Publikationen von H. H. Ropers

Zeitschriftenartikel (204)

61.
Zeitschriftenartikel
Rafiq, M. A.; Kuss, A. W.; Puettmann, L.; Noor, A.; Ramiah, A.; Ali, G.; Hu, H.; Kerio, N. A.; Xiang, Y.; Garshasbi, M. et al.; Khan, M. A.; Ishak, G. E.; Weksberg, R.; Ullmann, R.; Tzschach, A.; Kahrizi, K.; Mahmood, K.; Naeem, F.; Ayub, M.; Moremen, K. W.; Vincent, J. B.; Ropers, H. H.; Ansar, M.; Najmabadi, H.: Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 89 (1), S. 176 - 82 (2011)
62.
Zeitschriftenartikel
Strobl-Wildemann, G.; Kalscheuer, V. M.; Hu, H.; Wrogemann, K.; Ropers, H. H.; Tzschach, A.: Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 155A (12), S. 3067 - 70 (2011)
63.
Zeitschriftenartikel
Kuss, A. W.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Behjati, F.; Darvish, H.; Abbasi-Moheb, L.; Puettmann, L.; Zecha, A.; Weißmann, R. et al.; Hu, H.; Mohseni, M.; Abedini, S. S.; Rajab, A.; Hertzberg, C.; Wieczorek, D.; Ullmann, R.; Saghar Ghasemi-Firouzabadi, S.; Banihashemi, S.; Arzhangi, S.; Hadavi, V.; Bahrami-Monajemi, G.; Kasiri, M.; Falah, M.; Nikuei, P.; Dehghan, A.; Sobhani, M.; Jamali, P.; Ropers, H.-H.; Najmabadi, H.: Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots. Human Genetics 129 (2), S. 141 - 148 (2010)
64.
Zeitschriftenartikel
Darvish, H. ..; Nieh, S. E.; Monajemi, G. B.; Mohseni, M.; Ghasemi-Firouzabadi, S.; Abedini, S. S.; Bahman, I.; P Jamali, P.; Azimi, S.; Mojahedi, F. et al.; Dehghan, A.; Shafeghati, Y.; Jankhah, A.; Falah, M.; Soltani Banavandi, M. J.; Ghani-Kakhi, M.; Garshasbi, M.; Rakhshani, F.; Naghavi, A.; Tzschach, A.; Neitzel, H.; Ropers, H.-H.; Kuss, A. W.; Behjati, F.; Kahrizi, K.; Najmabadi, H.: A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics. 47 (12), S. 823 - 828 (2010)
65.
Zeitschriftenartikel
Kim, H.-G.; Ahn, J.-W.; Kurth, I.; Ullmann, R.; Kim, H.-T.; Kulharya, A.; Ha, K.-S.; Itokawa, Y.; Meliciani, I.; Wolfgang Wenzel, W. W. et al.; Lee, D.; Rosenberger, G.; Ozata, M.; Bick, D. P.; Sherins, R. J.; Nagase, T.; Tekin, M.; Kim, S.-H.; Kim, C.-H.; Ropers, H.-H.; Gusella, J. F.; Kalscheuer, V. M.; Choi, C. Y.; Layman, L. C.: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics 87 (4), S. 465 - 479 (2010)
66.
Zeitschriftenartikel
Endele, S.; Rosenberger, G.; Geider, K.; Popp, B.; Tamer, C.; Stefanova, I.; Milh, M.; Kortüm, F.; Fritsch, A.; Pientka, F. K. et al.; Hellenbroich, Y.; Kalscheuer, V. M.; Kohlhase, J.; Moog, U.; Rappold, G.; Rauch, A.; Ropers, H.-H.; von Spiczak, S.; Tönnies, H.; Villeneuve, N.; Villard, L.; Zabel, B.; Zenker, M.; Laube, B.; Reis, A.; Wieczorek, D.; Van Maldergem, L.; Kutsche, K.: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics. 42 (11), S. 1021 - 1026 (2010)
67.
Zeitschriftenartikel
Kariminejad, A.; Kariminejad, R.; Tzschach, A.; Najafi, H.; Ahmed, A.; Ullmann, R.; Ropers, H.-H.; Kariminejad, M. H.: 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features. American Journal of Medical Genetics. Part A. 152A (10), S. 2651 - 2655 (2010)
68.
Zeitschriftenartikel
Kahrizi, K.; Hu, C. H.; Garshasbi, M.; Abedini, S. S.; Ghadami, S.; Kariminejad, R.; Ullmann, R.; Chen, W.; Ropers, H.-H.; Kuss, A. W. et al.; Najmabadi, H.; Tzschach, A.: Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics 19, S. 115 - 117 (2010)
69.
Zeitschriftenartikel
Shafeghati, Y.; Kahrizi, K.; Najmabadi, H.; Kuss, A. W.; Ropers, H.-H.; Tzschach, A.: Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature. European Journal of Pediatrics 169 (12), S. 1535 - 1539 (2010)
70.
Zeitschriftenartikel
Thorwarth, A.; Mueller, I.; Biebermann, H.; Ropers, H.-H.; Grueters, A.; Krude, H.; Ullmann, R.: Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. The Journal of Clinical Endocrinology & Metabolism 95 (7), S. 3446 - 3452 (2010)
71.
Zeitschriftenartikel
Walczak-Sztulpa, J.; Eggenschwiler, J.; Osborn, D.; Brown, D. A.; Emma, F.; Klingenberg, C.; Hennekam, R. C.; Torre, G.; Garshasbi, M.; Tzschach, A. et al.; Szczepanska, M.; Krawczynski, M.; Zachwieja, J.; Zwolinska, D.; Beales, P. L.; Ropers, H.-H.; Latos-Bielenska, A.; Kuss, A. W.: Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American Journal of Human Genetics 86 (6), S. 949 - 956 (2010)
72.
Zeitschriftenartikel
Goswami, C.; Rademacher, N.; Smalla, K.-H.; Kalscheuer, V. M.; Ropers, H.-H.; Gundelfinger, E. D.; Hucho, T.: TRPV1 acts as a synaptic protein and regulates vesicle recycling. Journal of Cell Science 123 (12), S. 2045 - 2057 (2010)
73.
Zeitschriftenartikel
Hu, H.; Wrogemann, K.; Kalscheuer, V. M.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.-H.; Chen, W.: Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 3 (1-4), S. 83 - 83 (2010)
74.
Zeitschriftenartikel
Tzschach, A.; Menzel, C.; Erdogan, F.; Istifli, E. S.; Rieger, M.; Ovens-Raeder, A.; Macke, A.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 152A (4), S. 1008 - 1012 (2010)
75.
Zeitschriftenartikel
Lesch, K.-P.; Selch, S.; Renner, T. J.; Jacob, C.; Nguyen, T. T.; Hahn, T.; Romanos, M.; Walitza, S.; Shoichet, S.; Dempfle, A. et al.; Heine, M.; Boreatti-Hümmer, A.; Romanos, J.; Gross-Lesch, S.; Zerlaut, H.; Wultsch, T.; Heinzel, S.; Fassnacht, M.; Fallgatter, A.; Allolio, B.; Schäfer, H.; A Warnke, A.; Reif, A. ..; Ropers, H.-H.; Ullmann, R.: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree1. Molecular Psychiatry, S. 1 - 13 (2010)
76.
Zeitschriftenartikel
Budny, B.; Badura-Stronka, M.; Materna-Kiryluk, A.; Tzschach, A.; Raynaud, M.; Latos-Bielenska, A.; Ropers, H.-H.: Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. Clinical Genetics: an International Journal of Genetics in Medicine 77 (6), S. 541 - 551 (2010)
77.
Zeitschriftenartikel
Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), S. 291 - 295 (2010)
78.
Zeitschriftenartikel
Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), S. 291 - 295 (2010)
79.
Zeitschriftenartikel
Trimborn, M.; Ghani, M.; Walther, D. J.; Dopatka, M.; Dutrannoy, V.; Busche, A.; Meyer, F.; Nowak, S.; Nowak, J. N.; Zabel, C. et al.; Klose, J.; Esquitino, V.; Garshasbi, M.; Kuss, A. W.; Ropers, H.-H.; Mueller, S.; Poehlmann, C.; Gavvovidis, I.; Schindler, D.; Sperling, K.; Neitzel, H.: Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS ONE 5 (2), S. e9242. - e9242. (2010)
80.
Zeitschriftenartikel
Giannandrea, M.; Bianchi, V.; Mignogna, M. L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L. et al.; Ropers, H.-H.; Tzschach, A.; Kalscheuer, V. M.; Oehl-Jaschkowitz, B.; Schwartz, C. E.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; de Brouwer, A. P.M.; Toniolo, D.; D'Adamo, P.: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 86 (2), S. 185 - 195 (2010)
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