Veröffentlichungen Dr. Detlef Boehm
Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. (2010). Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet.
Unger, S.; Boehm, D.; Boehm, J.; Kaiser, F.; Kaulfuß, S.; Borozdin, W.; Buiting, K.; Burfeind, P.; Borowski, K.; Keppler-Noreuil, K.; Schmitt-Mechelke, T.; Steiner, B.; Bartholdi, D.; Lemke, J.; Mortier, G.; Sandford, R.; Zabel, B.; Superti-Furga, A.; Kohlhase, J. (2008) "Mutations in the Cyclin family member FAM58A cause a novel X-linked dominant disorder characterized by syndactyly, telecanthus, anogenital and renal malformations (STAR syndrome)." Nat Genet 40(3) : 287-289.
Schubert, S.; Kamino, K.; Boehm, D.; Engel, W.; von Wasielewski, R.; Moharregh-Khiabani, D.; Maucerci, G.; Vaske, B.; Meinhardt, A.; Schöner, A.; Gonzales-Fassrainer, D.; Schmidke, J. (2008). "TSPY expression is variably altered in transgenic mice with testicular feminization." Biol Reprod (accepted).
Fischer, S.; Kohlhase, J.; Boehm, D.; Heitmann, M.; Horsthemke, B.; Wieczorek, D. (2008). "Biallelic loss of function of PLZF causes severe skeletal defects and genital hypoplasia." (submitted)
Boehm, D.; Bacher, J.; Neumann, H. P. (2007a). "Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay." Am J Kidney Dis 49(1): e11-21
Sauter, S. M.; Boehm, D.; Bartels, I.; Burfeind, P.; Laccone, F. A.; Neesen, J.; Wilken, B.; Liehr, T.; Zoll, B. (2007b). "Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay. " Am J Med Genet A 143(10): 1091-1099.
Borozdin, W.; Graham, Jr, J. M.; Boehm, D.; Bamshad, M. J.; Spranger, S.; Burke, L.; Leipoldt, M.; Kohlhase, J. (2007c). "Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay." Hum Mutat 28(8): 830.
Bausch, B.; Borozdin, W.; Mautner, V. F.; Hoffmann, M. M.; Boehm, D.; Robledo, M. et al. (2007d). "Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1." J Clin Endocrinol Metab 92(7): 2784-2792.
Tseden, K.; Topaloglu, O.; Meinhardt, A.; Dev, A.; Adham, I.; Muller, C.; Wolf, S.; Boehm, D.; Schluter, G.; Engel, W.; Nayernia, K. (2007e) "Premature translation of transition protein 2 mRNA causes sperm abnormalities and male infertility." Mol Reprod Dev 74(3): 273-279.
Jaroszynski, L., Dev, A., Li, M., Meinhardt, A., de Rooij, D. G., Mueller, C., Boehm, D., Wolf, S., Adham, I. M., Wulf, G., Engel, W., Nayernia, K. (2007f). "Asthenoteratozoospermia in mice lacking testis expressed gene 18 (Tex18)." Mol Hum Reprod 13( 3):155-163.
Boehm D., F. Laccone, P. Burfeind, S. Herold, C. Schubert, B. Zoll, J. Manner, H.U. Pauer and I. Bartels (2006a). "Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q." Prenat Diagn 26(3):286-290.
Boehm D., K. Hoffmann, F. Laccone, B. Wilken, P. Dechent, J. Frahm, I. Bartels and S.K. Bohlander (2006b). "Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion." Am J Med Genet 140(4):37882.
Diaconu, M., Tangat, Y., Boehm, D., Kuhn, H., Michelmann, H. W., Schreiber, G., Haidl, G., Glander, H. J., Engel, W., Nayernia, K. (2006c). "Failure of phospholipid hydroperoxide glutathione peroxidase expression in oligoasthenozoospermia and mutations in the PHGPx gene. " Andrologia 38(4 ):152-157.
Borozdin, W., D. Boehm, M. Leipoldt, C. Wilhelm, W. Reardon, J. Clayton-Smith, K. Becker, H. Muhlendyck, R. Winter, O. Giray, F. Silan and J. Kohlhase (2004a). "SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism." J Med Genet 41(9): e113.
Boehm, D., S. Herold, A. Kuechler, T. Liehr and F. Laccone (2004b). "Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye." Hum Mutat 23(4): 368-78.
Meins, M., D. Boehm, A. Grossmann, E. Herting, B. Fleckenstein, C. Fauth, M. R. Speicher, R. Schindler, B. Zoll, I. Bartels and P. Burfeind (2004c). "First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter --> q22.1::q22.1 --> pter) is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q- syndrome." Am J Med Genet 127A(1): 58-64.
Boehm, D., H. Schwegler, L. Kotthaus, K. Nayernia, M. Rickmann, M. Kohler, J. Rosenbusch, W. Engel, G. Flugge and P. Burfeind (2002). "Disruption of PLC-beta 1-mediated signal transduction in mutant mice causes age-dependent hippocampal mossy fiber sprouting and neurodegeneration." Mol Cell Neurosci 21(4): 584-601.
Trappe, R., D. Boehm, J. Kohlhase, A. Weise, T. Liehr, G. Essers, M. Meins, B. Zoll, I. Bartels and P. Burfeind (2002). "A novel family-specific translocation t(2;20)(p24.1;q13.1) associated with recurrent abortions: molecular characterization and segregation analysis in male meiosis." Cytogenet Genome Res 98(1): 1-8.
Nayernia, K., D. Boehm, O. Topaloglu, G. Schluter and W. Engel (2001a). "Rat transition nuclear protein 2 regulatory region directs haploid expression of reporter gene in male germ cells of transgenic mice." Mol Reprod Dev 58(4): 368-75.
Tascou, S., K. Nayernia, J. Uedelhoven, D. Boehm, R. Jalal, M. Ahmed, W. Engel and P. Burfeind (2001b). "Isolation and characterization of differentially expressed genes in invasive and non-invasive immortalized murine male germ cells in vitro." Int J Oncol 18(3): 567-74.
Boehm, D. (2001c). „Phänotypische und molekulare Analyse einer Maus mit Insertionsmutation und axonaler Reorganisation im Hippocampus.“ Institut für Humangenetik Göttingen, Georg-August Universität, Dissertation: 1-193.
Boehm, D., M. Krawczak and J. Schmidtke (1988). "Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus." Hum Genet 78(2): 186-7.
