Kliniken & Institute ... Institute Institute of Human... Research Publikationen 2010

Publications 2010

Alkhalaf, A., P. Zurbig, et al. (2010). "Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy." PLoS One 5(10): e13421.


Andrade, A. C., J. Baron, et al. (2010). "Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndrome." Horm Res Paediatr 73(3): 161-165.


Behnecke, A., K. Hinderhofer, et al. (2010). "Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature." Am J Med Genet A.


Berkel, S., C. R. Marshall, et al. (2010). "Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation." Nat Genet 42(6): 489-491.


Broyl, A., D. Hose, et al. (2010). "Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients." Blood.


Catucci, I., R. Yang, et al. (2010). "Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases." Hum Mutat 31(1): E1052-1057.


Conter, V., C. R. Bartram, et al. (2010). "Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study." Blood 115(16): 3206-3214.


Deane, C. R., D. Goss, et al. (2010). "Extracranial internal carotid arterial disease in children with sickle cell anemia." Haematologica 95(8): 1287-1292.


Durand, C., F. Bangs, et al. (2010). "Enhancer elements upstream of the SHOX gene are active in the developing limb." Eur J Hum Genet 18(5): 527-532.


Endele, S., G. Rosenberger, et al. (2010). "Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes." Nat Genet 42(11): 1021-1026.


Endris, V., K. Hackmann, et al. (2010). "Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia." Am J Med Genet A 152A(11): 2908-2911.


Evers, C., P. Heidemann, et al. (2010). "Pseudoautosomal inheritance of Leri-Weill syndrome: what does it mean?" Clin Genet.


Fletcher, O., N. Johnson, et al. (2010). "Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls." Cancer Epidemiol Biomarkers Prev 19(9): 2143-2151.


Goecke, T. W., A. B. Ekici, et al. (2010). "Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy." Acta Obstet Gynecol Scand 89(1): 7-14.


Gore, F., J. Fawell, et al. (2010). "Too much or too little? A review of the conundrum of selenium." J Water Health 8(3): 405-416.


Hammer, C., P. A. Fasching, et al. (2010). "Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy." Pharmacogenomics 11(7): 943-950.


Heesch, S., I. Bartram, et al. (2011). "Expression of IGFBP7 in acute leukemia is regulated by DNA methylation." Cancer Sci 102(1): 253-259.


Heilig, C. E., H. Loffler, et al. (2010). "Chromosomal instability correlates with poor outcome in patients with myelodysplastic syndromes irrespectively of the cytogenetic risk group." J Cell Mol Med 14(4): 895-902.


Hemminki, K., B. Muller-Myhsok, et al. (2010). "Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients." Int J Cancer 126(12): 2858-2862.


Horn, D., J. Kapeller, et al. (2010). "Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits." Hum Mutat 31(11): E1851-1860.


Koster, I., M. S. Jungwirth, et al. (2010). "xGit2 and xRhoGAP 11A regulate convergent extension and tissue separation in Xenopus gastrulation." Dev Biol 344(1): 26-35.


Moog, U. (2010). "Invited comment." Acta Psychiatr Scand 122(2): 166.


Moog, U. (2010). "Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment." Acta Psychiatr Scand 122(2): 166.


Neben, K., A. Jauch, et al. (2010). "Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation." Haematologica 95(7): 1150-1157.


Niesler, B., J. Kapeller, et al. (2010). "5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex." Eur J Gastroenterol Hepatol 22(7): 856-861.


Prasad, R. B., F. J. Hosking, et al. (2010). "Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood." Blood 115(9): 1765-1767.


Puskaric, S., S. Schmitteckert, et al. (2010). "Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart." Hum Mol Genet 19(23): 4625-4633.


Quist, S. R., I. Franke, et al. (2010). "Periungual fibroma (Koenen tumors) as isolated sign of tuberous sclerosis complex with tuberous sclerosis complex 1 germline mutation." J Am Acad Dermatol 62(1): 159-161.


Rauschenberger, K., K. Scholer, et al. (2010). "A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival." EMBO Mol Med 2(2): 51-62.


Schulz, A., C. Fischer, et al. (2010). "Entropy-supported marker selection and Mantel statistics for haplotype sharing analysis." Genet Epidemiol 34(4): 354-363.


Sherborne, A. L., F. J. Hosking, et al. (2010). "Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk." Nat Genet 42(6): 492-494.


Stein, S., M. G. Ott, et al. (2010). "Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease." Nat Med 16(2): 198-204.


Taylor, M. A., R. N. Marshall, et al. (2010). "Dose-response effects of diclazuril against pathogenic species of ovine coccidia and the development of protective immunity." Vet Parasitol.


Tchatchou, S., A. Riedel, et al. (2010). "Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity." Hum Mutat 31(1): 60-66.


Vukicevic, V., A. Jauch, et al. (2010). "Genetic instability and diminished differentiation capacity in long-term cultured mouse neurosphere cells." Mech Ageing Dev 131(2): 124-132.


Walstab, J., C. Hammer, et al. (2010). "RIC-3 exclusively enhances the surface expression of human homomeric 5-hydroxytryptamine type 3A (5-HT3A) receptors despite direct interactions with 5-HT3A, -C, -D, and -E subunits." J Biol Chem 285(35): 26956-26965.


Walstab, J., G. Rappold, et al. (2010). "5-HT(3) receptors: Role in disease and target of drugs." Pharmacol Ther.


Wang, F., Z. Hu, et al. (2010). "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.


Weinhold, N., J. Moreaux, et al. (2010). "NPM1 is overexpressed in hyperdiploid multiple myeloma due to a gain of chromosome 5 but is not delocalized to the cytoplasm." Genes Chromosomes Cancer 49(4): 333-341.


Yang, R., M. Dick, et al. (2010). "Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk." Breast Cancer Res Treat.


Yang, R., B. Schlehe, et al. (2010). "A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk." Breast Cancer Res Treat 121(3): 693-702.