Suchergebnisse

Zeitschriftenartikel (24)

1.
Zeitschriftenartikel
Kariminejad, R.; Lind-Thomsen, A.; Tumer, Z.; Erdogan, F.; Ropers, H. H.; Tommerup, N.; Ullmann, R.; Moller, R. S.: High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat 32 (12), S. 1427 - 35 (2011)
2.
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)
3.
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)
4.
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)
5.
Zeitschriftenartikel
Shoichet, S. A.; Waibel, S.; Endruhn, S.; Sperfeld, A. D.; Vorwerk, B.; Mümlller, I.; Erdogan, F.; Ludolph, A. C.; Ropers, H.-H.; Ullmann, R.: Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic Lateral Sclerosis 10 (3), S. 162 - 169 (2009)
6.
Zeitschriftenartikel
Chen, W.; Kalscheuer, V.; Tzschach, A.; Menzel, C.; Ullmann, R.; Schulz, M. H.; Erdogan, F.; Na, L.; Kijas, Z.; Arkesteijn, G. et al.; Pajares, I. L.; Goetz-Sothmann, M.; Heinrich, U.; Rost, I.; Dufke, A.; Grasshoff, U.; Glaeser, B.; Vingron, M.; Ropers, H. H.: Mapping translocation breakpoints by next-generation sequencing. Genome Research 18 (7), S. 1143 - 1149 (2008)
7.
Zeitschriftenartikel
Kirov, G.; Gumus, D.; Chen, W.; Norton, N.; Georgieva, L.; Sari, M.; O’Donovan, M. C.; Erdogan, F.; Owen, M. J.; Ropers, H.-H. et al.; Ullmann, R.: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human Molecular Genetics 17 (3), S. 458 - 465 (2008)
8.
Zeitschriftenartikel
Tzschach, A.; Kelbova, C.; Weidensee, S.; Peters, H.; Ropers, H.-H.; Ullmann, R.; Erdogan, F.; Jurkatis, J.; Menzel, C.; Kalscheuer, V. M. et al.; Demuth, S.: Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 29 (1), S. 37 - 40 (2008)
9.
Zeitschriftenartikel
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), S. 337 - 342 (2008)
10.
Zeitschriftenartikel
Erdogan, F.; Belloso, J. M.; Ajbro, K. D.; Guitart, M.; Ropers, H. H.; Tommerup, N.; Ullmann, R.; Tümer, Z.; Larsen, L. A.: Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. European Journal of Medical Genetics 51 (1), S. 81 - 86 (2008)
11.
Zeitschriftenartikel
Tzschach, A.; Chen, W.; Erdogan, F.; Hoeller, A.; Ropers, H.-H.; Castellan, C.; Ullmann, R.; Schinzel, A.: Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. American Journal of Medical Genetics Part A 146A (2), S. 197 - 203 (2008)
12.
Zeitschriftenartikel
Bartsch, O.; Vlccaronková, Z.; Erdogan, F.; Ullmann, R.; Novotná, D.; Spiegel, M.; Beyer, V.; Haaf, T.; Zechner, U.; Seemanová, E.: Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Cytogenetic and Genome Research 119 (1 - 2), S. 158 - 64 (2007)
13.
Zeitschriftenartikel
Ullmann, R.; Turner, G.; Kirchhoff, M.; Chen, W.; Tonge, B.; Rosenberg, C.; Field, M.; Vianna-Morgante, A. M.; Christie, L.; Krepischi-Santos, A. C. et al.; Banna, L.; Brereton, A. V.; Hill, A.; Bisgaard, A.-M.; Müller, I.; Hultschig, C.; Erdogan, F.; Wieczorek, G.; Ropers, H.-H.: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 28 (7), S. 674 - 682 (2007)
14.
Zeitschriftenartikel
Ullmann, R.; Turner, G.; Kirchhoff, M.; Chen, W.; Tonge, B.; Rosenberg, C.; Field, M.; Vianna-Morgante, A. M.; Christie, L.; Krepischi-Santos, A. C. et al.; Banna, L.; Brereton, A. V.; Hill, A.; Bisgaard, A.-M.; Müller, I.; Hultschig, C.; Erdogan, F.; Wieczorek, G.; Ropers, H.-H.: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Human Mutation: Variation, Databases, and Disease 28 (7) (2007)
15.
Zeitschriftenartikel
Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), S. 172 - 178 (2007)
16.
Zeitschriftenartikel
Erdogan, F.; Ullmann, R.; Chen, W.; Schubert, M.; Adolph, S.; Hultschig, C.; Kalscheuer, V. M.; Ropers, H.-H.; Spaich, C.; Tzschach, A.: Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 143 (2), S. 172 - 178 (2007)
17.
Zeitschriftenartikel
Tzschach, A.; Menzel, C.; Erdogan, F.; Schubert, M.; Hoeltzenbein, M.; Barbi, G.; Petzenhauser, C.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics 143 A (4), S. 333 - 337 (2007)
18.
Zeitschriftenartikel
Kalscheuer, V. M.; FitzPatrick, D.; Tommerup, N.; Bugge, M.; Niebuhr, E.; Neumann, L. M.; Tzschach, A.; Shoichet, S. A.; Menzel, C.; Erdogan, F. et al.; Arkesteijn, G.; Ropers, H.-H.; Ullmann, R.: Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics 121 (3-4), S. 501 - 509 (2007)
19.
Zeitschriftenartikel
Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), S. 247 - 253 (2006)
20.
Zeitschriftenartikel
Erdogan, F.; Chen, W.; Kirchhoff, M.; Kalscheuer, V. M.; Hultschig, C.; Müller, I.; Schulz, A.; Menzel, C.; Bryndorf, T.; Ropers, H.-H. et al.; Ullmann, R.: Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115 (3-4), S. 247 - 253 (2006)
Zur Redakteursansicht