske, MD, PhD, Hamel, Ben C.J., MD, PhD, Van Bokhoven, Hans, PhD, Lacombe, Didier, MD, PhD, Philippe, Christophe, PhD, Jonveaux, Philippe, MD, PhD, de Brouwer, Arjan P.M., PhD
Published in Pediatric neurology (01.09.2009)
Published in Pediatric neurology (01.09.2009)
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Journal Article
ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation
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, van Reeuwijk, Jeroen, Nabuurs, Sander B., de Vries, Bert B.A., Hamel, Ben C.J., de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in American journal of human genetics (01.02.2006)
Published in American journal of human genetics (01.02.2006)
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Journal Article
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
Betsalel, Ofir T., van de Kamp, Jiddeke M., Martínez-Muñoz, Cristina, Rosenberg, Efraim H., de Brouwer, Arjan P. M., Pouwels, Petra J. W., van der Knaap, Marjo S., Mancini, Grazia M. S., Jakobs, Cornelis, Hamel, Ben C. J., Salomons, Gajja S.
Published in Neurogenetics (01.07.2008)
Published in Neurogenetics (01.07.2008)
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