Publikationen von L. R. Jensen

L. R. Jensen, W. Chen, B. Moser, B. Lipkowitz, C. Schroeder, L. Musante, A. Tzschach, V. M. Kalscheuer, I. Meloni, M. Raynaud, H. van Esch, J. Chelly, A. P. de Brouwer, A. Hackett, S. van der Haar, W. Henn, J. Gecz, O. Riess, M. Bonin, R. Reinhardt, H. H. Ropers, and A. W. Kuss, "Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1," Eur J Hum Genet 19 (6), 717-20 (2011).

C. Pak, M. Garshasbi, K. Kahrizi, C. Gross, L. H. Apponi, J. J. Noto, S. M. Kelly, S. W. Leung, A. Tzschach, F. Behjati, S. S. Abedini, M. Mohseni, L. R. Jensen, H. Hu, B. Huang, S. N. Stahley, G. Liu, K. R. Williams, S. Burdick, Y. Feng, S. Sanyal, G. J. Bassell, H. H. Ropers, H. Najmabadi, A. H. Corbett, K. H. Moberg, and A. W. Kuss, "Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans," Proc Natl Acad Sci U S A 108 (30), 12390-5 (2011).

C. B. Santos-Reboucas, N. Fintelman-Rodrigues, L. R. Jensen, A. W. Kuss, M. G. Ribeiro, M. Campos, J. M. Santos, and M. M. Pimentel, "A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay," Neurosci Lett 498 (1), 67-71 (2011).

Lars R. Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R. Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan P. M. de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, and Andreas W. Kuss, "A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C," Pathogenetics 3, 2-2 (2010).

Lars R. Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R. Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan P. M. de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, and Andreas W. Kuss, "A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.," Pathogenetics 2 (3), 2-2 (2010).

Suzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Victor Erik Macville, Kees van Roozendaal, Constance Theresia Rimbertha Maria Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean-Pierre Fryns, Ben Hame, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gecz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, and Andreas Walter Kuss, "MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.," European Journal of Human Genetics 16 (9), 1029-1037 (2008).

Mohammad Mahdi Motazacker, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasb, Kimia Kahriz, Reinhard Ullmann, Seyedeh Sedigheh Abedini, Sahar Esmaeeli Nieh, Saeid Hosseini Amini, Chandan Goswami, Andreas Tzschach, Lars Riff Jensen, Dietmar Schmitz, Hans-Hilger Ropers, Hossein Najmabadi, and Andreas Walter Kuss, "A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.," The American Journal of Human Genetics: AJHG 81 (4), 792-798 (2007).

Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Wei Chen, Farkhondeh Behjati, Valeh Hadavi, Sahar Esmaeeli Nieh, Seyedeh Sedigheh Abedini, Reza Vazifehmand, Saghar Ghasemi Firouzabadi, Payman Jamali, Masoumeh Falah, Seyed Morteza Seifati, Annette Grüters, Steffen Lenzner, Lars R. Jensen, Franz Rüschendorf, Andreas W. Kuss, and Hans-Hilger Ropers, "Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.," Human Genetics 121 (1), 43-48 (2007).

Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B. A. de Vries, Hans van Bokhoven, Hilde van Esch, Suzanne G. M. Frints, Guy Froyen, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, Laetitia Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gecz, Andreas W. Kuss, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers, and Ben C.J. Hamel, "Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium," Human Mutation 28 (2), 207-208 (2007).

Lars Riff Jensen, Steffen Lenzner, Bettina Mose, Kristine Freude, Andreas Tzschach, Wei Chen, Jean-Pierre Fryns, Jamel Chelly, Gillian Turner, Claude Moraine, Ben Hamel, Hans-Hilger Ropers, and Andreas walter Kuss, "X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11," European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (1), 68-75 (2007).

Lars Riff Jensen, Steffen Lenzner, Bettina Mose, Kristine Freude, Andreas Tzschach, Wei Chen, Jean-Pierre Fryns, Jamel Chelly, Gillian Turner, Claude Moraine, Ben Hamel, Hans-Hilger Ropers, and Andreas walter Kuss, "X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11," European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (1), 68-75 (2007).

Bartlomiej Budny, Wei Chen, Heymut Omran, Manfred Fliegauf, Andreas Tzschach, Marzena Wisniewska, Lars R. Jensen, Martine Raynaud, Sarah A. Shoichet, Magda Badura, Steffen Lenzner, Anna Latos-Bielenska, and Hans-Hilger Ropers, "A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome," Human Genetics 120 (2), 171-178 (2006).

Andreas Tzschach, Steffen Lenzner, Bettina Moser, Richard Reinhardt, Jamel Chelly, Jean-Pierre Fryns, Tjitske Kleefstra, Martine Raynaud, Gillian Turner, Hans-Hilger Ropers, Andreas Kuss, and Lars Riff Jensen, "Novel JARID1C/SMCX mutations in patients with X-linked mental retardation," Human Mutation 27 (4), 389-389 (2006).

Andreas Tzschach, Steffen Lenzner, Bettina Moser, Richard Reinhardt, Jamel Chelly, Jean-Pierre Fryns, Tjitske Kleefstra, Martine Raynaud, Gillian Turner, Hans-Hilger Ropers, Andreas Kuss, and Lars Riff Jensen, "Novel JARID1C/SMCX mutations in patients with X-linked mental retardation," Human Mutation 27 (4), 389-389 (2006).

Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimme, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, Ben Hame, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans-Hilger Ropers, and Steffen Lenzner, ": Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation," American Journal of Human Genetics 76 (2), 227-236 (2005).

Lars Riff Jensen, Marion Amende, Ulf Gurok, Bettina Moser, Verena Gimme, Andreas Tzschach, Andreas R. Janecke, Gholamali Tariverdian, Jamel Chelly, Jean-Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, Ben Hame, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans-Hilger Ropers, and Steffen Lenzner, ": Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation," American Journal of Human Genetics 76 (2), 227-236 (2005).

Kristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, Martin B. Delatycki, Vincent des Portes, Bettina Moser, Ben Hamel, Hans van Bokhoven, Claude Moraine, Jean-Pierre Fryns, Jamel Chelly, Jozef Gécz, Steffen Lenzner, Vera M. Kalscheuer, and Hans-Hilger Ropers, "Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation," American Journal of Human Genetics 75 (2), 305-309 (2004).

Vera M. Kalscheuer, Kristine Freude, Luciana Musante, Lars R. Jensen, Helger G. Yntema, Jozef Gecz, Abdelaziz Sefiani, Kirsten Hoffmann, Bettina Moser, Stefan Haas, Ulf Gurok, Sebastian Haesler, Beatriz Aranda, Arpik Nshedjan, Andreas Tzschach, Nils Hartmann, Tim-Christoph Roloff, Sarah Shoichet, Olivier Hagens, Jiong Tao, Hans van Bokhoven, Gillian Turner, Jamel Chelly, Claude Moraine, Jean-Pierre Fryns, Ulrike Nuber, Maria Hoeltzenbein, Constance Scharff, Harry Scherthan, Steffen Lenzner, Ben C. J. Hamel, Susann Schweiger, and Hans-Hilger Ropers, "Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation," Nature Genetics 35 (4), 313-315 (2003).

Zeynep Tümer, Peter J. P. Croucher, Lars Riff Jensen, Jochen Hampe, Claus Hansen, Vera Kalscheuer, Hans Hilger Ropers, Niels Tommerup, and Stefan Schreiber, "Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)," Gene 288 (1-2), 179-185 (2002).