Publikationen von Reinhard Ullmann

Zeitschriftenartikel (119)

81.
Zeitschriftenartikel
Gilling, M.; Lauritsen, M. B.; Møller, M.; Henriksen, K. F.; Vicente, A.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P. S.; Mors, O. et al.; Rosenberg, T.; Brøndum-Nielsen, K.; Cotterill, R. M. J.; Lundsteen, C.; Ropers, H.-H.; Ullmann, R.; Bache, I.; Tümer, Z.; Tommerup, N.: A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. European Journal of Human Genetics 16 (3), S. 312 - 319 (2008)
82.
Zeitschriftenartikel
Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), S. 370 - 375 (2008)
83.
Zeitschriftenartikel
Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), S. 370 - 375 (2008)
84.
Zeitschriftenartikel
Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), S. 370 - 375 (2008)
85.
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)
86.
Zeitschriftenartikel
Raile, K.; Klopocki, E.; Wessel, T.; Deiss, D.; Horn, D.; Müller, D.; Ullmann, R.; Grüters, A.: HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 31, S. e83 - e83 (2008)
87.
Zeitschriftenartikel
So, J.; Müller, I.; Kunath, M.; Herrmann, S.; Ullmann, R.; Schweiger, S.: Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A 146A (1), S. 103 - 109 (2008)
88.
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)
89.
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)
90.
Zeitschriftenartikel
Møller, R. S.; Hansen, C. P.; Jackson, G. D.; Ullmann, R.; Ropers, H.-H.; Tommerup, N.; Tümer, Z.: Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clinical Genetics 72 (6), S. 593 - 598 (2007)
91.
Zeitschriftenartikel
Mefford, H. C.; Clauin, S.; Sharp, A. J.; Moller, R. S.; Ullmann, R.; Kapur, R.; Pinkel, D.; Cooper, G. M.; Ventura, M.; Ropers, H.-H. et al.; Tommerup, N.; Eichler, E. E.; Bellanne-Chantelot, C.: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy. American Journal of Human Genetics: AJHG 81 (5), S. 1057 - 1069 (2007)
92.
Zeitschriftenartikel
Motazacker, M. M.; Rost, B. R.; Hucho, T.; Garshasb, M.; Kahriz, K.; Ullmann, R.; Abedini, S. S.; Nieh, S. E.; Amini, S. H.; Goswami, C. et al.; Tzschach, A.; Jensen, L. R.; Schmitz, D.; Ropers, H.-H.; Najmabadi, H.; Kuss, A. W.: 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), S. 792 - 798 (2007)
93.
Zeitschriftenartikel
Jakobsen, L. P.; Ullmann, R.; Christensen, S. B. ..; Jensen, K. E.; Mølsted, K.; Henriksen, K. F. ..; Hansen, C.; Knudsen, M. A.; Larsen, L. A.; Tommerup, N. et al.; Tümer, Z.: Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. Druckausga 44 (6), S. 381 - 386 (2007)
94.
Zeitschriftenartikel
Jakobsen, L. P.; Ullmann, R.; Kjaer, K. W.; Knudsen, M. A.; Tommerup, N.; Eiberg, H.: Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. American Journal of Medical Genetics Part A 143 (22), S. 2716 - 2721 (2007)
95.
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)
96.
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)
97.
Zeitschriftenartikel
Bisgaard, A.-M.; Kirchhoff, M.; Nielsen, J. E.; Brandt, C.; Hove, H.; Jepsen, B.; Jensen, T.; Ullmann, R.; Skovby, F.: Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants? European Journal of Medical Genetics 50 (4), S. 243 - 255 (2007)
98.
Zeitschriftenartikel
Meyer, S.; Fergusson, W. D.; Whetton, A. D.; Moreira-Leite, F.; Pepper, S. D.; Miller, C.; Saunders, E. K.; White, D. J.; Will, A. M.; Eden, T. et al.; Ikeda, H.; Ullmann, R.; Tuerkmen, S.; Gerlach, A.; Klopocki, E.; Tönnies, H.: Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. Genes, Chromosomes and Cancer 46 (4), S. 359 - 372 (2007)
99.
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)
100.
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)
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