Kliniken & Institute … Institute Institute of Human… Research Publikationen 2011

Publications 2011

ALLANSON, J. E., R. C. HENNEKAM, U. MOOG and E. E. SMEETS, 2011 Rett syndrome: a study of the face. Am J Med Genet A 155A: 1563-1567.


BACON, C., V. ENDRIS, I. ANDERMATT, V. NIEDERKOFLER, R. WALTEREIT et al., 2011 Evidence for a role of srGAP3 in the positioning of commissural axons within the ventrolateral funiculus of the mouse spinal cord. PLoS One 6: e19887.


BEHNECKE, A., K. HINDERHOFER, O. BARTSCH, A. NUMANN, M. L. IPACH et al., 2011a Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature. Am J Med Genet A 155A: 372-379.


BEHNECKE, A., K. HINDERHOFER, A. JAUCH, J. JANSSEN and U. MOOG, 2011b Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13). Clin Genet.


BERKEL, S., W. TANG, M. TREVINO, M. VOGT, H. A. OBENHAUS et al., 2011 Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. Hum Mol Genet.


BEYER, T., M. DANILCHIK, T. THUMBERGER, P. VICK, M. TISLER et al., 2011 Serotonin Signaling Is Required for Wnt-Dependent GRP Specification and Leftward Flow in Xenopus. Curr Biol.


BOCHTLER, T., U. HEGENBART, C. HEISS, A. BENNER, M. MOOS et al., 2011 Hyperdiploidy is less frequent in AL amyloidosis compared with monoclonal gammopathy of undetermined significance and inversely associated with translocation t(11;14). Blood 117: 3809-3815.


BRODERICK, P., D. CHUBB, D. C. JOHNSON, N. WEINHOLD, A. FORSTI et al., 2011 Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat Genet.


COX, D. G., J. SIMARD, D. SINNETT, Y. HAMDI, P. SOUCY et al., 2011 Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum Mol Genet 20: 4732-4747.


DECKER, E., C. DURAND, S. BENDER, C. RODELSPERGER, A. GLASER et al., 2011 FGFR3 is a target of the homeobox transcription factor SHOX in limb development. Hum Mol Genet 20: 1524-1535.


DICK, M. G., B. VERSMOLD, C. ENGEL, A. MEINDL, N. ARNOLD et al., 2011 Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers. Int J Cancer.


DURAND, C., R. ROETH, H. DWEEP, I. VLATKOVIC, E. DECKER et al., 2011 Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. PLoS One 6: e18115.


ECKERT, C., T. FLOHR, R. KOEHLER, N. HAGEDORN, A. MOERICKE et al., 2011 Very early/early relapses of acute lymphoblastic leukemia show unexpected changes of clonal markers and high heterogeneity in response to initial and relapse treatment. Leukemia 25: 1305-1313.


EMONS, J., B. E. DUTILH, E. DECKER, H. PIRZER, C. STICHT et al., 2011 Genome-wide screening in human growth plates during puberty in one patient suggests a role for RUNX2 in epiphyseal maturation. J Endocrinol 209: 245-254.


ENDRIS, V., L. HAUSSMANN, E. BUSS, C. BACON, D. BARTSCH et al., 2011 SrGAP3 interacts with lamellipodin at the cell membrane and regulates Rac-dependent cellular protrusions. J Cell Sci 124: 3941-3955.


EVERS, C., P. H. HEIDEMANN, D. DUNSTHEIMER, E. SCHULZE, C. HAAG et al., 2011 Pseudoautosomal inheritance of Leri-Weill syndrome: what does it mean? Clin Genet 79: 489-494.


FINKE, E., R. HAGE, A. DONNIO, C. BOMAHOU, J. GUYOMARCH et al., 2011 [Retrobulbar optic neuropathy and non-Hodgkin lymphoma.]. J Fr Ophtalmol.


FISCHER, C., C. ENGEL, C. SUTTER, S. ZACHARIAE, R. SCHMUTZLER et al., 2011 BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet.


GRASSHOFF, U., M. BONIN, I. GOEHRING, A. EKICI, A. DUFKE et al., 2011 De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet 19: 507-512.


HELLEBRAND, H., C. SUTTER, E. HONISCH, E. GROSS, B. WAPPENSCHMIDT et al., 2011 Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Hum Mutat 32: E2176-E2188.


HOSE, D., T. REME, T. HIELSCHER, J. MOREAUX, T. MESSNER et al., 2011 Proliferation is a central independent prognostic factor and target for personalized and risk-adapted treatment in multiple myeloma. Haematologica 96: 87-95.


KANT, S. G., H. J. VAN DER KAMP, M. KRIEK, E. BAKKER, B. BAKKER et al., 2011 The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. J Clin Endocrinol Metab 96: E356-359.


KAPELLER, J., D. MOLLER, F. LASITSCHKA, F. AUTSCHBACH, R. HOVIUS et al., 2011 Serotonin receptor diversity in the human colon: Expression of serotonin type 3 receptor subunits 5-HT3C, 5-HT3D, and 5-HT3E. J Comp Neurol 519: 420-432.


KASSAMBARA, A., D. HOSE, J. MOREAUX, B. A. WALKER, A. PROTOPOPOV et al., 2011 Genes with a spike expression are clustered in chromosome (sub)bands and spike (sub)bands have a powerful prognostic value in patients with multiple myeloma. Haematologica.


KIETZMANN, A., Y. WANG, D. WEBER and H. STEINBEISSER, 2011 Xenopus paraxial protocadherin inhibits Wnt/beta-catenin signalling via casein kinase 2beta. EMBO Rep.


KILPATRICK, L. A., J. S. LABUS, K. COVELESKIE, C. HAMMER, G. RAPPOLD et al., 2011 The HTR3A Polymorphism c. -42C>T Is Associated With Amygdala Responsiveness in Patients With Irritable Bowel Syndrome. Gastroenterology.


KLEIN, U., A. JAUCH, T. HIELSCHER, J. HILLENGASS, M. S. RAAB et al., 2011 Chromosomal aberrations +1q21 and del(17p13) predict survival in patients with recurrent multiple myeloma treated with lenalidomide and dexamethasone. Cancer 117: 2136-2144.


KOELSCH, B., B. WINZEN-REICHERT, C. FISCHER, A. KUTRITZ, L. VAN DEN BERG et al., 2011 Sex-biased suppression of chemically induced neural carcinogenesis in congenic BDIX.BDIV-Mss4a rats. Physiol Genomics 43: 631-639.


MAVADDAT, N., D. BARROWDALE, I. L. ANDRULIS, S. M. DOMCHEK, D. ECCLES et al., 2011 Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev.


MAXWELL, C. A., J. BENITEZ, L. GOMEZ-BALDO, A. OSORIO, N. BONIFACI et al., 2011 Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer. PLoS Biol 9: e1001199.


MELUM, E., A. FRANKE, C. SCHRAMM, T. J. WEISMULLER, D. N. GOTTHARDT et al., 2011 Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. Nat Genet 43: 17-19.


MILNE, R. L., E. L. GOODE, M. GARCIA-CLOSAS, F. J. COUCH, G. SEVERI et al., 2011 Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Cancer Epidemiol Biomarkers Prev 20: 2222-2231.


MOOG, U., K. KUTSCHE, F. KORTUM, B. CHILIAN, T. BIERHALS et al., 2011 Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet 48: 741-751.


MOREAUX, J., B. KLEIN, R. BATAILLE, G. DESCAMPS, S. MAIGA et al., 2011 A high-risk signature for patients with multiple myeloma established from the molecular classification of human myeloma cell lines. Haematologica 96: 574-582.


MULLIGAN, A. M., F. J. COUCH, D. BARROWDALE, S. M. DOMCHEK, D. ECCLES et al., 2011 Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 13: R110.


NEBEN, K., H. M. LOKHORST, A. JAUCH, U. BERTSCH, T. HIELSCHER et al., 2011 Administration of bortezomib before and after autologous stem-cell transplantation improves outcome in multiple myeloma patients with deletion 17p. Blood.


NIESLER, B., 2011 5-HT(3) receptors: potential of individual isoforms for personalised therapy. Curr Opin Pharmacol 11: 81-86.


OEXLE, K., M. HEMPEL, A. JAUCH, T. MEITINGER, N. RIVERA-BRUGUES et al., 2011 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome. Eur J Med Genet 54: 225-230.


PFARR, N., J. SZAMALEK-HOEGEL, C. FISCHER, K. HINDERHOFER, C. NAGEL et al., 2011 Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. Respir Res 12: 99.


RAMUS, S. J., C. KARTSONAKI, S. A. GAYTHER, P. D. PHAROAH, O. M. SINILNIKOVA et al., 2011 Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 103: 105-116.


RAN, D., M. SCHUBERT, I. TAUBERT, V. ECKSTEIN, F. BELLOS et al., 2011 Heterogeneity of leukemia stem cell candidates at diagnosis of acute myeloid leukemia and their clinical significance. Exp Hematol.


SCHNEIDER, K. U., D. DIETRICH, M. FLEISCHHACKER, G. LESCHBER, J. MERK et al., 2011 Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors. BMC Cancer 11: 102.


SCHRAPPE, M., M. G. VALSECCHI, C. R. BARTRAM, A. SCHRAUDER, R. PANZER-GRUMAYER et al., 2011 Late MRD response determines relapse risk overall and in subsets of childhood T-cell ALL: results of the AIEOP-BFM-ALL 2000 study. Blood 118: 2077-2084.


SHERBORNE, A. L., K. HEMMINKI, R. KUMAR, C. R. BARTRAM, M. STANULLA et al., 2011 Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia. Haematologica 96: 1049-1054.


SILVA, A. C., M. FILIPE, H. STEINBEISSER and J. A. BELO, 2011 Characterization of Cer-1 cis-regulatory region during early Xenopus development. Dev Genes Evol 221: 29-41.


SUTTER, C., A. JEAN-CHARLES and H. MERLE, 2011 [Clinical and paraclinical course of melanocytoma of the optic disk. Contribution of spectral- and time-domain OCT in the study of 10 patients]. J Fr Ophtalmol 34: 615-623.


TAKEUCHI, S., M. MATSUSHITA, M. ZIMMERMANN, T. IKEZOE, N. KOMATSU et al., 2011 Clinical significance of aberrant DNA methylation in childhood acute lymphoblastic leukemia. Leuk Res.


TANGEMO, C., D. WEBER, S. THEISS, E. MENGEL and H. RUNZ, 2011 Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. J Lipid Res 52: 813-825.


THIEL, A., M. BEIER, D. INGENHAG, K. SERVAN, M. HEIN et al., 2011 Comprehensive array CGH of normal karyotype myelodysplastic syndromes reveals hidden recurrent and individual genomic copy number alterations with prognostic relevance. Leukemia 25: 387-399.


WANG, F., Z. HU, R. YANG, J. TANG, Y. LIU et al., 2011 A variant affecting miRNAs binding in the circadian gene Neuronal PAS domain protein 2 (NPAS2) is not associated with breast cancer risk. Breast Cancer Res Treat 127: 769-775.


YANG, R., M. DICK, F. MARME, A. SCHNEEWEISS, A. LANGHEINZ et al., 2011 Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk. Breast Cancer Res Treat 127: 549-554.


ZEIDLER, L., M. ZIMMERMANN, A. MOERICKE, B. MEISSNER, D. BARTELS et al., 2011 Low platelet counts after induction therapy for childhood acute lymphoblastic leukemia strongly associate with poor early response to treatment as measured by minimal residual disease and are prognostic for treatment outcome. Haematologica.