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Journal Article (32)

21.
Journal Article
Jensen, L. R.; Bartenschlager, H.; Rujirabanjerd, S.; Tzschach, A.; Nümann, A.; Janecke, A. R.; Spörle, R.; Stricker, S.; Raynaud, M.; Nelson, J. et al.; Hackett, A.; Fryns, J.-P.; Chelly, J.; de Brouwer, A. P. M.; Hamel, B.; Gecz, J.; Ropers, H.-H.; Kuss, A. W.: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C. Pathogenetics 2 (3), p. 2 - 2 (2010)
22.
Journal Article
Mir, A.; Kaufman, L.; Noor, A.; Motazacker, M. M.; Jamil, T.; Azam, M.; Kahrizi, K.; Rafiq, M. A.; Weksberg, R.; Nasr, T. et al.; Naeem, F.; Tzschach, A.; Kuss, A. W.; Ishak, G. E.; Doherty, D.; Ropers, H.-H.; Barkovich, A. J.; Najmabadi, H.; Ayub, M.; Vincent, J. B.: Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation. American Journal of Human Genetics 85 (6), pp. 909 - 915 (2009)
23.
Journal Article
Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, p. e1000487 - e1000487 (2009)
24.
Journal Article
Tzschach, A.; Bozorgmehr, B.; Hadavi, V.; Kahrizi, K.; Garshasbi, M.; Motazacker, M. M.; Ropers, H.-H.; Kuss, A.; Najmabad, H.: Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 159 (3), pp. 748 - 751 (2008)
25.
Journal Article
Walczak-Sztulpa, J.; Wisniewska, M.; Latos-Bielenska, A.; Linné, M.; Kelbova, C.; Belitz, B.; Pfeiffer, L.; Kalscheuer, V. M.; Erdogan, F.; Kuss, A. W. et al.; Ropers, H.-H.; Ullmann, R.; Tzschach, A.: Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 146 (3), pp. 337 - 342 (2008)
26.
Journal Article
Chen, W.; Jensen, L. R.; Gecz, J.; Fryns, J.-P.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.-H.; Kuss, A. W.: Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (3), pp. 375 - 378 (2007)
27.
Journal Article
Chen, W.; Jensen, L. R.; Gecz, J.; Fryns, J.-P.; Moraine, C.; de Brouwer, A.; Chelly, J.; Moser, B.; Ropers, H.-H.; Kuss, A. W.: Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 15 (3), pp. 375 - 378 (2007)
28.
Journal Article
Najmabadi, H.; Motazacker, M. M.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Chen, W.; Behjati, F.; Hadavi, V.; Nieh, S. E.; Abedini, S. S. et al.; Vazifehmand, R.; Firouzabadi, S. G.; Jamali, P.; Falah, M.; Seifati, S. M.; Grüters, A.; Lenzner, S.; Jensen, L. R.; Rüschendorf, F.; Kuss, A. W.; Ropers, H.-H.: 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), pp. 43 - 48 (2007)
29.
Journal Article
de Brouwer, A. P.M.; Yntema, H. G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A. R.; de Vries, B. B. A.; van Bokhoven, H.; van Esch, H.; Frints, S. G. M.; Froyen, G. et al.; Fryns, J.-P.; Raynaud, M.; Moizard, M.-P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; des Portes, V.; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A. W.; Tzschach, A.; Jensen, L. R.; Lenzner, S.; Kalscheuer, V. M.; Ropers, H.-H.; Hamel, B. C.J.: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 28 (2), pp. 207 - 208 (2007)
30.
Journal Article
Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.-P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.-H. et al.; Kuss, A.; Jensen, L. R.: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 27 (4), p. 389 - 389 (2006)
31.
Journal Article
Tzschach, A.; Lenzner, S.; Moser, B.; Reinhardt, R.; Chelly, J.; Fryns, J.-P.; Kleefstra, T.; Raynaud, M.; Turner, G.; Ropers, H.-H. et al.; Kuss, A.; Jensen, L. R.: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 27 (4), p. 389 - 389 (2006)
32.
Journal Article
Garshasbi, M.; Motazacker, M. M.; Kahrizi, K.; Behjati, F.; Abedini, S. S.; Nieh, S. E.; Firouzabadi, S. G.; Becker, C.; Rüschendorf, F.; Nürnberg, P. et al.; Tzschach, A.; Vazifehmand, R.; Erdogan, F.; Ullmann, R.; Lenzner, S.; Kuss, A. W.; Ropers, H.-H.; Najmabadi, H.: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics 118 (6), pp. 708 - 715 (2006)
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